Case Descriptions

Case 1 (A 7645, 30 years, 15 July 47)*

Clinical History This 30-year-old patient was admitted to the hospital for the second time with convulsions,S days prior to the date of expiration (second admission). This patient turned blue when crying as a baby. The mother was told that the child had disease when the child was 6 years of age. In 1933, at the age of 16 years, the patient had severe grippe with marked cyanosis, swollen and painful joints. Diagnosis of was made. Following this the patient would turn blue on the slightest exertion. In May, 1947, she had a generalized convulsive seizure followed by several similar seizures. One observer reported that the twitching always occurred on the right side. She was admitted to the hospital on June 3, 1947. Diag• nosis of ventricular septal defect, pulmonary stenosis, dextroposition of the aorta, hypertrophy of the right , and convulsions due to cerebral thrombosis was established. A Blalock procedure (left subclavian to left ) was performed. On examination the patient was found to be having a convulsive seizure that started in the right hand and spread to the right and then the left leg, then tonic movements of the head and neck lasting 60 sec. Unconsciousness lasted 15 sec. Cyanosis of the fingers and toes was noted as was clubbing of same. Speech was slurred; fundi were normal. Right facial weakness was noted. There was abnormal rhythm and rate of the heart and a loud systolic murmur. (BP) was 140/90. (P) was 100; respiration (R) was 26. Absence of left radial pulse was noted. Neurological exam revealed active reflexes on both sides with a positive Babinski on the right. Treatment with infusions was begun. Diagnosis of cerebral thrombosis, probably of one of the middle cerebral branches, was made. Tempera• ture (T) became elevated to 101 0 F on the 2nd day only. The patient expired on the 5th hospital day. Lab Data (11 Ju147)t Blood: RBC Hgb WBC N. Seg Seg Ly E. M. Hct 5.8 19 11,800 2 72 15 4 53 CO. of 49.5 vol. percent

• The items in parentheses refer to the patient file identification num ber, age at death, and date of death. t RBC, red blood cell count; WBC, white blood cell count; Hgb, hemoglobin g%; N. Seg, non• segmented; Seg, segmented; Ly. lymphocytes; E, eosinophils; M, monocytes; Hct, hematocrit.

149 150 Case Descriptions

Autopsy Diagnosis Congenital heart disease with pulmonary stenosis; dextroposition of aorta; interventricular septal defect; hypertrophy of right ventricle; patent foramen ova Ie; patent ductus arteriosus; healed aortic and pulmonic valvular with stenosis; chronic abscess of brain (left frontoparietal area); multiple pulmonary and pleural scars.

Case 2 (A 7703, 3 years, 9 Sep 47)

Clinical History This 3-year-old white male child was cyanotic upon exertion from the age of 3 months. His gain in weight and development were slow; his activities voluntarily restricted. When he was admitted to the New Haven Hospital at the age of 2 V2 years, the diagnosis of tetralogy of Fallot was made and an end-to-side anastomosis was established between the right subclavian and pulmonary . Preoperatively, the maximum observed systemic arterial O2 saturation at rest was 38%, which fell with moderate activity of the child to only 27%. Postoperatively the level with moderate activity was 79%. The child was greatly improved after the operation but expired 4 months later during the difficult surgical removal of a large Wilms tumor of the left kidney

Autopsy Diagnosis Tetralogy of Fallot; surgical anastomosis of right subclavian artery to right pulmonary artery, old; abdominal incisions, recent, and absence of left kidney (removed for a Wilms tumor); hemoperitoneum.

Case3 (A7987, II months, 8 May 48) Clinical History This II-month-old white female child had been noted to be cyanotic upon exer• tion at 6 weeks of age and from the age of \0 weeks was at least slightly cyanotic at all times. The diagnosis of tetralogy of Fallot was made at the age of II weeks. At that time an arterial O 2 saturation determined when she was crying and exhausted was 23%. At the age of 7 months she developed the signs of a cerebral arterial thrombosis. Because of this unfavorable incident, a Blalock-Taussig operation was performed I month later, anastomosing the left subclavian and left pulmonary arteries. The patient's color remained pink for 24 hr postoperatively, but then the murmur of the surgical shunt disappeared and cyanosis recurred to the same degree as before. It was apparent that in spite of intravenous heparin therapy the anas• tomosis had become occluded. Three months later, at the age of II months, another operation was performed, this time anastomosing the right subclavian and the right pulmonary artery. After 24 hr of an encouraging postoperative course, she suddenly became dyspneic and cyanotic and expired a few minutes later. Case Descriptions 151

Autopsy Diagnosis Tetralogy of Fallot; old operative anastomosis of left subclavian artery with thrombosis of anastomosing vessels; recent operative anastomosis of right subcla• vian artery to pulmonary artery with fresh at site of anastomosis; focal atelectasis of lungs; old and recent encephalomalacia.

Case 4 (A8026, 7 years, 26 Jun 48)

Clinical History This 7-year-old white girl had been cyanotic upon exertion since infancy. Although her exercise tolerance was low, her general development was quite normal. When she was admitted to the hospital at the age of 7 years, the physical and fluoro• scopic findings indicated the presence of tetralogy of Fallot, as well as a right aortic arch. The right ventricular pressure measured by cardiac catheterization was 60 cm

H20. The systemic arterial O2 saturation while the patient breathed room air at rest was 63.5%. While she breathed pure O2 it rose to 77.5%. A Blalock-Taussig opera• tion was begun, but during the initial dissection around the left subclavian artery the patient suddenly expired with visible ventricular fibrillation.

Autopsy Diagnosis Tetralogy of Fallot; patent foramen ovale; right-sided aortic arch; recent inci• sion left anterior chest; clubbing of fingers and toes; mucosal hemorrhage of stomach.

Case 5 (A8031, I V2 years, 30 Jun 48)

Clinical History This 18-month-old white female infant was noted to have a systolic murmur at birth and to be cyanotic with exertion at the age of 4 months. The diagnosis of tetralogy of Fallot was made, but, since the child's general condition seemed satis• factory, operation was deferred until a more opportune age. Cyanosis became more marked during the following year, with occasional episodes of paroxysmal dyspnea.

At the age of II months, an arterial O2 saturation while the child was crying and totally exhausted was only 12.3%. There was some question as to whether venous blood might not have been accidentally withdrawn for the analysis, but it was esti•

mated that, even if this were true, the arterial O2 saturation could not have been over 35%. At the age of 18 months, a Blalock-Taussig operation was performed, ana• stomosing the left subclavian and left pulmonary artery. The postoperative course was uneventful for the first 12 hr, but the respiratory distress became evident and continued until death 12 hr later. Heparin had been administered by continuous intravenous drip during this 24-hr period, but the blood clotting levels were difficult to regulate and were rarely satisfactorily low. 152 Case Descriptions

Autopsy Diagnosis Tetralogy of Fallot; interauricular septal defect; thrombus in left subclavian and left pulmonary artery at site of anastomosis; interstitial emphysema of left lung.

Case 6 (A8119, 46 years. 24 Sep 48) Clinical History This 46-year-old white male was dead on arrival at Grace-New Haven Com• munity Hospital (GNHCH) on September 24, 1948. His first admission here dated back to 1938 when he was 36 years old. He was given a preemployment with a history of heart trouble since birth with no symptoms. There was a question of cyanosis after birth. He had had active TB from the ages of 7-11 years. While at Gaylord Farms the diagnosis of congenital heart disease was made. Physical examination on admission here in 1938 revealed a BP of 245/120. There was marked cardiomegaly. A loud, rough systolic murmur was heard over the entire chest and best in the apical region. There was definite pulsation of the inter• costal arteries bilaterally. The arm blood pressure on the left was 255/125, while the leg blood pressure was O. The dorsalis pedis and posterior tibial were absent. X rays revealed notching of the ribs and a diagnosis of coarctation of the aorta was made. In February, 1948, the patient was admitted after the onset of ankle edema and cyanosis and bloody stools over a 2-week period. Physical examination (PE) then showed moderate cyanosis of the hands and feet. Marked edema of the ankles and legs was present. No peripheral pulses were obtained in the lower extremities. The heart was enlarged with a Grade II systolic harsh murmur transmitted over the pre• cordium. Dullness was present at both lung bases. The liver edge was 2 cm below the costal margin. Electrocardiogram (EKG) showed left-axis shift with the suggestion of anterior wall infarction. X rays revealed rib notching with cardiomegaly. Gastrointestinal series suggested a duodenal ulcer. The patient was digitalized but his feet became progressively more gangrenous. Supracondylar amputation of the right leg and of the left toes was carried out. The patient was discharged as improved.

Autopsy Diagnosis Coarctation of aorta; generalized arteriosclerosis with particular involvement of coronary and cerebral arteries; incomplete occlusion of anterior descending branch of left coronary artery; infarct and scar of apex of heart; mural thrombosis in wall of left ventricle; hypertrophy and dilatation of left ventricle; absence of right leg and left toes; recanaIized thrombus in both iliac , fresh and organized infarcts in right middle and lower lobe; pleural adhesions, right; right hydrothorax.

Case 7 (A8204, 15 years. 7 Dec 48)

Clinical History This 15-year-old white female was admitted on November 11, 1948, with the chief complaint of "heart trouble" since birth. At 9 months of age the patient was Case Descriptions 153 seen in pediatric clinic and found to have an enlarged heart, precordial thrill, rough to-and-fro murmur, and slight clubbing of the fingers. She gained weight poorly dur• ing the 1st year and subsequently. At 9 years of age increasing fatigue and cyanosis was noted. During the previous 2 years the patient was unable to walk more than one block without tiring. For several months before admission she had done no walking. One month before admission she was treated in clinic with digitalis because of dyspnea, orthopnea, cough, and ankle edema.

PE on admission included a temperature of 100.4 0 , P of 1l2, R of 28, and BP of 110/55. The heart was enlarged to the left anterior axillary line. A loud, blowing sys• tolic murmur was heard over the precordium, loudest at the apex and along the left sternal border. There was a question of a diastolic murmur to the left of the sternum. The liver edge was at the costal margin and a spleen tip was felt. Marked clubbing of the fingers and toes was present. A phlebotomy was performed and cardiac catheterization was carried out. At the end of this procedure she became very cyanotic and expired 24 hr later.

Catheterization Studies 7 Dec 48 Right ventricular pressure, 50 mm Hg (mean)

Autopsy Diagnosis Congenital stenosis of pulmonic valve and main pulmonary arteries; patent interauricular septum; chronic ("rheumatic") verrucous endocarditis of all valves with stenosis of tricuspid; focal scars of myocardium; cardiac hypertrophy, involving especially the right ventricle and atrium; atelectasis of left lung; acute and chronic passive congestion of viscera with subarachnoid and intraventricular hemorrhage.

Case 8 (A8734, 10 months, 7 May 50)

Clinical History This infant was admitted to the New Haven Hospital on February 16, 1950, about 11 weeks before death, with the known diagnosis of congenital heart disease. This was the mother's seventh pregnancy. The six siblings were alive and well. The pregnancy was complicated only by an atypical viral pneumonia at the begin• ning of the second trimester. The delivery was at term, aided by mid-forceps. The child was noted to have a loud, blowing systolic murmur audible over the entire pre• cordium and on the day after delivery was cyanotic, lethargic, and easily exhausted. These cleared completely during the first few days, and the child was discharged with the mother on the 9th day of life; the discharge diagnosis was congenital heart disease. During the subsequent 6 1/2 months at home the child seemed perfectly well, although easily tired during the first few months and slightly slower in development than the other siblings had been. A checkup at 6 weeks of age by Dr. Whittimore revealed an enlarged right atrium and premature auricular contractions. One week before admission and 7 days after the onset of an upper respiratory infection (URI), the child experienced an episode of vomiting, cyanosis and marked cardiac irregularity lasting less than 24 hr. A similar episode was 6 days later. 154 Case Descriptions

PE on admission included a P of 168 and an R of 40. The child was fretful and cyanotic. The heart was enlarged to the left with a widely referred precordial systolic murmur. The cardiac rhythm was irregular as though there were many extrasystoles associated with dropped beats. The liver was enlarged. There was no evident club• bing of the fingers. Digitalis and penicillin therapy were instituted. During the next 2V2 months five bouts of fever ranging as high as 105.8° with corresponding white blood cell (W8C) count of 29,000 occurred. On March 18, 1950, oral thrush appeared during such a febrile episode. On May 5, the child became cyanotic during such an episode and expired the following day. On admission the EKG showed sinus , right axis deviation, and showers of premature extrasystoles with compensatory pauses. On some occasions the rate was regular and slow, and finally, during the last month, complete atrioven• tricular (A V) dissociation was present. Oximeter studies on March 4 revealed an

arterial O2 saturation of 89-90% which rose to 94% when breathing O2• Angiocar• diography on March 24 revealed a large right atrium, infundibular stenosis, a large tricuspid valve questionably displaced downward; no right-to-Ieft shunt was visualized. During the last 48 hr of life, the EKG were extremely bizarre with prolonged Q-T and P-R intervals, indicative of severe myocardial damage.

Autopsy Diagnosis Congenital heart disease; pulmonic and tricuspid endocarditis with shortening of chordae tendineae; infundibular and valvular pulmonic stenosis with poststenotic dilation of pulmonary arteries; dilation and hypertrophy of heart, especially of right atrium and ventricle; patent foramen ovale; absence of right superior vena cava with persistence of left superior vena cava entering dilated coronary sinus; scars of myocardium; congestion of viscera.

Case 9 (A8878, II months, 3 Oct 50) Clinical History This white female child was born on November 10, 1949, after a normal delivery, and weighed approximately 7 lb. Soon after birth, she was noted to be cyanotic and continued thus. In August, 1950, there was evidence of respiratory distress and high fever, and a diagnosis of "bronchitis" was made, for which she was treated in the hospital with oxygen and aureomycin. She seemed to be improved and was discharged. Nine days before her final admission, which occurred on September 19, 1950, she was afebrile and had no respiratory distress, but a physical examination by her private physician suggested that there was evidence of greater cardiac enlargement than observed previously. Three to four days before admission, she began to develop signs of respiratory distress, although there was no fever. She also was unable to eat solid food and vomited what she did eat. Upon physical examination she appeared cyanotic, breathing at a rate of 30, with obvious distress. Fine rales were heard throughout the chest, which was clear to Case Descriptions ISS percussion. The was 150, the rhythm was regular, and a loud systolic murmur was heard over the entire precordium, in both axillae, and posteriorly. No diastolic component was noted. The heart was percussed almost to the midaxillary line on the left. The liver was palpable three fingers' breadth (FB) below the costal margin and seemed somewhat tender. The tip of the spleen also could be palpated at the costal margin. In a roentgenogram of the chest there was evidence of cardiac enlargement, thought to be generalized, but with special involvement of the right side. The "waist" of the heart appeared small. The pulmonary vessels appeared engorged and seemed increased in caliber toward the periphery of the lung fields. There was definite evidence of an increase in size of the heart since May 25, 1950, the date of the last examination. Fluoroscopic examination confirmed these findings. The child was maintained on digitalis and oxygen. Diuresis was achieved with the use of mercuhydrin. The red blood cell count was found to be 6,000,000, the hemoglobin (Hb) was 12 g/ 100 ml, and the white count was 12,000. Signs of appeared, and death occurred on October 3, 1950, at the age of II months.

Autopsy Diagnosis Transposition of aorta and pulmonary artery; interventricular and interauricular septal defects; enlargement of bronchial arteries; congestion of viscera with focal necrosis of liver; throm bosis in veins of frontal lobe of brain with cerebral hemorrhage and necrosis.

Case 10 (A8961, 5 months, 21 Dec 50)

Clinical History This child was the product of normal delivery on July 6, 1950 and had a birth weight of 6 Ib 4 oz. She was noted to be cyanotic immediately after birth. A faint precordial murmur was heard at the age of 3 weeks. She was discharged from the hospital at the age of 6V2 weeks, able to remain outside of oxygen, although cyanotic. At 4 months of age, she developed an upper respiratory infection with cough, cyanosis, and increased respiratory distress. She was digitalized at this time because of evidence of congestive failure and transferred to the New Haven Hos• pital, where she was admitted on December 6, 1950. At this time, she was cyanotic even in oxygen. The veins of the scalp were prominent. Breathing was rapid and labored. A Grade II systolic murmur was heard all over the precordium. The rhythm was normal. The liver was 2 cm below the costal border. There was a sug• gestion of early clubbing. The red blood cells (RBe) were 7,000,000 and the hemo• globin was 14.7 g/100 ml. White blood cells were 29,900 with 80% polymorphonu• clear leukocytes. Roentgenographic examination demonstrated a marked increase in size of pulmonary vessels. There was a striking narrowing of the base of the heart in the posterior-anterior projection. A suggestion of elevation of the apex was also noted, and there was an anterior fullness compatible with right ventricular enlarge- 156 Case Descriptions ment. During various diagnostic studies the child manifested an inability to feed, and diarrhea developed. She died on the 15th hospital day.

Autopsy Diagnosis Transposition of the great vessels; patent foramen ovale; interventricular septal defect; patent ductus arteriosus.

Case 11 (A9118, 5 years, 18 May 51)

Clinical History The patient was a 5-year-old Negro girl who was admitted on May 12, 1951, for investigation and possible operation for congenital heart disease. She had been born after an uncomplicated 8-month pregnancy of a 39-year-old woman. At the age of 21 months she was first noted to be cyanotic and she became dyspneic after exertion, assuming the squatting position. She also had occassional episodes of severe cyanosis associated with loss of consciousness and convulsive movements. A was first noted at the age of 2 years and the patient had clubbing of the fin• gers. Polycythemia. right-axis deviation on EKG, and a band-like density in the right upper lobe on X ray were noted. PE revealed a BP of 85/55 with moderate cyanosis. The patient had a mongoloid appearance, moderate clubbing of the fingers and toes, cardiac enlarge• ment with a systolic murmur loudest at the pulmonic area, a large liver, residual clubbed foot deformity, and clear lung fields. X ray and fluoroscopy revealed minimal cardiac enlargement with a concave pulmonary conus area and a right-sided aorta. A pleural density was noted between the right middle and upper lobes. Venesections were performed to relieve the polycythemia. A Blalock operation was performed on May 17. 1951. During the procedure the heart rate became slow. After the operation. the patient became apneic, developed subcutaneous emphysema, and expired.

Autopsy Diagnosis Congenital heart disease with hypoplastic pulmonary artery, interventricular septal defect, dextroposition of the aorta, and right ventricular hypertrophy (tetralogy of Fallot); interauricular septal defect; anastomosis of left pulmonary artery and left subclavian artery with ligation of distal left subclavian; bilateral pneumothorax and partial collapse of lungs.

Case 12 (A9160, 9 months, 26 Jun 51)

Clinical History This male infant was noted to be cyanotic within a few hours after his birth on September 18. 1950, and he remained so to a greater or lesser degree until his death 9 months later. A loud, systolic murmur was heard over the entire precordium, best along the Case Descriptions IS7 left sternal border. Roentgenograms made in February, 1951, demonstrated pre• dominantly left ventricular hypertrophy. The pulmonary vascular bed was thought to be less prominent than usual. There was left-axis deviation in the EKG. The probable diagnosis was thought to be tricuspid atresia or single ventricle, probably the former. It was not necessary to maintain the infant in oxygen continuously, but during the last few months of life the cyanotic episodes became more frequent, lasted longer, and were sometimes accompanied by loss of consciousness. There was little decrease in cyanosis following administration of oxygen, but no data on oxygen saturation of the systemic arterial blood are available. On the final admission of June II, 1951, there was deep cyanosis. There was marked evidence of cardiac enlargement, with the cardiac dullness to the left anterior axillary line. A systolic thrill was palpable over the apex and there was a harsh, loud systolic murmur heard over the entire precordium, but maximally over the apex. This murmur was well transmitted to the axilla and back. There was marked clubbing of the fingers and toes. The hemoglobin was 12.9 g/IOO ml, and the RBC was 7,270,000. The child was digitalized Cyanotic episodes continued. Although there was no clinical evidence of congestive failure. the child died rather quickly on June 26,1951, at the age of 9 months.

Autopsy Diagnosis Tricuspid atresia; interauricular and interventricular septal defects; marked expansion of bronchial arterial circulation with numerous large anastomoses to pulmonary artery.

Case 13 (A9427, 10 months, 14 Feb 52)

Clinical History This white female child was born on April 8, 1951. She had three admissions to the New Haven Hospital. The first of these occurred between April 17 and May 3, 1951. She had been noted to be cyanotic shortly after birth and to have a loud pre• cordial heart murmur and a cleft palate. She remained cyanotic both in and out of oxygen. The murmur was of a brassy quality, systolic in time, and was leard loudest at the left sternal border and in the scapular region. Her heart rate was 180 and there was evidence of enlargement to the left. The lower border of the liver was I cm below the costal margin. The prominence of the vascular markings in the lung fields appeared to be somewhat in excess of the usual. The second admission was from June 30. 1951. to September 12, 1951. In the interim she had been reasonably well but developed a mild upper respiratory infec• tion and then appeared more cyanotic than usual. Consequently, she was brought at once to the emergency room Her heart again was found to be enlarged to the left. The heart rate was 190. A murmur similar to that which had been heard previously was again audible. The liver was 3 1," fingers' breadth below the costal margin, and the spleen, likewise, was palpated one finger breadth below the costal margin. At this time the hemoglobin was 1r: g! 100 m!. the red blood cell count was 5,200,000 158 Case Deseriptions

and the white blood cell count was 18,200. The urine albumin was 2+. Fluoroscopy and roentgenograms of the chest demonstrated a narrow cardiac border in the left anterior oblique position. In the right anterior oblique position the base appeared to be wide. The anterior chamber (right ventricle) seemed greatly enlarged. There was now a marked increase in the vascular markings. Upon fluoroscopy, the vessels appeared strikingly pulsatile. On July 28, 1951, a thoracotomy was performed and a defect created between the right atrium and the right pulmonary ; an end-to-end anastomosis of the innominate artery to the right pulmonary artery also was performed at this operation. Her third admission was between December 10, 1951, and February 14, 1952. In the preceding week, she had become more fretful and refused to eat. A cough developed and dyspnea and sneezing increased. Upon admission, the hemoglobin was found to be 17 g/Ioo ml, the red blood cell count was 6,000,000, and the white blood cell count was 11,500. She was treated with digitoxin and terramycin. An elec• trocardiogram on January 2, 1952, demonstrated and right-axis deviation. She expired suddenly on February 14, 1952, at the age of 10 months.

Autopsy Diagnosis Transposition of great vessels; anastomosis of right subclavian and right pulmonary arteries; hypertrophy and dilation of heart.

Case 14 (A9448, 3 months, 8 Mar 52)

Clinical History This male child was first admitted on December 22, 1951, on the day after birth. Because of persistent cyanosis he was placed in oxygen. At this time, the heart, upon physical examination and fluoroscopy, did not appear to be enlarged. There was a moderate systolic murmur along the sternum, best heard in the third and fourth interspaces. Roentgenographic and fluoroscopic examinations revealed the pulmonary markings to be markedly decreased. There was an absence of a "pulmonary arterial segment." In the posterior-anterior projection, the cardiac apex appeared to be high. The edge of the liver was two fingers' breadth below the costal margin. The red blood cells were 6,400,000 and the hemoglobin was in excess of 18g/100ml. He was followed in the pediatric clinic and was readmitted to the hospital on Feb• ruary II, 1952, because of evidence of a marked increase in heart size and because his hemoglobin had now risen to 22.6 g/ 100 mt. At the time of the second admission, the child appeared to be cyanotic. There was no change in the murmur. The size of the heart by roentgenographic examina• tion proved to be greatly increased over the preceding examination. An angiocardio• gram demonstrated a single vessel interpreted as aorta to rise from the base of the heart. Peripheral pulmonary arteries were visualized in the fourth film, but there was no evidence of the origin of a major pulmonary artery from the heart. This was interpreted as representing either truncus arteriosus or pulmonic atresia. A retro• grade aortogram was made by injecting contrast medium into the branchial artery. Case Descriptions 159

A large vessel was seen to descend from the region of the neck and apparently into the right lung field. This was thought to be a large bronchial artery. Death occurred rather suddenly on March 8, 1952, at the age of II weeks.

Autopsy Diagnosis Mitral and pulmonic atresia; interauricular and interventricular septal defects; dextroposition of aorta; patent ductus arteriosus; hypoplasia of left ventricle; hypertrophy of crista supraventricularis with formation of accessory right ven• tricular chamber; right cardiac hypertrophy; extensive arterial collateral circulation; chronic passive congestion of viscera; origin of right subclavian artery from descend• ing thoracic aorta with posterior transit; organizing thrombus in left brachial artery.

Case 15 (A9514, 18 years, 4 May 52)

Clinical History This patient was born after a normal delivery on February 16, 1934. It is of interest that three of his siblings were mentally deficient microcephalics. This child seemed well at first, but at the age of 9 months he suffered from a "double pneu• monia." Later, it was found that he tired easily and that he became quickly short of breath upon mild exertion. He was first seen at the New Haven Hospital on May 10, 1949, at the age of 15 years. At this time, his heart did not seem to be enlarged to percussion. The blood pressure was 105/65. There was a Grade II-III systolic murmur audible over the entire precordium. In a roentgenogram of the chest made on May II, 1949, the heart appeared to have a relatively normal contour and not to be enlarged. Pulmonary vascular markings were interpreted as normal or slighly decreased. The electrocardiogram demonstrated right ventricular preponderance. At this time, the red blood cells were 6,800,000 and the hemoglobin was 24 g/100 ml. The hematocrit (Hct) was 72%. There seemed to be a slight degree of clubbing of the fingers. Upon cardiac catheterization, it was possible to enter only the right atrium. The arterial oxygen saturation was 77.5%. On May 21, 1949. a Blalock-Taussig operation was performed, with anastomosis of a rather smaJl left subclavian artery to a large left pulmonary artery. The pressure within the pulmonary artery at operation was 240 mm of saline. Postoperatively. the arterial oxygen saturation rose to 86.5%. On May 27, 1949, while being observed by a physician. he suddenly developed a right hemiplegia. This graduaJly cleared. leaving relatively little residual in several months' time. The second admission occurred on March 22. 1952, because of headache and fever which had begun 2 weeks previously. A spinal puncture at the New Britain Hospital showed the fluid to be at increased pressure. His RBC fell from 7,200,000 on admission to 4,000,000 on the day before death. The spinal fluid white count was 6000, the sugar was 22 g/100 ml. and the protein was 160 g/ 100 ml. When admitted, he was treated with a series of antibiotics. An exploratory burr-hole was performed on May 3, but no abscess was discovered. He died on May 4, 1952, at the age of 18 years. 160 Case Descriptions

Catheterization Studies 21 May 49 Pulmonary artery pressure, 240 mm saline (mean)

Autopsy Diagnosis Tetralogy of Fallot; overriding aorta; interventricular septal defect; stenosis of pulmonary artery; rudimentary infundibular ventricle; clubbing of fingers; cyanosis of nailbeds; scar of incision of left third intercostal space; anastomosis of left subcla• vian and pulmonary arteries; recent left temporal incision approximated with black silk sutures; abscess of left parietal lobe of brain.

Case 16 (A9588, 2 months, 19 Jul 52)

Clinical History This male child was born at term on May 4, 1952. He was one of twins, the other (a female) apparently being well. At birth the child had a gray cyanosis, which became deeper when he died. He was admitted to the New Haven Hospital on May 19, 1952. At this time he was obviously cyanotic and apparently suffering from air hunger. Large tortuous vessels were seen in the retinae. The heart had a rate of 128 and was slightly enlarged to percussion. A coarse, loud systolic murmur was heard over the entire thorax and was greatest at the left sternal border in the fourth interspace. There was also an apical systolic thrill. The lower border of the liver was 4 cm below the costal margin. The hemoglobin was 20 g/100 ml and the white blood count was 13,800 with 66% polymorphonuclear leukocytes. Roentgenographic and fluoroscopic examination demonstrated generalized cardiac enlargement with an uptilting of the apex. The base of the heart did not seem to be narrow, and the pulmonary conus appeared to be large. There was marked pulmonary vascular engorgement. The elec• trocardiogram examination demonstrated the presence of right axis deviation. The child was treated with oxygen, digitalis, and a low salt formula. The respirations became, nevertheless, gradually more labored. The child refused to suck and lost weight. He died suddenly on July 19, 1952, at the age of 10 weeks. He weighed only 6 Ib 16 oz at death.

Autopsy Diagnosis Congenital transposition of aorta and pulmonary artery; inter auricular septal defect; patent ductus arteriosus; cyanosis; congestion of lungs; congestion of viscera.

Case 17 (A9709, 2 months, 28 Oct 52)

Clinical History This baby was admitted at the age of 1 week on September 7, 1952, for the first time. He entered with a diagnosis of dextrocardia and atelectasis of the right lung since birth. PE on admission included a pulse of 150. There was a soft posterior palate, a prominent left chest and the were heard to the right and with absence of pulmonary sounds on the right side. Case Descriptions 161

Two days after admission, edema of the eyelids and feet was noted. A bronchogram showed absence of the right lung. Cyanosis persisted. One day after the start of digitalis therapy the child expired.

Autopsy Diagnosis Hypoplasia and levoposition of right lung; dextrocardia with hypertrophy of right ventricle and hypoplasia of left ventricle; interauricular septal defect; coarcta• tion of aorta proximal to left subclavian artery; patent ductus arteriosus.

Case 18 (A9739, 5 months. 16 Nov 52)

Clinical History This was the first G N HCH admission of this 5-month-old, white male infant who was noted to have poor weight gain since birth. X rays at another hospital revealed cardiomegaly so he was sent here for further evaluation. PE revealed a P of 190 and an R of 90 and was afebrile. A soft systolic murmur was present and the heart was questionably enlarged. No cyanosis was present. On the day of admission. November 12. 1952, no pulsations or blood pressure were obtained in the lower extremities although the BP was 150/90-100 in the upper ex• tremities. Coarctation of the aorta was the clinical question. On November 15, 1952, the child became febrile and rales were heard in the chest. The child expired late that evening despite digitalis and O 2 therap\

Autopsy Diagnosis Coarctation of aorta; subendocardial fibroelastosis; cardiac hypertrophy and dilatation; passive congestion of viscera.

Case 19 (A9993, 3 months. 30 May 53) Clinical History This 3-month-old male child was born on March 5, 1953, with an uncompli• cated delivery. Immediately after birth his color appeared good, but a Grade II sys• tolic murmur was heard along the left sternal border, although it was not found to be transmitted at this time. By the next day, however, the impulse was found maximal to the right of the sternum and the murmur was also loudest there. It was high pitched and now referred to the right axilla and back. On fluoroscopy, the heart did not seem to be increased in size but had a globular shape and appeared to be chiefly on the right side. At this time the RBC were 6,000,000 and the Hb was in excess of 18 g/100 ml. The child was discharged on March 9,1953. The second admission was between April 14 and 18, 1953, because of increased cyanosis. The heart rate was now 140 and the respirations were 60. The heart was clearly on the right side. The systolic murmur was now of Grade III and maximal in the third and fourth right intracostal spaces (RICS). No diastolic murmur was heard. The liver and spleen were both thought to be slightly enlarged. After several

days, he appeared to be doing well outside of O 2 and was discharged. The third admission came on May 5. 1953. The child remained in the hospital 162 Case Descriptions for slightly more than 3 weeks. The present admission was precipitated by the fact that he had suddenly turned blue and stopped breathing for a time. He then became unconscious and was admitted. At this time P was 180, R was 48, and Twas 99.4°. X rays on April 29 confirmed the presence of dextrocardia, and the pulmonary vascular markings were considered diminished. Angiography was performed on May 28. The hepatic veins appeared to enter a large atrium via several channels. The aorta and pulmonary artery filled simultaneously, and the former arose anteriorly of the latter. The size of each vessel was normal. A globular density 18 mm in diameter was seen to fill within 2 sec on the left side above the position of the left atrium. The appearance of this density antedated the filling of the left jugular vein. It was considered to be in close association with the pulmonary veins. Actually this globular density was found to represent a common receptacle for the venous drainage of both lungs. This emptied into a left superior vena cava (LSVC) which drained into the left-sided atrium. EKG were all compatible with dextrocardia. The child expired suddenly on May 29, 1953.

Autopsy Diagnosis Dextrocardia; cor biloculare; double inferior and superior vena cava; pulmonary venous trunk emptying into left superior vena cava; focal pneumonitis.

Case 20 (A 10469, 4 months, 9 Mar 54)

Clinical History This child, a female, was noted to be cyanotic immediately after birth on November I, 1953. No murmurs were heard and she was discharged from the hos• pital. She apparently developed satisfactorily until 2 months of age, when there were repeated episodes of cyanosis and dyspnea. When studied in a hospital at this time, it was noted that the upper half of her body was more cyanotic than the lower half. There was a loud, blowing systolic murmur at the left sternal border, most intense in the pulmonic area. The liver edge at this time was 3 cm below the costal margin. It was thought that she had transposition of the great vessels, a patent ductus arte• riosus, and perhaps coarctation of the aorta, together with septal defects. The patient was digitalized at this time. She was readmitted on March 9, 1954, for especially severe episodes of dyspnea and cyanosis of 4-day duration. At this time, there was marked tachycardia. The other findings were as before. The second pulmonic sound was thought to be unusually prominent. The femoral pulses were also prominent and there was dif• ferential cyanosis, as noted previously. At this time, the RBC was 5,000,000, Hb was 13.2 g/IOO ml, Hct was 48, and WBC was 10,500 with a normal differential count. In an electrocardiogram there was normal sinus rhythm, right axis deviation, evidence of digitalis effect, and sug• gestions of both right and left ventricular hypertrophy. Roentgenograms of the thorax demonstrated a "high heart" with pulmonary markings that were thought to be increased by some, a narrow waist in the anteroposterior view, and, upon fluo• roscopy, a wide base in the left oblique anterior projection. Case Descriptions 163

The patient remained cyanotic in oxygen. On March 9, 1954, she was brought to the operating room, the plan being to create an interatrial septal defect. During the procedure a portion of the superior vena cava was inadvertently injured, with severe hemorrhage. Despite control of the hemorrhage, the infant's heart ceased to function.

Autopsy Diagnosis Complete transposition of aorta and pulmonary artery; patent ductus arteriosus distal to coarctation of aorta; patent interventricular septum and foramen ovale; artificial defect between superior vena cava and right superior vena cava; right hemothorax, hypertrophy of right ventricle; congestion of viscera.

Case 21 (AI0640, 5 months, 9 Jul 54) Clinical History This child was apparently well after birth on January 15, 1954, except for occa• sional cyanotic spells when crying, until 4 days prior to her admission on June 24, 1954. At this time, there was severe cyanosis for which she was at once admitted to a hospital, placed in oxygen, and treated with penicillin and a sulfonamide on the assumption that she might have pneumonia. When admitted to the New Haven Hos• pital, the child appeared markedly cyanotic. Respirations and pulse were rapid. A Grade I murmur was heard in the right upper chest. Although the murmur was not transmitted, according to one observer it was of continuous type. This was thought to suggest persistent patent ductus, or to be evidence of enlarged collateral bronchial vessels. The red blood count was 5,170,000 and the hemoglobin was 18.2 g/100 ml. Roentgenographic examination and fluoroscopy showed that the right lung appeared more radiolucent than the left. Vascular markings were less prominent than usual. There was a right-sided cardiac enlargement. An angiocardiogram performed on July 2, 1954, showed very rapid filling of a right-sided aorta. The blood supply to the pulmonary arteries appeared to be markedly diminished. The dye appeared simultaneously in the pulmonary vessels with the appearance in the aorta, and increased considerably later. Reexamination of the angiograms after the necropsy showed a vessel that appeared to connect one of the lower lobe pulmonary arteries with the descending portion of the thoracic aorta. This corresponds to the large connecting vessel between the aorta and the medial basal segmental branch of the pulmonary artery, as demonstrated in the cast. On July 8, 1954, the child was brought to the operating room, and, upon the presumption that there was pulmonic stenosis, an attempt at valvulotomy was made with a Brock valvulotome. The child died later on that afternoon.

Autopsy Diagnosis Congenital heart disease; atresia of right pulmonary conus; agenesis of left pulmonary artery; interatrial septal defect; interventricular septal defect; right ven• tricular hypertrophy; anomalous vessel from left subclavian artery to hilum of left 164 Case Descriptions lung; absent ductus arteriosus; recent surgical wound, third intercostal space; recent surgical wound, right ventricle.

Case 22 (A 10898, I day, 24 Dec 54)

Clinical History This child was born on December 22, 1954, after a normal labor and delivery. He was noted, immediately after delivery, to have a gray cyanotic appearance. Upon physical examination the lungs were found clear to percussion and . A Grade III, harsh, blowing systolic murmur, without diastolic component, was heard in the precordial region. loudest in the third intercostal space at the left sternal border. A faint systolic thrill was palpable here. The rhythm was of sinus type. The second pulmonic sound was thought to be diminished. The lower border of the liver was 1-2 cm below the costal margin. The child remained cyanotic even in oxygen. The roentgenogram of the chest demonstrated a transversely lying heart which appeared to be enlarged, especially to the right of the sternum. The base appeared to be narrow. The right atrium and right ventricle were considered to be large. The child was digitalized. An electrocardio• gram seemed normal for the age of the child. On the 2nd day, the cardiac rate fell to approximately 60. and the child died at the age of 28 hr. It was thought that the child had cyanotic heart disease, with diminished pulmonary arterial flow. The exact type was not established, but among the possi• bilities considered were ( I ) transposition of the great vessels, with pulmonic stenosis, (2) tetralogy of Fallot. (3) single ventricle with pulmonic stenosis, and (4) truncus arteriosus, with decreased blood flow. At necropsy. tetralogy of Fallot was found to be present with the aorta over• riding a high interventricular septal defect. There was atresia of the pulmonary valve, with extreme hypoplasia of the pulmonary artery. The foramen ovale and ductus arteriosus were patent. There was right ventricular hypertrophy. Focal hemorrhages were found in the kidneys and in the meninges of the cerebellum.

Autopsy Diagnosis Tetralogy of Fallot with overriding aorta; atresia of pulmonary valve and extreme hypoplasia of pulmonary artery; right ventricular hypertrophy; patent foramen ovale; patent ductus arteriosus; focal hemorrhages of kidney and cerebellar meninges

Case 23 (A10959, 5 years. 24 Jan 55)

Clinical History This was the fifth G NHCH admission of this 5-year-old white female with a chief complaint of cyanotic heart disease. The present illness began with the first admission in 1950. The patient was born on November 18, 1949, the first-born of twins, following a normal pregnancy and delivery. At a 6-week checkup the child was found to have a murmur. and, at 3 months, bouts of cyanosis were noted. Case Descriptions 165

Because of the cyanosis and a persistent cough, the child was first admitted in June, 1950, from St. Vincent's Hospital where she had been for 3 days and where she had been digitalized because it was felt she was in congestive failure. On PE of the heart, there was a palpable thrill over the entire precordium. The heart was not enlarged to percussion. A very loud systolic murmur was heard over the entire precordium, best along the left sternal border. Fluoroscopy on that admission showed a heart with a rather straight left border but no enlargement of the pulmonary conus. The X-ray diagnosis was right ventricular cardiac enlargement and minimal enlargement of the pulmonary vessels bilaterally. Fluoroscopy in 1950 indicated both right and left ventricular hypertrophy and vascular markings which were probably less than normal for the age of the child. She was again admitted in January, 1952, for catheterization studies and possible surgery. At that time the point of maximum impulse (PMI) was in the anterior axillary line (AAL); the thrill and murmur were still present. Marked nail bed cyanosis and clubbing were present. The child was catheterized and the right auricle was entered readily. Despite repeated attempts to enter the right ventricle, this was achieved only once where a pressure of 25/7 mm Hg was obtained. No blood sample could be drawn. The superior vena cava (SVC) saturation was 57.1 %, right atrium (RA) was 62%, and femoral artery (FA) was 73.3%. The diagnosis by catheteriza• tion was tricuspid stenosis with rudimentary right ventricle. Fluoroscopy showed a rounded apex, decreased peripheral lung markings, no pulmonary artery concavity, left auricular hypertrophy. and a borderline cardiothoracic ratio. The child was transferred to surgery on January 15, 1952, where she underwent a Blalock procedure with an end-to-end anastomosis of the right subclavian to the right main pulmonary artery. Postoperatively an exceedingly faint diastolic murmur was heard for a few days in the right subscapular region posteriorly. The postoperative period was marked by some difficulty in electrolyte regulation and one episode of unrespon• siveness and areflexia when a cerebral thrombosis was feared. The child was admitted for the third time in October, 1952, for pharyngitis. In November, 1954, she was admitted for angiography which demonstrated an enlarged right atrium and an atrial septal defect (ASD) with a large left atrium. The left ventricle was enlarged but the size of the right ventricle could not be determined. The anastomosis did not fill. The findings were thought to be in favor of a tricuspid atresia with a large interatrial defect and either a single ventricle or a large high ven• tricular septal defect. The child was admitted for the last time on January 15, 1955. PE showed a BP of 86/50. Cyanosis was marked. PMI was in the sixth interspace at the AAL. A thrill was palpable at the apex. There was a Grade IV harsh, rasping, blowing sys• tolic murmur heard best along the left sternal border, but transmitted to the apex, the axilla, and faintly to the back. Clubbing of the fingers and toes was present. X ray was read as absent right ventricle. An EKG was read as definitely abnormal with suggestive digitalis effect and left ventricular hypertrophy. January 18, 1955, she underwent a modified Pott's procedure with a side-to-side anastomosis of the aorta and the branch 01 the pulmonary artery leading to left lower lobe. Postoperatively coarse rhonchi developed in the left chest. Cyanosis and respiratory 166 Case Descriptions difficulties increased. A pneumothorax developed on the right side. On the 7th postoperative day the patient expired.

Catheterization Studies Jan 52 Right ventricular pressure 25/7 mm Hg.

Autopsy Diagnosis Congenital malformation of heart with tricuspid atresia; interatrial septal defect; rudimentary right ventricle; interventricular septal defect with calcific ver• rucae about orifice; moderate enlargement of right atrium; marked enlargement of left atrium; marked dilatation and hypertrophy of left ventricle; clubbing of fingers and toes; right thoracotomy scar; right upper lobe pleural adhesions; thrombosed anastomosis of right subclavian artery to right pulmonary artery; extensive bronchial arterial collateral circulation to right lung; recent left thoracotomy incision; side-to• side anastomosis of descending aorta with pulmonary arterial to left lower lobe; indu• ration of right lung; congestion of left lung; tracheotomy wound.

Case 24 (A 10978, 47 years, 7 Feb 55) Clinical History This 47-year-old white woman was known to be cyanotic since birth. At the age of 12, she suffered from a febrile illness that lasted several months, associated with arthritis of the left ankle. Despite the cyanosis, the only symptoms were easy fatigability and "thumping" of the heart. These symptoms became somewhat more prominent before her admission on January 9, 1955, for diagnostic study. At this time her blood pressure was 120/85. The pulse and respirations were not elevated. The heart had an irregular rhythm with premature contractions. A thrill was felt along the left sternal border. The second pulmonic sound was louder than the second aortic, and there was a Grade IV systolic murmur at the left sternal border, heard best in the second to third intercostal spaces. Roentgenographic studies revealed evidence of right cardiac hypertrophy and of a marked dilatation of the proximal portion of the pulmonary artery, while the more peripheral lung fields appeared relatively avascular. An angiogram performed on January II, 1955, with 33 ml of 70% contrast medium demonstrated a dome-shaped cupping at the pulmonary valve, suggesting stenosis with poststenotic dilatation of the pulmonary artery. The medium was retained in the right heart longer than usual. A catheter study was performed on January 10, 1955. At this time the oxygen satu• ration in the pulmonary artery was 57.6%, and the pressure in this region varied between 13/7 and 15/8 mm Hg. In the outflow tract of the right ventricle, the oxygen saturation was 51.6% and the pressure was 116/6. In the right atrium, the oxygen saturation was 53.6% and the pressure was 17/2. The peripheral venous pressure was 190 mm of saline. The circulation time determined by decholin (arm• to-tongue) was 20-23 sec on two successive determinations. Her RBC was 5,720,000 and the Hb was 16.3 g/100 ml. On February I, 1955, a pulmonary valvulotomy was performed by the transarterial route. At this time, the pulmonary artery as seen in situ beyond the Case Descriptions 167 stenotic valve was markedly dilated and extremely thin-walled. After the completion of the operation, it was easily possible to insert two fingers through the valve open• ing that had been enlarged by a transverse incision extending the original opening of 5 mm to approximately three times this size. Postoperatively, the patient did very well until the 6th day, when she developed flutter fibrillation that was not possible to control with quinidine and digitalis and she expired.

Catheterization Studies 10 Jan 55 Pulmonary artery pressure, 13/7-15/8 mm Hg Right ventricular pressure (outflow tract), 116/6 mm Hg , 17/2 mm Hg

Autopsy Diagnosis Congenital pulmonic stenosis; recent well-healed 3 V2-cm incision of pulmonary artery; recent incision of stenosed pulmonary valve; right ventricular hypertrophy; patent foramen ovale.

Case 25 (AI 1009, 2 V2 months, 2 Mar 55)

Clinical History This 2 V2-month-old child was admitted to this hospital for the second time on February 23, 1955, with a diagnosis of rectal bleeding. At birth on December 26, 1954, the child was noted to be cyanotic with a systolic murmur. He was weaned from oxygen and sent home. He had done fairly well until the night of admission. PE revealed a moderately cyanotic infant. P was 144-160. The heart sounds were of good quality with no thrill present. A harsh Grade II systolic murmur was present at the left sternal border. Pulmonic sounds were greater than the aortic sounds. No organs were palpable in the abdomen. While in the hospital he passed two more tarry stools. The rectal bleeding subsided by the 4th hospital day. On March I, 1955, the patient was found apneic and expired.

Autopsy Diagnosis Congenital heart disease; tricuspid atresia; hypoplasia of right ventricle; patent foramen ova Ie; peptic ulcer, first portion of duodenum.

Case 26 (AI 1066, 5 months, II Apr 55) Clinical History This 5-month-old child had been born 2 weeks late, weighing only 5 Ib 2 oz, and had three admissions to St. Vincent's Hospital in Bridgeport for dehydration, acidosis and upper respiratory infection. She had repeated bouts of cyanosis, not associated with feeding, and there had always been a feeding problem. At the time of admission to GNHCH on April 7, 1955, she weighed only 61b 7 oz. Because of a loud blowing, systolic precordial murmur, congenital heart disease was diagnosed. It was also felt that a congenital central nervous system (CNS) 168 Case Descriptions defect was present. Lab workup in Bridgeport included an EKG which showed right• axis deviation and a chest X ray which showed an enlargement of the heart with increased pulmonary markings and right ventricular enlargement and an unsuccess• ful angiocardiogram. On PE the heart had a harsh, loud Grade IV systolic murmur heard over the chest and precordium but loudest over the second interspace parasternally on the left. There also was an associated thrill between the second and third intercostal space on the left. No diastolic component was heard. P 2 was present. The rhythm was regular and the heart was thought to be enlarged. The liver was palpable at the costal margin. The hips could not be externally rotated beyond 45°. An EKG showed left-axis deviation and right ventricular hypertrophy. Fluo• roscopy showed large active right auricle and right ventricle with increased pulmonary vascular markings. The size of the heart was about 50% of the diameter of the thorax. The impression then was probably ostium primum or A V communis. No failure was thought to be present. The infant survived 2 more days with difficulty in feeding, difficulty with respiration, and cyanosis despite being kept in oxygen. On the morning of the 3rd hospital day she quietly expired.

Autopsy Diagnosis Interventricular septal defect; patent foramen ovale with deficient membranes; overriding of aorta; myxomatous thickening of pulmonary valve leaflets; pulmonic stenosis; sclerosis of pulmonary artery; hypertrophy of right ventricle; congestion of viscera; congestion and edema of lungs.

Case 27 (A 11490, 9 months, 6 Jan 56)

Clinical History This white female child was first seen at the New Haven Hospital between October 3 and 7, 1955, when she was 6 months old. She was admitted because of failure to gain weight, a chronic cough, and the diagnosis of questionable congenital heart disease. The child was born by Caesarean section and weighed 8 lb 15 oz at birth. Her first 6 months of life were characterized by a slow weight gain, repeated upper respiratory infections, and, during the last week, cyanosis when crying. She was admitted at first to the Middlesex Hospital where bronchial breath sounds were heard in the right upper lobe, a gallop rhythm was detected, and hepatomegaly was observed. There was roentgenographic evidence of cardiac enlargement. She was sent to the New Haven Hospital for further study. At the time of admission, physical examination showed slight but definite cyanosis when the patient cried. The heart was enlarged to the left anterior axillary line, with the point of maximal impulse at the nipple, a rate of 160, and soft sounds of good quality, without murmur. The second pulmonic was louder than the second aortic sound. The edge of the liver was 2 cm below the right costal margin. Upon fluoroscopy, the heart had a normal transverse diameter. The vascular markings were thought to be poor in the left lung field but increased in the right. In the upper left lung field there was a small circumscribed density which did not pulsate, nor Case Descriptions 169 change with respirations. The barium swallow revealed what was thought to be left atrial enlargement and prominence of the right ventricle in the left anterior oblique (LAO) position. In this position, the mass in the left upper lung field increased in apparent density. An EKG revealed a right-axis deviation, right ventricular preponderance and incomplete right bundle branch block. At this time, the RBC count was found to be 5,630,000, with a Hct of 48, and a WBC count of 16,000. At this time, the diagnosis was thought to be "congenital heart disease with questionable anomalous pulmonary venous return. A bronchogenic cyst of the peri• cardial sac must be ruled out." The patient was seen in the Cardiac Clinic on November 7, 1955. At this time she seemed to be in no distress. There was no further finding upon physical examina• tion and fluoroscopy of the heart. The patient's final admission occurred on January 6, 1956, at which time the child was 8 V2 months old. At this time the patient was dyspneic and cyanotic and had a heart rate of approximately 200. The liver was now 4 FB below the costal margin. She was immediately given 1.25 mg of morphine sulfate intramuscularly and 0.1 mg of cedilanid. An EKG was obtained, during which the patient suddenly became apneic. The heart rate gradually slowed and evolved into heart block, expanding from 2: 1 to 6: 1. and ending in ventricular standstill. Intracardiac caf• feine resulted in temporary restoration of ventricular contraction. Artificial respira• tions were continued for 45 min, but no spontaneous respirations occurred. The final clinical diagnosis was" Anomaly of venous return."

Autopsy Diagnosis Congenital cardiovascular anomalies consisting of drainage of pulmonary veins into persistent "left superior vena cava" draining into right superior vena cava; patent foramen ovale; hypertrophy and dilatation of right ventricle; dilatation of right atrium; bilateral pleural effusion; ascites; congestion of viscera; hepatomegaly.

Case 28 (AI1627, I V2 years, 21 Mar 56)

Clinical History This 20-month-old white male had been cyanotic since birth. The patient was seen in the Cardiac Clinic at this hospital at about 1 month of age at which time his pulse was 140-180, with a BP of 90/60 in the upper extremities and 150/60 in the legs. The heart appeared to be normal in size and sounds were of good quality with some suggestion of a tic-tac nature. No thrills and no third heart sounds were described. There was a soft. high-pitched Grade I systolic murmur heard best along the left sternal border at the third or fourth intercostal space. The liver edge was at the costal margin. Hb then was 22 g/loo ml. EKG revealed right-axis deviation, vertical position, and the series of pattern in the precordial lead suggested a single ventricle. Fluoroscopy revealed a left aortic arch and decreased vascular markings. The heart seemed to be small in size and there were no unusual palpatations. The patient was next seen in the Cardiac Clinic at 4 months of age and was gaining weight well. At this time there was moderate clubbing of the fingers and toes. No murmur was present. A pure pulmonic sound was heard in this and in 170 Case Descriptions subsequent visits. On fluoroscopy on September 14, 1955, a small, narrow vertical heart was present. The pulmonary vascular markings were markedly decreased. At the upper left cardiac border a long pulsatile convexity was noted. The barium column was markedly indented on the left side and displaced to the right. No pulmonary window was seen. On February 14, 1956, fluoroscopy revealed a density in the azygos lobe on the right. In addition, EKG revealed a regular sinus tachycardia with right-axis devia• tion and precordial lead suggestive of single ventricle. The findings of peaked P waves and small contour brought up the possibility of tricuspid stenosis. The patient was admitted to the hospital for the last time on March 14, 1956. Three days prior to admission he had a phlebotomy at which time 45 ml were with• drawn. On the day of admission the patient had a sudden attack of severe cyanosis and when seen in the emergency room (ER) he was unresponsive with an R of 20. PE on the floor revealed a P of 148 and R of 50. The PMI was 10 cm to the left of the midsternal line. There was a rapid, regular sinus rhythm with a strong thrust over the left inferior parasternal area. No murmurs were heard. The liver was 0.5 cm below the costal margin. Marked clubbing of the extremities and cyanosis was present. His Hct was 74%. Phlebotomies were carried out to bring his Hct down to 65%. After the second procedure the patient experienced and later became apneic and expired.

Autopsy Diagnosis Congenital heart anomaly; pulmonary atresia; patent ductus arteriosus; markedly dilated bronchial artery collateral vessels at hila of lungs; dilated inter• costal arteries; cyanosis and clubbing of extremities; focal polymorphonuclear leukocytic infiltrate in heart.

Case 29 (AI1633, 4 months, 22 Mar 56) Clinical History The patient was admitted on February 29, 1956, for phlebotomies and review of cardiac status. The child was a full-term normal spontaneous delivery of a preg• nancy marked only by a URI with hemoptysis at 5 months. The child was not cyanotic at birth. At 3 days of age a loud systolic murmur was heard along the left sternal border. EKG and X ray at that time suggested left ventricular hypertrophy. After the child was taken home cyanotic spells occurred. In New Britain Hospital the patient was noted to be in acu te respiratory distress with a pulse of 200 and faint cyanosis of the lips and palms. The liver and spleen were palpable 1 cm below the costal margin. Lab studies were inconclusive except for an EKG which showed an incomplete right bundle branch block (RBBB) with right ventricular hypertrophy (R VH) and left-axis deviation. The patient was then admitted here for further workup on January I, 1955. X-ray studies revealed pulmonary emphysema, vascular congestion, and cardiomegaly involving the left atrium, left ventricle, and right ventricle. These films were considered compatible with transposition. This was con• firmed on angiography together with an interventricular septal defect (IVSD) and Case Descriptions 171

patent ductus. The patient was digitalized and weaned from O2, On March 3, 1955, at operation an interatrial septal defect (lAS D) was created. The patient recovered from this satisfactorily. URI occurred after discharge. As early as April 29, 1955, clubbing of the extremities was noted along with an anemia. The patient also went into congestive failure. The patient had an episode of pneumonitis in December, 1955, but responded well to antibiotic therapy. Followup in January and February, 1956, revealed a Hct of70% and an RBC of7, 100,000. Following admission, successive phlebotomies lowered the Hct to 59%. On March 20, 1956, another operation was performed to create an IASD. After the operation the patient developed various cardiac arrythmias and expired.

Autopsy Diagnosis Transposition of aorta and pulmonary artery with interventricular septal defect; interatrial septal defect; right ventricular hypertrophy; dilatation and thickening of the pulmonary artery and tortuosity of fine branches.

Case 30 (AI1650, 1 month, 28 Mar 56)

Clinical History This child was admitted with a diagnosis of congenital heart disease on March 7, 1956. He was the product of a full-term normal delivery. He was cyanotic at birth, was placed in oxygen and given antibiotics after delivery. There were recurrent episodes of cyanosis. On the 18th day of life, having been discharged on the 9th, he was readmitted to a hospital. Respirations were found to be gasping and he was occasionally cyanotic. Antibiotics were administered because it was thought that there was also a pneumonia. The child was discharged after digitalization. Clinical examination at the time of admission revealed a temperature of 99.3°, a pulse of 146, and respirations of 50. There was minimal cyanosis of the nailbeds. The second pulmonic sound was split and louder than the second aortic sound. No murmurs were heard. The liver was just palpable. The lungs were clear. There were no other findings of note. The initial impression was cyanotic congenital heart disease, possibly transposi• tion of the great vessels, and anomalous venous return. It was thought that truncus

was unlikely because of the split P2 • Mitral atresia, was evident. An electrocardiogram showed a moderate right-axis shift and right ventricular preponderance. There was also evidence of digitalis effect in each of several elec• trocardiograms that were made which did not vary, until terminally. At fluoroscopy there was evidence of right auricular enlargement and right ventricular enlargement; the aortic arch was on the left side. There was no evidence of marked cardiac enlargement. Pulmonary vascularity was considered normal by some observers, but by others it was thought that the trunk of the pulmonary artery, and possibly its major branches, were enlarged. On the basis of the observations, it was thought that primary pulmonary hypertension was the most likely diagnosis. Other diagnoses considered were anomalous pulmonary venous return and pulmonic stenosis. On March 10, 1956, the child became suddenly markedly cyanotic. When examined at this time, it was found that he had a very marked bradycardia, with 172 Case Descriptions cardiac arrest, following which he went into opisthotonus, perhaps because of cere• bral anoxia. For the rest of his time in the hospital, there were repeated episodes of apnea with increase in cyanosis. The child, however, did reasonably well until March 28. At this time he was prepared for angiography. This was considered necessary to establish an accurate diagnosis, although it was acknowledged that the risk of the procedure was great. Twelve ml of 10% urokon were injected into the saphenous vein followed by 8 ml of 2.5% glucose plus 0.45% saline. The child held its breath during angiography. Following this, he became apneic and cyanotic, but forced breathing of oxygen appeared to have a good effect. The electrocardiogram, which was used continuously for monitoring, showed a slow sinus rhythm; very large T waves were observed, and the heart finally stopped. Throughout his course, the temperature was normal but the pulse rate usually exceeded 100 and was frequently as high as 152 and 160.

Autopsy Diagnosis Muscle hypertrophy and proliferation of the pulmonary vascular bed; thrombus of a branch of the left pulmonary artery; dilatation and hypertrophy of the right heart; probe patent atrial septal defect; cyanosis of nailbeds; surgical incision on the right crural region.

Case 31 (AI 1977, 5 days, 8 Oct 56)

Clinical History This 5-day-old infant developed cyanosis shortly after delivery. She was placed in O2 and transferred to GNHCH for evaluation. Her mother was 21 years old and has rheumatic heart disease.

PE on admission showed a T of 99.3°, R of 60-80, and P of 160. Color in O2 was dusky. A Grade II blowing, harsh systolic murmur was present in the first and second intercostal spaces. The murmur was continuous and heard along the left sternal border. A short systolic murmur was heard in the third and fourth intercostal spaces. p. was booming. No peripheral edema was present. Fluoroscopy was within normal limits. Anteroposterior (AP) position of the heart was normal. Pulmonary vascular markings were normal. Left aortic arch was present. EKG showed right-axis deviation and right-ventricular preponderance which was interpreted as normal for this age. The baby did well until her 5th day of life when she suddenly became apneic, her pulse dropped to 100, and her liver was felt I FB below the costal margin. Several minutes later the infant expired.

Autopsy Diagnosis Atretic aortic valve with hypoplastic aorta; high interventricular septal defect with large overriding pulmonary aorta; patent ductus arteriosus; patent foramen ovale; petechiae of viscera. Case Descriptions 173

Case 32 (Al20l7, 16 years, 26 Oct 56) Clinical History This patient was a 16-year-old white girl with a life-long history of cyanotic congenital heart disease. The child was born I month prematurely and at birth weighed 4 Ib 2 oz. The pregnancy had been uneventful and delivery was spontaneous and normal. The child was cyanotic from birth, but despite limited exercise tolerance she was able to attend school. At age 5, she was seen by Dr. Helen Taussig of Balti• more who thought that she had Eisenmenger complex or a high interventricular septal defect. She continued to do fairly well. At age eight she was admitted for the first time to G NHCH. Cardiac catheterization was carried out. Impressions at this time were right pulmonary hypertension. The general impression was that an Eisenmenger complex was present. At age 9 the child was admitted for the second time to this hospital. A technically poor angiogram was carried out and this showed a large pulmonary artery. The impression was again Eisenmenger complex. At age 9112, the patient was admitted again to this hospital. At this time she could walk up one flight of stairs, or walk two to four blocks without undue difficulty. She was still getting along well in school. Cardiac catheterization studies ruled out pulmonic stenosis. At age 10 the child had several episodes of epistasis. She was treated and followed in the Cardiac Clinic. At age 12, she was admitted for the fourth time with hematemesis. The diagnosis at that time was pulmonary infarction. The hematocrit was 79. The patient underwent several phlebotomies. These had been periodically carried out up until the time of her final admission. At this time, the patient com• menced having persistent albuminuria. The serum nonprotein nitrogen (NPN) was 21.5 and the whole blood NPN was 37.5. The patient continued to attend school. She could walk several blocks but always demonstrated cyanosis which increased with exercise, excitement. and infection. She was admitted for the fifth time at age 14. Angiocardiograms were done and the impression again was Eisenmenger com• plex with interventricular septal defect. At age 14112, the patient was admitted again for cellulitis of the mouth at the site of a tooth extraction. At this time the diagnosis of a single ventricle was entertained for the first time. She was readmitted 3 weeks after discharge because of dyspnea on exertion and edema. The patient was digi• talized, and a good response was obtained. She was noted to have a low-grade fever at this time. Intravenous pyelograms and retrograde pyelograms were both within normal limits. The patient continued to run a low-grade fever and after 3 months was admitted for the ninth time for suspected subacute bacterial endocarditis. The patient's blood cultures. however, were persistently negative. At this time, the diag• nostic possibility of Taussig-Bing syndrome was suggested. The cause of the fever was never established, despite a most intensive search for a focus of infection. She was treated for a month with penicillin and streptomycin. After discharge, the patient did rather poorly at home and was readmitted for the tenth time 1 month later because of increasing congestive . This was brought under control with a higher digitalis dose. Subsequently, she was also treated with mercurials. Eight months prior to her final admission, at age 16, she was readmitted for the II th time because of hemoptysis. No definite etiology was found. She was treated with 174 Case Descriptions phlebotomy and discharged. Six months prior to her final admission she was ad• mitted for the 12th time for phlebotomy. The hematocrit at that time was 72. The patient at this time was practically bedridden because of dyspnea. Four months prior to her final admission, the patient's NPN was noted to be 55; the CO2 was 17.8 and the chloride was 111.6. The impression was that chronic cardiac acidosis was present. Two months prior to her final admission, the patient began complaining of an increased shortness of breath and headache. It was felt that her cardiac decompensa• tion was increasing. The headaches persisted as did her respiratory distress. One month prior to admission, she complained of pain in the muscles of the thighs and arms. One week prior to her final admission, the patient's headache became more severe, and she commenced having difficulty with vision. The lower part of the patient's visual field appeared to be covered with a blind spot. One day prior to admission she became quite lethargic; she slept for the 24 hr prior to her final admission. Physical examination on admission revealed temperature of 99.2°, pulse of 110, respirations of 32, and blood pressure of 140/90. The patient presented as a chronically ill white girl who exhibited marked emaciation and appeared younger than her recorded age. Obvious cyanosis was present over the lips. Marked clubbing of fingers and toes was evident. The patient appeared lethargic. The skin was markedly dry and mildly cyanotic. Fundoscopic examination revealed poor defini• tion of the right disk margin. The veins were distended, but hemorrhages or exudates were not apparent. Examination of the heart revealed an enlargement to the left by palpation. The point of maximum impulse was felt to be in the anterior axillary line.

A systolic murmur was heard throughout the entire precordium. P2 was greater than

A2• No gallop was heard. There was a normal sinus rhythm. Harsh breath sounds were evident throughout all lung fields, but no rales could be detected. Abdominal examination revealed that the liver edge was depressed 2 FB and was very tender. The spleen was easily palpable I FB below the left costal margin, but no other masses could be detected. Examination of the back revealed marked scoliosis. Club• bing was present in all digits. The impression on admission was congenital cyanotic heart disease of the following possible types: (1) Eisenmenger complex with an IASD; (2) IVSD; (3) single ventricle; and (4) Taussig-Bing syndrome.

The patient was continued on digitalis and given O2, A phlebotomy of 275 ml was carried out on the 3rd day. Heart rate increased to 200 and was irregular. She expired on the evening of the 3rd hospital day.

Catheterization Studies 2 May 50 Pulmonary artery pressure, 80 mm Hg (mean) Right ventricular pressure, 40 mm Hg (mean)

Autopsy Diagnosis Congenital heart disease with single ventricular chamber and transposition of great vessels; focal microscopic myocardial scars; cardiac hypertrophy; multiple pulmonary infarcts; pulmonary congestion; perivascular hemorrhage, focal atelec• tasis; medial hypertrophy of pulmonary arterial vessels; medial necrosis, thrombosis Case Descriptions 17S and angiomatoid proliferation of pulmonary arterioles; proliferation of bronchial arteries; chronic passive congestion of liver and viscera; hypertrophic pulmonary osteoarthropathy.

Case 33 (AI2066, 4 days, 21 Nov 56)

Clinical History This female child was noted to be cyanotic within I hr after delivery. The cyanosis increased with crying. Neither pregnancy nor labor had been complicated in the 21-year-old primiparous mother. There was no history of disease in either parent. On admission, the day after birth, P was 140 with R of 80. Marked cyanosis was present. The chest was clear to P and A with no murmurs heard. The liver was present on the left side with its edge descended I cm. EKG showed extreme right-axis deviation. Fluoroscopy revealed a concavity in the region of the pulmonary artery (PA) and pulmonary vascular markings were thought to be diminished. Barium swallow revealed a possible right aortic arch with a wide base suggesting transposition of the great vessels. On the 3rd hospital day apneic spells ensued with increasing cyanosis, and the child expired on the 4th day of life.

Autopsy Diagnosis Transposition of great vessels; dextrocardia; pulmonary artery atresia; large interauricular septal defect; absent interventricular septum; anomalous pulmonary venous return to inferior vena cava; bilateral three-lobed lungs; situs inver sus of abdominal viscera; absent spleen; hepatomegaly.

Case 34 (AI2407, 10 years, 10 May 57) Clinical History This was the ninth admission on May 7, 1957, of a IO-year-old white male who was referred in with the chief complaint of dyspnea. The patient was known to have congenital heart disease of the cyanotic type since birth. An angiocardiogram done in July, 1956, was read as showing congenital heart disease with a right-to-Ieft shunt, probably an interventricular septal defect with right ventricular enlargement and aneurysmal dilatation of the pulmonary artery. However, he did have a past history of . Two weeks prior to this admission he developed a chronic hacking nonproductive cough. This was treated with cough syrup and penicillin. He had a progressive increase in the severity of his cough and also of the dyspnea. PE on admission included a P of 110, R of 30, and BP of 130/100. The child was cyanotic and exhibited clubbing of his fingers. The left anterior hemithorax was prominent, especially over the precordium. The heart was grossly enlarged with regular sinus rhythm. There was a diastolic thrill at the left sternal border. Ausculta• tion revealed a Grade III harsh diastolic murmur and a Grade II blowing systolic murmur over the precordium and transmitted to the back. The liver was down 2 FB. 176 Case Descriptions

On admission the Hb was 22.6 and the Hct was 65. The patient was placed in

O2 and given penicillin, and his digitoxin was continued. On the evening of admission, the patient began to complain of chest pain. This was at first located over the left subscapular region and was intensified with respiration. There was a ques• tionable rub over this area. During hospitalization, the pain became worse and radiated to the back. A chest X ray revealed further enlargement of the heart and a density in the left hilar area. Fluoroscopy showed vigorous pulsation of the dilated pulmonary artery. In review, a catheterization done in 1951 showed an interven• tricular septal defect and dilatation of the pulmonary artery. The pressure in the pulmonary artery at that time was 120/57. One inconsistency with this diagnosis was that the O2 saturation of the pulmonary artery was higher than that of the femoral artery. It was thought that although transposition of the great vessels might be responsible for this discrepancy, against it were two factors: (I) the catheter was seen in the right lung by X ray; and (2) EKG revealed a single ventricle pattern which was incompatible with transposition. However, because of the child's chest pain and the possibility of dissection in the pulmonary artery with resultant hemorrhage, opera• tion was thought indicated. At operation (3rd day), the aorta was felt to arise from the right ventricle and represented a transposition of the great vessels. While the chest was being closed, the patient went into cardiac arrest and expired.

Autopsy Diagnosis Congenital heart disease; cor triloculare biatriatum with transposition of the great vessels; aneurysm of pulmonary artery trunk with old and recent dissecting aneurysms; patent ductus arteriosus; hypertrophy and dilatation of common ventricle and right auricle; dilatation, hypertrophy, and sclerosis of large pulmonary arteries; angiomatoid lesions of muscular pulmonary arteries; arteriosclerosis; atelectasis, left lower lobe; congestion of liver; clubbing of fingers and toes; recent incision of anterior chest; left hemothorax.

Case35 (AI2416, 8 days, 13 May 57) Clinical History The patient was admitted to this hospital at age 5 days with a history of cyanosis from birth. PE here showed intense cyanosis. The lungs were clear. A high• pitched harsh systolic murmur was heard over the precordium, most marked over the right sternal border. The liver was down 3 FB from the costal margin. X rays showed the heart to occupy the right side of the thorax, and lung fields were described as showing decreased vascular markings. The baby was digitalized and kept in O2, After many episodes of cyanosis and tachycardia it was decided to operate. At operation a smalI pulmonary artery was noted. The left pulmonary artery was transected with the proximal end ligated and the distal end anastomosed to the side of the aorta. The baby expired about 24 hr after the operation.

Autopsy Diagnosis Dextrocardia with situs inversus; transposition of great vessels; atretic pulmonary valve; hypoplasia of pulmonary artery; high interventricular septal defect; anomalous pulmonary venous drainage of left upper lobe vein into left supe- Case Descriptions 177 rior vena cava; drainage of right superior vena cava into dilated coronary sinus; patent foramen ova Ie; patent ductus arteriosus; distal end of pulmonary artery which includes left pulmonary artery and patent ductus anastomosed to the side of the aorta and the proximal end which includes right pulmonary artery ligated; two accessory spleens.

Case 36 (AI3364, 2 days, 21 Oct 58)

Clinical History This 2-day-old white female was transferred from the nursery at I day of age. The patient was the product of a full-term uncomplicated pregnancy in a 26-year• old, gravida I, para I female. Five hours after delivery dyspnea and rapid respira• tions were noted. The infant appeared dusky and had a heart rate of 170 with a gallop rhythm. Liver was 3 cm down from the costal margin and a spleen tip was felt. Later a systolic murmur was heard. On admission to the floor, the infant was cyanotic with P of 180 and R of 34. A Grade I systolic murmur was present at the apex. The PMI was in the right midcla• vicular line. The liver edge was down 4 cm from the costal margin.

She was placed in an O2 tent and was found dead the following morning.

Autopsy Diagnosis Congenital heart disease; aortic stenosis with aortic valvular atresia; hypoplastic left ventricle; patent foramen ovale; patent ductus arteriosus; passive congestion of liver.

Case37 (A13514, I year. 24 Sep 58)

Clinical History The child was born in New Haven Hospital on July 3, 1957, by Caesarean sec• tion. The indication of section was a previous section. The 1st day of life a was noted. An electrocardiogram showed left-axis deviation with horizontal position and possible left ventricular hypertrophy. Fluoroscopic exam revealed slight cardiomegaly with a prominent bulge of the right cardiac border and normal pulmonary vascular markings. The blood pressure in the arms was equal to the blood pressure in the legs. The child was not cyanotic and did not require digi• talis. She was discharged on the 10th day of life with a diagnosis of congenital heart disease with a possibility of intraventricular septal defect. She was followed until age 2% months when a systolic murmur and thrill along with cyanosis were noted. Her major problem was poor weight gain and by age 7 months the child was obviously cyanotic; further studies indicated right auricular hypertrophy, left ventricular hypertrophy and decreased pulmonary blood flow. At this time it was thought that she had tricuspid atresia or stenosis. On April 2, 1958, angiocardiography revealed dye entering by left superior vena cava into a great coronary sinus; a large right atrium was visualized and immediate filling of the left atrium followed. Then the dye went into a chamber considered either to be a common ventricle or left ventricle, and dye entered the pulmonary artery in simultaneous order. The child did relatively well until age 14 months, at which time she showed retardation. She could sit quietly 178 Case Descriptions but did not walk and was unable to pull herself to an erect position. On the day prior to admission for the final time, on September 24, 1958, she developed a fever. Following an episode of complete unresponsiveness she was brought to the ER where the lungs were found to be full of rales, and the liver was 2 cm below the costal margin. She was immediately admitted with the admission diagnosis of conge• nital heart disease, probably tricuspid stenosis with possible cerebral anoxia and/or infection. She was treated with oxygen, antibiotics, and intravenous therapy. Lumbar puncture was within normal limits. She continued with showing focal neu• rological signs primarily left-sided, and suddenly she developed dilated symmetrical pupils and respirations ceased at 9:40 p.m. on December 24, 1958.

Autopsy Diagnosis Congenital heart disease with atresia of the tricuspid valve; interatrial and interventricular septal defects; dilated right atrium; dilated and hypertrophied left ventricle; hypoplastic right ventricle; bacterial endocarditis involving the interven• tricular septal defect; persistent left superior vena cava; accessory spleen.

Case 38 (A13574, 2 days, 21 Oct 58)

Clinical History This 2-day-old white female was the product of an uncomplicated full-term pregnancy in a gravida 4, para 3 mother. PE at birth revealed a normal female infant with no gross malformations. Jaundice appeared within 12-24 hr along with dusky cyanosis. After 24 hr T was 100.6°. Within 48 hr, pulse rose to 160, respirations were 110, and a rough, high-pitched systolic murmur was noted in the apex, transmitted to the rest of the chest. The liver edge was 5 cm below the costal margin. The child was transferred to pediatric service and digitalized. Previously, penicillin and chloromycetin were given for treatment of possible sepsis. X rays showed prominence of pulmonic segment, large right atrium and increased pulmonary vascular markings. EKG revealed a sinus tachycardia, prominent P waves and right ventricular hypertrophy. Periods of apnea ensued, and the child expired during such a period. Final impression was congenital heart disease, type unknown.

Autopsy Diagnosis Congenital heart disease; interatrial septal defect; hypoplasia of left atrium, left ventricle, mitral and aortic valves, and arch and ascending portion of aorta; patent ductus arteriosus: hypertrophy and dilatation of right atrium and right ventricle; acute passive congestion of viscera, severa; fatty change and acute centrilobular necrosis of liver: hepatomegaly; splenomegaly.

Case 39 (A 13598, 6 1/2 months, I Nov 58)

Clinical History This was the seventh admission of this 6V2-month-old boy who was admitted for cardiac surgery. The child was first seen at birth, April 12, 1958, at which time Case Descriptions 179 he was thought to be a normal full-term infant, and no abnormalities were noted. At the age of I month, on May 16, 1958, the patient was admitted with a chief com• plaint of swelling of the hands and feet that had existed 3-5 days. In his 1st month he had increased from 6 lb 3 oz to 6 lb 13 oz. His mother noted that he appeared to tire easily while feeding and that there was a bluish discoloration to his lips when the baby cried. There were three older siblings who were living and well, and there was no familial history of congenital heart disease. Physical examination at the time of second admission revealed a pulse of 140, respirations of 112. The pulse was said to be irregular, and at least one observer felt that a gallop rhythm was present. A harsh systolic murmur was heard in the second left interspace with no diastolic component. Pulmonary second sound was louder than the aortic second sound. Femoral pulses were present bilaterally and full. Blood pressures obtained in both arms and legs were not significantly different. A minimal amount of circumoral cyanosis was noted when the baby cried. The spleen was felt 2 or 3 cm below the left costal margin and the liver was 5-6 em below the right costal margin. Marked pitting edema was present in the extremeties. The admitting diag• nosis was impending congestive heart failure due to congenital heart disease of unknown type. Laboratory studies carried out on the second admission included an electrocar• diogram which showed right-axis deviation. X rays of the chest showed marked cardiomegaly and an increased vascularity of the lungs. Angiocardiogram was finally interpreted as showing a communication between the right and left sides of the heart, felt to be interauricular. and a possible anomaly of the great vessels. The patient was digitalized and given oxygen therapy, and he gradually improved and started eating again. He was discharged home after 2 weeks and continued to gain weight slowly. He remained on digitalis therapy. Three weeks later the child was again admitted, following a I-week upper respiratory infection with coryza. lethargy, and poor feeding. Pulse was 156, respira• tions 84, and X ray of the chest showed progressive enlargement of the heart with vir• tually no pulmonary markings visible in the entire left hemothorax. The patient improved and was readmitted I month later for retrograde aortogram study. At this time a definite coarctation at a point distal to the left subclavian artery was noted. Pulses and blood pressures in upper and lower extremities failed to reveal any dif• ferences. Cardiac catheterization was done at the age of 5 months. Physical exam revealed a loud and grinding systolic murmur. Pulse was 140 and respirations were 60. Cardiac catheterization studies suggested an atrial septal defect was not present. However, the cannula was passed into the left ventricle, and it was felt that a ven• tricular septal defect was present. The patient underwent a thoracotomy on October 30, 1958. Findings were as follows: (I) patent ductus arteriosus; (2) a minimal coarc• tation of aorta; and (3) a tremendously dilated pulmonary artery. Minimal flow was found in the patent ductus arteriosus (PDA), and pressures obtained above and below the coarctation were essentially the same. It was felt that the dilated pulmonary artery was presumably due to the ventricular septal defect which was felt to be present. Operative procedures included ligation and resection of the PDA, banding of the pulmonary arter) with a length of umbilical tape, and a lung biopsy. After banding of the pulmonary artery there was a slight reduction in the pulmonary 180 Case Descriptions arterial pressure from 45/30 mm Hg to 36/25 mm Hg. The patent ductus was proximal to the coarctation. Other findings at operation were (1) when the aorta was clamped at the level of the coarctation, there was no change in the proximal which remained at 70/55 mg Hg. The distal aortic pressure, however, fell to 40/38 mg Hg. This was true whether the ductus was simultaneously occluded or not. (2) There was no change in the aortic pressure either proximally or distally on clamping of the ductus. During surgery a temporary cardiac arrest was treated with calcium chloride and sodium lactate and massage with good return of function. Postoperatively the patient responded poorly and maintained poor color and poor vital signs, and cardiac arrest again occurred 2 hr after surgery which remained refractory to 1112 hr of massage.

Catheterization Studies 18 Sep 58 Right atrial pressure, 10 mm Hg (mean) Right ventricular pressure, 82-109/13-16 mm Hg Left ventricular pressure, 103-114/3-15 mm Hg Right brachial artery pressure, 90-115/43-50 mm Hg

Autopsy Diagnosis High interventricular septal defect; dilated pulmonary artery; postductal coarc• tation of the aorta; single-lobed left lung; blood in stomach and trachea; acute and chronic passive congestion of liver and spleen; atelectasis of left lung; left and right ventricular hypertrophy; pulmonary artery sclerosis; focal alveolar hemorrhages.

Case40 (AI3635, 18 years. 12 Nov 58) Clinical History This 18-year-old white male was admitted on November 6, 1958, for elective open heart surgery. The present illness dates back to 1940 when the patient was 6 months of age and described as having a heart murmur. During infancy and early childhood. the patient had several attacks of pneumonia. He also had several epi• sodes of cyanosis, was known to develop cyanosis after strenuous exercise, but had good tolerance for mild exercise. At the age of 6 months, following hospitalization for pneumococcal pneumonia, the patient was digitalized although he had never been in congestive failure. During childhood, the patient denied ever having any orthopnea. edema, , chest pain, or squatting. However, the patient's physical development had been moderately retarded. In 1950, at the age of 10 years, cardiac catheterization was done. The catheter was easily passed from the right

ventricle into the left auricle. O2 saturations were the following: SVC, 67%; RA, 86%; LA. 91 o/r; RV. 82%; region between LV and RV, 93%; FA, 89%. The pressures measured in the RA were 10/0, in the LA 10/0, and in the RV 116/5. It was not possible to pass the catheter into the pulmonary artery. The calculated systemic blood flow wa, 5.4 liters/min. The right-to-Ieft shunt was calculated as I liter/min and the left-ta-right shunt was calculated as 5.6 liters/min. A chest film at this time showed cardiac enlargement involving predominantly the RA and RV. EKG showed R VH and incomplete RBBB. Repeated EKGs continued to show a RBBB and a prolonged PR ! nterva!' Case Descriptions 181

In the early part of 1957 the patient noted a progressive lumbodorsal scoliosis and was treated in the Orthopedic Clinic with physical therapy. X ray done in Sep• tember, 1957, showed severe scoliosis with rotation of the upper lumbar vertebra; however, the vertebral bodies in the intervertebral disk appeared intact. In March, 1958, the patient was readmitted to the hospital for repeat cardiac catheterization. At this time, O2 saturations were: IVC, 64%; SVC, 53%; PV, 95%; RV inflow, 72%; RV outflow, 76%; PA, 82%. Pressures included: PA, 18-20/5-10; RV, 117-125/10; FA, 132/80. EKG showed first degree AV block and RBBB. PE on admission in November, 1958, revealed BP of 115/60, R of 16, and P of 76. Slight cyanosis of the nailbeds was present. Marked left lumbo-dorso scoliosis with prominence of the left posterior thoracic cage and right superior iliac crest were noted. The lower border of cardiac dullness (LBCD) was in the AAL in the fourth intercostal space (lCS). A Grade IV systolic thrill was felt best in the second ICS to the left of the sternum. There was a Grade IV harsh, systolic murmur heard loudest over the pulmonic area and the left sternal border. P2 was normal and A2 was slightly diminished. Lab data were within normal limits. On November II, 1951{. an open heart procedure was attempted. Following potassium arrest. an Ivalon patch was sewn over the atrial septal defect. The tri• cuspid valve was reconstituted. lasted for 1 hr and 50 min with arrest for 50 min. During the procedure the patient received 400 ml of glucose and 1750 ml of blood. Postoperatively the patient had a systolic BP of 82. Levophed was necessary to maintain the BP. Seven hours postoperatively the blood pH had dropped to 7.22. Nine hours postoperatively the BP declined despite vasopressors and the patient expired at I a.m. on November 12. 1958.

Catheterization Studies 1950 Right atrial pressure, 10/0 mm Hg Right ventricular pressure, 116/5 mm Hg Left pulmonary artery pressure, 18-20/5-10 mm Hg Mar 58 Pulmonary artery pressure, 18-20/5-10 mm Hg Right ventricular pressure, 117-125/10 mm Hg Femoral artery pressure, 132/80 mm Hg

Autopsy Diagnosis Ostium atrioventriculare commune; recent thoracotomy and surgical repair with insertion of artificial septum; right hemothorax; fibrinous pericarditis; acute cerebral anoxic changes; infundibular pulmonary stenosis; persistent left superior vena cava; right ventricular hypertrophy; dilatation of right ventricle and right atrium; chronic passive congestion of liver; congestion of viscera; accessory spleens; mesenteric commune.

Case 41 (A 13769, I year, 15 Jan 59) Clinical History The child had been born of a full-term spontaneous delivery, and the pregnancy was considered as being normal. There was no notable family history. His present illness dated to December. 1957. at which time the child was 2 months old. His 182 Case Descriptions mother noted that he became blue when he cried. He was admitted to the Bridgeport Hospital, and he was found to have cyanosis and a systolic murmur. An electrocar• diogram was suggestive of right ventricular hypertrophy while the X ray was considered as being within normal limits. Clinical impression was tetralogy of Fallot, and no therapy was instituted. He was admitted to New Haven Hospital on January 3, 1958, and X-ray studies and an electrocardiogram at this time were interpreted as being compatible with tetralogy. He was returned to this hospital on February 10, 1958, and on February 20 a Pott's procedure was performed between the left pulmonary artery and aorta with a side-to-side anastomosis. Following this operation his color improved, and his recovery was regarded as uneventful. He did relatively well until December, 1958, when the cyanosis recurred and he began to have shortness of breath. It was felt at this time that his cyanosis was probably due to the closure of the Pott anastomosis. He was found to be anemic; he was transfused and readmitted for the fourth time on January 5, 1959. At this time the physical examination revealed a small cyanotic male infant who was hypertonic and fretful and who cried. Positive findings revealed a liver 3-4 cm below the right costal margin and marked cyanosis while crying. Arterial saturation studies revealed that 75% of the venous return entered directly into the systemic circulation without tra• versing the pulmonary circuit. On January 15 a Blalock procedure was performed, and shortly following the operation the patient had respiratory arrest which necessi• tated bag breathing. He seemed to respond well; however, respirations again decreased, and he had a cardiac arrest I hr and 20 min postoperatively. Cardiac massage was unsuccessful.

Autopsy Diagnosis Tetralogy of Fallot; enlargement of liver and kidneys; anoxic changes in Ammon's horn; cerebellar hemorrhage; focal cerebellar atrophy.

Case 42 (AI3775, 2 days, 17 Jan 59) Clinical History The child was the product of a normal, spontaneous full-term delivery and apparently was well immediately postdelivery. At 6-7 hr after birth, however, the child was noted to be cyanotic when disturbed or cried and was noted to feed poorly. The second physical examination revealed that the respiratory rate had risen and was somewhat labored. A systolic murmur was heard over the precordium. At this time the diagnosis was congenital heart. The cyanotic type was entertained. The sub• sequent examination revealed progressive liver enlargement and it was believed the child was in right-side heart failure. Digitalis was begun. Oxygen therapy was insti• tuted shortly thereafter. The murmur then evolved to a low-pitch systolic murmur, and the pulmonic second sound was single and louder than the aortic second sound. The peripheral pulses were present and equal. The electrocardiogram showed tall P waves in lead 2 and there was no clear-cut transition in the precordial lead. There was also inverted T waves in leads V5 through V6. Fluoroscopy revealed a somewhat egg-shaped heart. The base was narrowed but not as narrowed as would be expected in a complete transposition. The pulmonary vascular markings were quite Case Descriptions 183 diminished. Impression at this time was single ventricle with pulmonic stenosis or possibly a tricuspid atresia. In spite of the usual measures the child died shortly thereafter.

Autopsy Diagnosis Hypoplasia of right ventricle; tricuspid hypoplasia; pulmonary atresia; dilata• tion and hypertrophy of right and left atria and left ventricle; generalized visceral congestion; acute superficial gastric ulcer; blood (minimal) in stomach.

Case 43 (AI3795, 2 months, 27 Jan 59)

Clinical History This 9-week-old white male was admitted on December 26, 1958, for heart failure. The patient was the produce of a full-term uncomplicated pregnancy in a 23- year-old gravida I, para 1 mother. During the neonatal period bilateral cephalo• hematomas were noted. Weight gain was poor. At 1 month of age a Grade III sys• tolic murmur was heard transmitted to the left axilla. Liver edge was at the costal margin. No cyanosis was noted. On admission P was 160, R was 80, and Twas 98.2°. Color was good except for a blue glans penis. Fine moist rales were present in both lung fields. Both costal and sternal retractions were present. A Grade III precordial systolic murmur was heard. P2 was greater than A2 and was not split. There were no thrills. Liver edge was down 4 cm. Radial and brachial pulses were good, but femoral pulses were barely palpable. BP in the arms was 110-120 whereas in the legs it was 80-90. Pre• tibial edema (2 +) was present. Lab data included a Hb of 12, Hct of 39, and WBC of 9100. EKG revealed right ventricular strain. The child was digitalized. X-ray examination showed left ventricular hypertrophy with increased pulmonary vascular markings. Angiography on January 15, 1959 showed coarctation of the aorta and IVSD. Operation was performed on January 26. 1959. The left subclavian artery was anastomosed to the aorta distal to the coarctation. During the procedure the heart went into ventricular arrhythmia but was revived. Several hours postoperatively, respirations were labored with bilateral rales. Pulse slowed and disappeared. Resuscitative efforts over a 2-hr period were of no avail.

Autopsy Diagnosis Coarctation of aorta; interventricular septal defect; marked cardiac hyper• trophy and dilatation; pneumonitis.

Case 44 (A13861, 3 months, 27 Feb 59)

Clinical History This 12-week-old white male was admitted on February 19, 1959, because of respiratory difficulty. He was the product of a full-term uncomplicated pregnancy. He did well until the 5th week of life when he started to lose weight. During the 6th week a heart murmur was heard along with coughing after feedings. At 8 weeks of 184 Case Descriptions age cyanosis of the fingers appeared. In the Cardiac Clinic, EKG revealed right-axis deviation, incomplete right bundle branch block, and right ventricular and slight left ventricular hypertrophy. By fluoroscopy, he showed increased pulmonary bronchovascular markings and enlarged right heart. PE at that time revealed Grade II-III systolic murmur along the left sternal border and at the apex. It was also referred to the back. Liver edge was down 1-2 FB. He was digitalized. Coughing increased in severity the 12 hr prior to admission. PE on admission revealed T of 99.9°, P of 160-170, and R of 70. Subcostal retractions and grunting respirations were present. He was acyanotic. Left lung WllS hyperresonant pos• teriorly, and rales were present at the right base. PMI was at the AAL. A systolic thrill was felt along the left sternal border with precordial thrust. P2 was soft and blurred. A moderately intense, harsh systolic murmur was heard along the left sternal border and transmitted to the back. Rate was 160-170 without a gallop. Liver edge descended 3 cm below the costal margin. Good peripheral pulses were present. Lab data included Hb of 11.2, Hct of 34, and WBC of 18,550. X rays were compatible with either pneumonitis or chronic congestive failure. He was continued on digitalis. He continued to feed poorly. One week later the child ceased respira• tions at the start of a lavage feeding.

Autopsy Diagnosis Congenital heart disease; high interventricular septal defect with overriding aorta; right ventricular hypertrophy and dilatation and enlargement of pulmonary artery (Eisenmenger complex); patent foramen ovale; pulmonary edema and conges• tion; focal pneumonia, bilateral; congestion of viscera.

Case 45 (A1390L 14 days, 19 Mar 59) Clinical History The child was born on March 4, 1959, in GNHCH. The mother had an uncom• plicated pregnancy except for a cystitis at the end of the first trimester. Gestation was estimated at 41 weeks. The child was delivered by low forceps. The child did well during the first 5 days of life, and physical examination revealed no evidence of cardiac disease. One day prior to admission the mother noticed a slight blueness around the child's lips and mouth. On the morning of admission, the child took little food, and the family physician saw the child and noted a very rapid pulse and rapid respirations. The child was immediately hospitalized on March 17, 1959. Physical examination on admission revealed a temperature of 97.5°, respirations 80, and pulse 160. The child appeared as a well-developed and well-nourished white male with slight circumoral cyanosis and flaring of the nostrils. The head appeared unremarkable. and the eyes, ears, nose, and throat showed no abnormalities. The neck was supple. and lungs were clear to percussion and auscultation. The heart rate was rapid, but no murmur or cardiac enlargement was found. The abdomen was soft with the liver palpable 4 cm below the right costal margin. It appeared soft and nontender. The genitalia showed no significant abnormality, and the neurological examination was unrevealing. Case Descriptions 18S

Following admission on March 17, 1959, the child did well for approximately 12 hours and then began to appear dusky despite the fact that oxygen was given. The chest remained clear with no rales or dullness, and there was no peripheral edema. However, digoxin was given with little result. X rays of the chest were read as com• patible with congenital heart disease. It was felt that some other process beside cardiac disease was present, and penicillin and chloramphenicol were administered. The electrocardiogram showed normal axis deviation and deep S waves in the right precordial leads. The clinical impression was that this represented congenital heart disease (single ventricle with pulmonic stenosis), cardiac failure and fibroelastosis. At 6:30 p.m. on March 18. 1959, the child was found dead. Significant laboratory work included a hemoglobin of 18.6 and hematocrit of 54.

Autopsy Diagnosis Congenital heart disease; right ventricular hypertrophy; ventricular septal defect; patent ductus arteriosus; coarctation of thoracic aorta; bicuspid aortic valve; pulmonary congestion.

Case 46 (A13914, 3 months, 25 Mar 59)

Clinical History The patient was born by Caesarean section, the indication for this being a pre• vious Caesarean section in the mother. At the time of birth physical examination showed no abnormalities. The birth weight was 5 Ib 4 oz. At age 6 weeks the child began to spit up his formula and developed a nonproductive dry cough. A heart murmur was heard 2 weeks prior to admission, and he was referred to clinic for further investigation. At this time diagnosis of bronchiolitis was made, and he was treated at his home with a steam vaporizer. Two days prior to admission the child's cough became more severe, and he began to have respiratory difficulty; because of this he was admitted to the hospital. Physical examination at the time of admission revealed a pulse of 180 and respirations of 40. He was in acute respiratory distress, and a grade III systolic murmur was heard over the entire precordium over the left back. No thrills were felt. The abdomen was soft and the liver was down 4 cm. The impression at this time was pneumonitis and acyanotic congenital heart disease, with a question of intraventricular septal defect or patent ductus arteriosus. In the hos• pital the patient was given antibiotics and oxygen and digitalis. He seemed to respond somewhat with ease. However, on the 2nd hospital day, marked respiratory distress ensued. An X ray taken at this time (March 20, 1959) was interpreted as being compatible with bronchiolitis, and his condition stabilized. He showed less respiratory distress although he was still critically ill. On the 7th hospital day the patient's course took a sudden decline. and in spite of the usual resuscitative measures he expired.

Autopsy Diagnosis Bilateral organizing pneumonitis; interventricular septal defect; bicuspid aortic valve; patent ductus arteriosus; mild coarctation of aorta; muscular hyperplasia of 186 Case Descriptions pulmonary artery; pulmonary congestion and edema; passive congestion of viscera; focal fatty change of liver; stenosis of proximal portion of right ureter; multicystic dilatation of right kidney; dilatation of right ureter; bilateral undescended testes.

Case 47 (AI4121, 6 months, 30 Jun 59)

Clinical History This 6-month-old white male was admitted on June 26, 1959, for surgical cor• rection of transposition. Heart disease was suspected at the age of 3 months when the baby became cyanotic. In addition the child showed poor weight gain. During admission at that time the R were 70 and the P 120. No thrills or murmurs were present. The liver was 2 cm below the costal margin. The nailbeds were cyanotic. An EKG showed right-axis deviation, and X rays showed poor pulmonary vascular markings. An arterial O2 saturation was 56% This increased to 84% at rest with O2, Hb was 17/100 m\. During the 3 weeks prior to the last admission, weight gain ceased. Cyanosis persisted. PE included a P of 130, R of 42, and BP of 100. No murmurs were heard. There was no cardiomegaly. The liver was 2 cm below the coastal margin. Marked cyanosis of the nailbeds was present. On the 3rd hospital day the patient was operated upon. The left pulmonary artery was bisected, and the distal portion was anastomosed to the aorta. Postopera• tively the P was 160. Grunting respirations were present. The patient continued to be cyanotic and expired quietly 18 hr after the operation.

Autopsy Diagnosis Transposition of great vessels; agenesis of mitral valve; hypoplasia of left ventricle; interventricular septal defect; endocardial thickening of left atrium; right ventricular hypertrophy and dilatation; thickening of pulmonary arteriolar walls; anastomosis of left pulmonary artery and thoracic aorta.

Case 48 (A 14246, 11/2 years, 17 Aug 59) Clinical History This 20 month-old-boy was admitted for the last time to the pediatric service with the sudden onset of cough and fever. The patient had been the product of a normal pregnancy and was felt to be normal at birth. He did weJl until 2 weeks of age at which time he had an episode of cyanosis, dyspnea, and perspiration. He was admitted to the St. Raphael's Hospital at that time in severe congestive failure. A murmur was heard at that time. X ray showed an enlarged heart with prominent right auricle; EKG revealed left-axis deviation. He was admitted to GNHCH for the first time in January, 1958. X-ray findings were considered consistent with transposi• tion. Angiography revealed a septal defect and a moderate coarctation of the aorta.

CO2 was then 30.5. The patient was operated on and the pulmonary arteries and veins to the left lower lobe were ligated (Liebow procedure). FoJlowing this the patient's condition improved except for several episodes of pneumonitis. Two days prior to the last admission the patient became cyanotic and listless. Case Descriptions 187

PE on admission revealed a P of 160 and R of 60. Coarse rales were present over both lung fields. A Grade II systolic murmur was heard at the left sternal border in the third intercostal space. P2 was greater than A2 • The liver was 3 cm down from the costal margin. On August 16 he became more cyanotic with increased respirations. He became comatose and convulsed. A lumbar puncture revealed grossly bloody cerebrospinal fluid (CSF). He remained unresponsive and expired.

Autopsy Diagnosis Transposition of the great vessels with interventricular septal defect; subarach• noid hemorrhage; multiple foci of intracerebral hemorrhages, ventrum semiovale, corpus callosum, pons, cerebellum, infarcts of right upper, middle and lower lobes of lung; congestion of viscera.

Case 49 (A 14342, 17 days, Oct 59)

Clinical History The child was a product of pregnancy marked by vaginal bleeding in the second trimester. The labor was spontaneous. Birth weight was 3 lb II oz. The child was cyanotic at birth and remained cyanotic in oxygen. The imperforate anus was noted at the time of birth, and on the following day a transverse colostomy was performed and the child was lavage-fed thereafter. Her course subsequently was marked with infil• trates in the lung and respiratory distress. She died suddenly on the 17th day, pre• sumably of aspiration. Laboratory work revealed nothing significant.

Autopsy Diagnosis Anomalous complete pulmonary venous drainage into inferior vena cava via ductus venosus; imperforate anus; aplasia with cystic remnant of rectum; hypoplasia of imperforate vagina; hypoplastic cyst of left kidney; equinovarus and hepatomegaly.

Case 50 (14490, II days, II Dec 59) Clinical History This II-day-old white girl seemed well since birth. On the day of admission December 10, 1959, she suddenly refused her morning formula, and the mother noted puffiness of the left hand. Within 7 hr grunting respirations and abdominal pain appeared. The patient then vomited several feedings and appeared cyanotic. Examination at that time by the family physician revealed a heart murmur and admission was advised. PE on admission showed moderate cyanosis and lethargy. R were 40 and P was 140. No murmurs were heard although the heart appeared to be large. The lungs were clear and the liver was 6 cm below the costal margin. A consult noted splitting of the first heart sound giving the impression of a systolic gallop. There was also splitting of the second heart sound, 188 Case Descriptions and I +, pitting edema of the extremities was noted. The patient was digitalized but did not respond well and expired early in the following morning.

Autopsy Diagnosis Large interventricular septal defect; generalized cardiac hypertrophy and dila• tion, especially of the right ventricle; severe congestion of lungs and viscera; widespread atelectasis of lungs; small intraventricular hemorrhages of brain.

Case 51 (A 14516. 3 months, 28 Dec 59)

Clinical History The child was a product of an uneventful pregnancy and a normal full-term delivery. Birth weight was 8 Ib 10 oz, and apparently the child was normal. Because of poor feeding at home and poor weight gain, he was readmitted to the Norwalk Hospital for evaluation. At this time physical examination revealed dextroposition of the heart. A systolic murmur was heard in both lung fields. An enlarged liver and possible cyanosis and respiratory distress were noted. Because of these he was digi• talized and maintained on digitalis following this time. An electrocardiogram revealed dextrocardia with PI being inverted, the P in AVR being upright. The chest film revealed increased vascular markings and dextroposition of the heart. At the age of 5 weeks he was referred to the New Haven Hospital. On admission, PE revealed a pulse of 130 and respirations of 35 which were irregular. Blood pressure in the left arm was 60 and in the left leg 80. The child was in the 25th percentile for height and weight; the head circumference was in the 50th percentile. He was described as being a hypoactive child who responded to tactile auditory stimuli with crying and who moved all extremeties. There was no cyanosis noted with crying. The pertinent physical findings revealed that there was no cyanosis of the skin. Crackling rales were heard at both bases of the lung, but there was no dullness present. The examination of the heart revealed the point of maximum impulse to be forceful in the fifth intercostal space to the right of the sternal border. There was irregular sinus rhythm at 140. Heart sounds were of good quality, and the area of cardiac dullness extended to the midclavicular line. In the fifth interspace to the right of the sternum a Grade III systolic murmur was heard best along the right sternal border and the midpulmonic area. No diastolic murmurs were heard. The liver was down 3 cm below the right costal margin which was firm with a sharp edge on the right. No pulsations of the liver were noted. The significant impression was that no edema was present nor was there any clubbing. The neurological examination was described as being within normal limits. Significant laboratory findings revealed the hemoglobin to be 16 and the hemato• crit 52. His course in the hospital revealed that he had X-ray studies of the heart includ• ing four views of barium with fluoroscopy, which showed dextrocardia and increased pulmonary blood flow. Cineangiogram was interpreted as showing a dextrocardia and a shunt at the ventricular level. Arterial saturation studies were performed and were interpreted as heing normal. Saturation in the right femoral artery was 100% whle the patient was crying and breathing oxygen. Following workup the patient was Case Descriptions 189 discharged home to return on the following day to the Cardiac Clinic. The impression on discharge was dextrocardia, probable systemic pulmonary shunt, and possible ventricular septal defect with increased pulmonary blood flow. He was readmitted at the age of 3 months with a chief complaint of diarrhea and cyanosis associated with an upper respiratory infection. The patient did not respond to anti• biotic therapy. Physical examination during the time of admission revealed a pulse of 160, regular, and respirations of 52. He had a harsh, loud systolic murmur along the right sternal border. In addition, hepatomegaly was present. The lungs were clear. The impression at the time of admission was congenital heart disease, cyanotic type, a question of truncus, and also diarrhea and failure to thrive. Shortly after admission, the child was found to be without respirations and pulses were less than 5 per min. He was given the usual resuscitative measures but failed to respond and was pronounced dead. Of note in the patient's subsequent history is the fact that a sibling was born in February, 1961, who supposedly had dextrocardia but no obvious difficulty at the age of 2-3 months.

Autopsy Diagnosis Persistent ostium atrioventriculare communis; ostium primum defect; agenesis of septum secundum; patent foramen ovale; complete pulmonary and systemic venous return to left atrium; left atrial hypertrophy and dilatation; hypoplasia of left ventricle; hypertrophy and dilatation of right ventricle; hypertrophy and dilatation of pulmonary artery; incomplete reverse dilation of large bowel; asplenia; trilobed left lung with pulmonary symmetry; pulmonary congestion; generalized visceral conges• tion; pleural, pericardial, and peritoneal effusions.

Case 52 (A14576, 25 years. 22 Jan 60) Clinical History This 25-year-old white female was admitted to this hospital for the fourth time on January 13, 1960, with a chief complaint of swel\ing of the ankles. The patient was the product of a normal ful\-term delivery after a normal pregnancy. She gained poorly in childhood and tired readily on walking. At age 5 she was cyanotic at rest and became more so on exertion. Her cyanosis and clubbing progressed. A generalized precordial systolic murmur best heard at the pUlmonic area; left sternal border was noted, and this was accompanied by a thrill. The second pulmonic sound was diminished. It was thought that she had pulmonic stenosis and an IVSD. In 1946, at the age of 12, the patient was admitted to G NHCH for the first time. Her Hb was 20 g/IOO ml%, with a RBC of 8,700,000, and a Hct of 80.6%. Her

O2 saturation was 59% under normal conditions and rose to 62% on breathing pure

O2 , An EKG showed right ventricular hypertrophy. The impression was that she had a congenital heart disease of uncertain type, possibly Eisenmenger complex, and her condition was thought to be inoperable. The second admission occurred in 1958. when at the age of 24, she was ad• mitted for further evaluation. At this time she had a history of palpitations, dyspnea 190 Case Descriptions on exertion, respiratory wheeze on effort, and continued cyanosis. Venous pressure was 60 mm. H 20, and her circulation time was 11 sec. Cardiac catheterization was carried out and showed a right-to-Ieft shunt and a low pulmonary artery pressure. These findings were thought to be characteristic of infundibular stenosis and tetralogy of Fallot. Her hematocrit at this time was 77% and Hb was 24. The urine contained a trace of albumin. EKG and chest X ray revealed right ventricular hypertrophy. X ray also suggested an excessive bronchial collateral circulation. Angiocardiography was performed and confirmed the diagnosis. The third admission was in October, 1959. On November 10, 1959, she underwent a surgical correction of her cardiac anomalies. Preoperatively O2 satura• tion was 42% and rose to 58% breathing pure O 2• She was bled of 750 ml of whole blood. The operation performed consisted of three procedures. An Ivalon sponge patch of the interventricular septum was put in place in such a way as to also correct the aortic extraposition. Resection of the infundibular stenosis was carried out. A patch enlargement of the infundibulum of the right ventricular outflow tract was performed. She was on cardiac bypass with a pump oxygenator for 2 hr and 52 min. Postoperatively she had poor healing and was in congestive heart failure. She had persistent arrythmias including a right bundle branch block. Her congestive heart failure persisted despite diuretics and digitalis. On November 27 her venous pressure was 290 and on December 10 it was 230. At that time her circulation time was 50 sec. She was discharged on December 14, 1959, 5 weeks following operation. Her Hct on admission had been 78% and at the time of discharge had fallen to 54%. Her blood urea nitrogen (BUN) was 14 on admission but had risen to 60 at discharge. This was thought to be due to hypertension and congestive heart failure. Her conges• tive failure progressed and she was readmitted for the fourth and final time on January 13, 1960, and died 8 days later. On the last admission, measures at correcting her congestive failure were undertaken. PE revealed a BP of 110/80, P of 62, and R of 16. No cyanosis was present. A harsh systolic murmur and also a short early diastolic murmur were heard along the left sternal border. P2 was thought to be greater than A2• Her liver was enlarged and pulsatile, and there was peripheral edema as well as marked club• bing. The spleen was enlarged. Venous pressure was 270 and circulation time was 15 sec. In the hospital, her congestive failure progressed, and she developed cyanosis. A thoracentesis was carried out on the right side, but she continued to develop fluid in both pleural cavities as well as ascites. Her BUN during this hospitalization was 80. She died on January 21, 1960, 71 days after operation.

Catheterization Studies 28 Apr 58 Pulmonary artery pressure, 5/2 mm Hg Right ventricular pressure, 80/3 mm Hg Right atrial pressure, 5/0 mm Hg

Autopsy Diagnosis Tetralogy of Fallot; interventricular septal defect partially obliterated by arti• ficial patch (Ivalon sponge); widening of infundibulum of right ventricle by artificial patch (Teflon); dextroposition of aorta; surgical division of pulmonic valve cusp; Case Descriptions 191 bicuspid pulmonic valve; right ventricular hypertrophy and dilatation; rupture of chordae of septal leaflet of tricuspid valve; right auricular hypertrophy and dilata• tion; chronic pericarditis; pleural effusion and ascites; passive congestion of viscera; splenomegaly; hepatic infarction.

Case 53 (AI4616, 18 days, 4 Feb 60)

Clinical History The child was born in the GNHCH on January 17, 1960. The birth weight was 6 lb 13 oz. Rapid respirations were noted in the hospital. A chest film revealed 5-10% spontaneous pneumothorax; however, the child's respirations improved and he was discharged. At home the child did not do well and appeared quite sleepy and did not feed well. Because of this, he was admitted to the hospital at age 8 days. The physical examination revealed a newborn male infant sleeping quietly and breathing without retractions. Physical examination revealed the lungs to be clear to per• cussion and auscultation. Examination of the heart revealed no increase in size; no murmurs or thrills were noted. The liver was palpable for I FB below the costal margin, and the rest of the physical examination was within normal limits. Labora• tory work likewise was within normal limits. The day following admission to the hospital, the child was noted to have progressive respiratory difficulty with increas• ing cyanosis. The pulse rate increased to 160, and a soft murmur was noted along the left sternal border. An electrocardiogram showed left ventricular hypertrophy. Digitalization was begun, and he was placed in oxygen of high humidity. Arterial saturation studies on February 3, 1960, revealed a 70% right-to-Ieft shunt with arterial oxygen saturation of 55% while breathing 100% oxygen and a hemoglobin of 12 g. It was thought that the child was relatively anemic so he was transfused. However, on February 4, the following day, the child became extremely cyanotic. Despite the usual resuscitative measures he expired.

Autopsy Diagnosis Common ventricle and transposition of the great vessels; slight coarctation of aorta; patent ductus arteriosus; severe congestion of lungs and liver.

Case54 (AI4639, 3 months, II Feb 60)

Clinical History This 3-month-old white male entered GNHCH for the first time on November 20, 1959 at age 10 days because of cyanosis. He was the product of a fulI-term uncomplicated pregnancy. The child's color was dusky and an X ray revealed dex• trocardia. Barium studies revealed a normal esophagus and a stomach in the upper right quadrant with the liver palpable on the left. EKG was consistent with dex• trocardia and situs iniversus. The cyanosis increased. PE on admission revealed a T of 98.6°, P of 160, and R of 40. Harsh breath sounds were present in the lungs. The PMI was in the right midclavicular line. No

murmurs were heard. P2 was equal to A2 • Peripheral pulses were strong. Lab data included a Hb of 20.2, Hct of 655, and WBC of 19.550. 192 Case Descriptions

X rays showed a "corensabat" heart with dextrocardia. The main pulmonary artery segment was either hypoplastic or absent. The aortic segment was wide. Pulmonary vascular markings were decreased. Arterial puncture reveaded a right-to• left shunt of 80% of systemic venous return. During this hospital stay the patient had thrush and later urinary tract infection, both responding immediately to therapy. This patient was admitted for the second time on February 7, 1960 for irritability and shortness of breath of 2-days duration. PE revealed a cyanotic male with P of 180, R of 60, and T of 101°. Tonsillar pillars were injected. Lungs were clear. Right border of cardiac dullness (RBCD) was at the right mid-axillary line (RMAL). A soft blowing murmur was present at the left sternal border (LSB). The liver was down 3 cm below the right costal margin. A trace of edema was present in both feet. Lab data included a Hb of 14.3, Hct of 54, and WBC of 21,500. EKG showed a true dextrocardia with anterior chamber hypertrophy. On the third hospital day, following a large quaiac positive stool, dyspnea set in, and despite therapy, respira• tion ceased several hours later.

Autopsy Diagnosis Situs inversus with dextrocardia; cor triloculare biatriatum; patent foramen ovale; septum primum defect with common A V valve; transposed aorta with atresia of pulmonary artery; left-sided superior vena cava; anomalous pulmonary artery; left-sided superior vena cava; anomalous pulmonary venous drainage into left-sided atrium via remnant of right-sided superior vena cava, right innominate vein and left• sided superior vena cava; symmetry of lungs and liver; fused adrenals; absence of spleen; malrotation of small and large intestine; multiple subependymal venous thromboses; hemorrhagic infarction of subependymal tissue and left and right thalamus.

Case 55 (AI4665, 2 days, 23 Feb 60)

Clinical History This 2-day-old white male was born at full-term of an uncomplicated pregnancy on February 20, 1960. PE at birth was within normal limits. Cyanosis appeared at 16 hr of life. R were 80 and P was 40. A loud, blowing systolic murmur was heard over the entire precordium, loudest at the base on the left and along the left sternal border at the second and third intercostal space, radiating to the back. p. was louder than A2 . At this time the liver edge was not palpable. In the morning of February 21, 1960, R increased to 110. P was 162 and the liver edge was down 2 cm. PE revealed a cyanotic infant with a Grade II thrill pal• pated over the precordium. Heart rate was now 210 and regular with a harsh, Grade III systolic murmur loudest at the apex, transmitted over the entire precordium. Liver edge was now down 3 cm. Lab data included Hb of 17.5, WBC of 18,700, and 2+ albuminuria. X ray showed clear lung fields, undeterminate heart size, and large liver. On February 21, 1960 the child was prophylactically digitalized. Marked tremulousness and spon• taneous clonus appeared. These disappeared after administration of intravenous cal- Case D~riptions 193 cium gluconate. In the early morning of February 22, 1960, the respiratory rate decreased sharply. Liver edge descended to 5 cm and the heart rate was 116. Respiration ceased. The patient was pronounced dead IS min later.

Autopsy Diagnosis Aortic atresia; hypoplastic aorta; right auricular dilatation; right ventricular hypertrophy and dilatation; fibroelastosis of left rudimentary ventricle; pulmonary artery hyperplasia with large patent ductus arteriosus; patent foramen ovale; conges• tion of viscera.

Case 56 (AI4703, 12 years. \0 Mar 60)

Clinical History This 12-year-old white male was admitted on February 28, 1960, for open heart surgery. He had had multiple previous admissions to GNHGH for workup of his congenital heart disease and for episodes of pneumonitis and atelectasis primarily involving the left lower lobe. He was the product of a full-term spontaneous delivery. He had a weak cry at birth requiring oxygen resuscitation, but there was no known history of cyanosis or respiratory distress. At the age of 6 months a cardiac murmur was noted. The patient was followed in the cardiology clinic. Cardiac catheterization and angiocar• diography on two occasions revealed findings compatible with pulmonic stenosis. He was admitted in June, 1959. because of atelectasis of the left lower lobe and basal segments of the left upper lobe with herniation of the right lung into the mediastinum and a mediastinal shift to the left. He responded to therapy without surgical intervention. Angiography at this time revealed a valvular pulmonic stenosis without a jet into the pulmonary artery. There was also marked post stenotic dilata• tion of the pulmonary arteries which was thought to be the cause of the atelectasis. Oxygen saturations in July. 1959 showed borderline low normal values with the patient breathing air and 100% oxygen at rest, but his saturation fell to 87% with exercise. PE on his last admission revealed a BP of 140/80, R of 23, and P of 92. There was prominence of the left chest over the precordial region. The lungs revealed decreased fremitus and breath at the left base. A palpable systolic thrill was present over the sternum and the left clavicle. It was most prominent along the left sternal border in the second intercostal space. A Grade IV systolic murmur was present at the pulmonic area radiating to the left. A Grade I diastolic murmur was present at the left sternal border. The liver was I cm below the costal margin. No cyanosis was evident. On March 8, 1960. cardiotomy was performed. and the pulmonic valve was incised. A large patch was then placed in the ventricular outflow tract of the right side following excision of the hypertrophied crista supraventricularis. The procedure lasted 9 hr and 2 min, with 2 hr and 56 minutes being on total perfusion. The patient underwent four separate perfusions during this period. Postoperatively the patient had considerable difficulty with acidosis registering a pH of 6.95 shortly after coming off the pump and then increasing to only 7.04 at 11/2 hr after perfusion. 194 Case Descriptions

The patient's plasma Hb at this time was 192 g/100 ml. The patient died 30 hr after the operative procedure.

Catheterization Studies

16 Dec 47 Aneurysm pressure, 50 cm H20

25 Apr 49 Pulmonary artery pressure, 34 cm H20 2 Feb 53 Right ventricular pressure (outflow tract), 40 mm Hg

Autopsy Diagnosis Pulmonic stenosis; interventricular septal defect; right ventricular hypertrophy; pulmonary congestion and edema; acute tubular necrosis; focal hemorrhage of small intestine; cerebral congestion; petechial, hemorrhages and regressive changes in the Purkinje cells and oligodendroglia.

Case 57 (AI4715, 18 years, 16 Mar 60)

Clinical History The patient was admitted on March I, 1960, for the fifth time to GNHCH for open heart surgery. He had been followed in this clinic since the age of 6 and had been noted to be cyanotic since birth with decrease in exercise tolerance. He also had shortness of breath and dyspnea on exertion. He was admitted in November, 1947, for surgery. At that time, a Blalock procedare was attempted, and the right pulmonary artery was found to be quite small; the anastomosis between the sub• clavian and right pulmonary artery was not considered to be adequate. He was readmitted again at age 8, and cardiac catheterization reportedly was compatible with Eisenmenger complex which did not correlate with the findings at surgery. An attempt was made at angiocardiography, and this was unsuccessful. He was read• mitted at the age of 17, and angiography revealed a marked aortic over-riding and suggestion of infundibular pulmonic stenosis, findings which were compatible with a tetralogy of Fallot. Since that time he remained cyanotic, and his exercise tolerance remained approximately the same. He had had frequent upper respiratory infections. PE on admission showed a BP of 114/74, P of 110 and regular. He was described as being an obese, physically immature, white male with a high, squeaky feminine voice. He was alert and cyanotic. Clubbing of the fingers and toes was present. A healed thoracotomy incision was present on the right side. There was no thrill. There was cardiomegaly to the anterior axillary line on the left. There was a loud systolic murmur over the entire precordium, heard best in the third interspace and radiated to the neck. The pulmonic first sound was replaced by the murmur. Femoral pulses were described as good. Angiocardiography had revealed an adequate left pulmonary artery and infun• dibular stenosis. Cardiopulmonary bypass was performed. The patient was under anesthesia for 19 hr and on complete bypass for 4 hr. A patch was placed in the IVSD and the pulmonary outflow tract was widened. Postoperatively the patient was hypotensive and bleeding. He expired 8 hr later. Case Descriptions 195

Catheterization Studies II May 50 Right ventricular pressure, 81/48 mm Hg Pulmonary artery pressure, 22/17 mm Hg

Autopsy Diagnosis Tetralogy of Fallot; pulmonary congestion and edema; congestion of viscera.

Case58 (AI4728, 5 1/2 years, 22 Mar 60)

Clinical History This 51!2-year-old white male was brought to the ER dead on arrival. On the evening prior to his demise, he was given a smallpox vaccination. On retiring he seemed to be sweating excessively. He then arose twice to urinate. Later he was found unresponsive in his bed and had expired.

Autopsy Diagnosis Muscular hypertrophy and hyperplasia of pulmonary arteries; marked right ventricular hypertrophy and dilatation; hepatosplenomegaly; acute passive conges• tion of viscera.

Case 59 (A 14731,6 years. 23 Mar 60)

Clinical History This 6-year-old white male was admitted to GNHCH on March 17, 1960, for corrective cardiosurgery. He was the product of a full-term normal delivery with a murmur being noted at birth. He had been followed in the cardiac clinic since 1957. EKG showed progressively increasing right ventricular hypertrophy and pattern; X rays confirmed this. They also demonstrated consistently decreased pulmonary vasculature and enlarged pulmonary conus. PE on admission in 1959 revealed P of 96-120, R of 18, and BP of 110170 in both arms and legs. No cyanosis was noted. Lungs were clear. PMI suggested right ventricular thrust. A loud. coarse Grade IV systolic murmur was heard throughout, best in the second and third interspace along the left sternal border. P2 was not heard and A2 was diminished. Liver was not palpated. Lab data included a Hb of 17.5 and Hct of 59. On September 17. 1959. catheterization and angiography were performed. Right ventricular hypertension and pulmonary valvular stenosis were noted. A shunt from right-to-left was demonstrated at the atrial level. PE on admission on March 17 was essentially unchanged. On March 22 a pulmonary valvulotomy with resection of infundibular stenosis and repair of an IASD were performed. Postoperatively the patient had a complete right bundle branch block, and his BP had to be maintained by vasopressors. Respiratory distress appeared, and about 10 hr postoperatively the blood pressure could no longer be maintained. 196 Case Descriptions

Catheterization Studies 17 Sep 59 Right atrial pressure, 8 mm Hg (mean) and 15 mm Hg ("a" wave) Right ventricular pressure, 202-267/1-10 mm Hg (apex) and 189-202/5-8 mm Hg (infundibulum) Pulmonary artery pressure, 9 mm Hg (mean) Femoral artery pressure, 125/72 mm Hg (air) and 128-144/82-96

mm Hg (100% O2)

Autopsy Diagnosis Pulmonic valvular stenosis; severe right ventricular hypertrophy; patent foramen ovale obliterated by surgical suture; absence of portion of tricuspid valve cusp; absence of portion of right ventricular infundibulum and widening of infundi• bulum by Teflon patch; surgical division of pulmonic valve cusp; chronic and acute passive congestion of viscera; fatty metamorphosis of liver.

Case 60 (A 14753, 21/2 months, 4 Apr 60)

Clinical History This IO-week-old male infant was transferred from Bridgeport Hospital on Feb• ruary 29, 1960 for evaluation of his congenital heart condition. He was born on January 20, 1960, after a breech single footling delivery. Syndactylism of the right ring and middle fingers was noted. By February 6 a Grade III systolic murmur was heard at the apex, and the heart sounds were described as pounding. On February II the liver size had increased and digoxin was given. On admission to GNHCH his BP was 80-85, P of 156, and R of 100. Fine moist rales were heard at the left lung base. A Grade III harsh continuous murmur was heard over the entire precordium and back. P2 was greater than A2• The liver edge was 1.5 cm below the costal margin. A spleen tip was felt. Lab data included a Hct of 39% and a WBC of 8500. EKG showed sinus tachycardia with combined ven• tricular predominance. X rays showed a globular heart with engorgement and congestion of the pulmonary vessels.

On March 14 he started to have labored respirations with a CO2 of 36.6. X rays showed opacification of two-thirds of the left hemithorax. Bronchoscopy was unsuc• cessfully attempted, but his atelectasis disappeared. Angiography revealed a large pulmonary artery with reversed blood flow through the ductus to the distal aorta. On March 28. left subclavian-thoracic aorta anastomosis and division of the patent ductus were performed. X rays on March 29 showed atelectasis and fluid in the lower lung. After operation he had respiratory difficulties and also with water and electrolyte balance. He expired on April 4.

Autopsy Diagnosis Preductal coarctation of aorta; subclavian-thoracic aorta anastomosis and divi• sion of patent ductus arteriosus; cardiomegaly; dilated pulmonary artery; interven• tricular septal defect; probe patent foramen ovale; pulmonary congestion and ate• lectasis. Case Descriptions 197

Case 61 (A 14672,6 months, 10 Apr 60)

Clinical History The child was a product of a normal full-term spontaneous delivery. He was noted to be cyanotic immediately after birth and continued to be cyanotic throughout the entire course. He was followed through the first few months in Sharon, Connecticut, and then referred to GNHCH for evaluation. X rays revealed dextrocardia without situs inversus, and an electrocardiogram showed a first-degree heart block. A cineangiography was done which revealed tricuspid atresia. No catheterization was performed. Because of his worsened condition, at age 6 months he was explored. At that time an attempt to anastomose the main pulmonary artery to the right atrium not using hyperthermia, but cardiopulmonary bypass was done. The child died shortly after the surgical procedure.

Autopsy Diagnosis Transposition of great vessels; tricuspid atresia; interventricular septal defect; interatrial septal defect; hypoplastic pulmonary artery; partial ball valve obstruction of pulmonary outflow tract by redundant valvular tissue; pulmonary congestion and atelectasis; congestion of viscera.

Case 62 (A 14869, 3 1/2 years, 4 Jun 60)

Clinical History This 3 1/2-year-old white female was discharged from the hospital about 2 weeks prior to her demise. She had been in the hospital for cardiac surgery. She was a known congenital cardiac with transposition of the great vessels. She had been in borderline cardiac compensation, and apparently on the day of her demise she sud• denly experienced severe chest pain at home and expired shortly thereafter. The child was a product of a normal full-term spontaneous delivery and was noted to be cyanotic at 6 hr of age. There was intermittent cyanosis during the 1st year of life, and then cyanosis became constant. She was first seen in the cardiac clinic on June 20, 1957. Over the interim period she had several attempts at cardiac catheterization and angiography. Summation of the data pointed to the fact that the child probably had a transposition of the great vessels with an interatrial septal defect. It was also thought by the cardiologist that the child had either an interven• tricular septal defect or a single ventricle. Her difficulties had increased over the interim until April, 1960 when she was admitted with the thought of anastomosing the SVC to the right pulmonary artery in an attempt to alleviate some of her desatu• ration. Following the usual diagnostic workup she was subjected to the operation on April 22, at which time it was found that the pulmonary arterial pressure was too high to anastomose the SVC to the right pulmonary artery. Therefore, a Teflon band was placed around the pulmonary artery evvectively reducing its lumen by about 50%. Postoperatively the patient's course was stormy, but she was finally dis• charged on May 20. She was seen 2 days later and appeared to be doing well. PE on May 23 revealed R of 44. BP of 110/70, and P of 140. The heart was 198 Case Descriptions described as being large with a thrill palpable along the left sternal border of a Grade III-IV rough systolic murmur heard in the same region. Lungs were clear at this time, but the liver edge was 3-4 cm below the costal margin. She was being continued on digitoxin at the time of her demise.

Catheterization Studies 4 Dec 58 Right ventricular pressure, 78-82/0-4 mm Hg Pulmonary artery pressure, 72-82/44-49 mm Hg Femoral artery pressure, 72-78/49-55 mm Hg

Autopsy Diagnosis Transposition of great vessels with interatrial septal defect; left ventricular hypertrophy; dilation of pulmonary artery with constricting Teflon band on pulmonary artery; pulmonary congestion and edema; recent cerebral cortical infarct; right ventricular hypertrophy and dilatation; congestion of viscera.

Case 63 (A 14967, 3 months, 26 Jul 60)

Clinical History This 3-month-old white female was admitted to GNHCH on June 14, 1960 at 2 months of age for respiratory distress and abdominal mass. The patient was the product of a full-term uncomplicated pregnancy. She did well until 1 week prior to admission when labored respirations with retractions of the subcostal regions ensued. Her appetite declined during the 3 days prior to admission. PE revealed T of 98.6°, P of 144, R of 72 with retractions, and BP of 90/50. She was cyanotic and showed retractions with splinting of the left chest. Decreased breath sounds were present over the left chest, and rales were heard over the right chest. A Grade [ systolic murmur was heard along the left sternal border. A soft liver edge was 5 cm below the costal margin. The left kidney was thought to be contiguous with a cystic mass felt to the left of the midline. Lab data included a Hb of 12.3, Hct of 37, and WBC of 13,500. One week after admission WBC rose to 23,500 and then dropped to 10,700. BUN on admission was 22 falling to 15 four weeks later. Electrolytes were normal on admission and 4 weeks later showed a CO2 of 47.3, CI of 81, Na of 144, K of 4.9, and a pH of7.18. Repeat throat cultures grew out Staphylococcus aureus. Chest film revealed generalized cardiac enlargement with increased bronchovascular markings and increased pulmonary vasculature. Bronchiolitis was also demonstrated. Repeat films showed "cystic" disease of the right lung 2 weeks later. EKG revealed marked right ven• tricular hypertrophy, right-axis deviation, right auricular enlargement and some myocardial damage suggested by large Ts in V-6. Digitalis and antibiotic therapy were started. Mycostatin was started on the 4th day when thrush appeared. Despite therapy, her cyanosis increased, and then apneic spells appeared. The patient expired on the 42nd day.

Autopsy Diagnosis Patent ductus arteriosus; patent foramen ovale. Case Descriptions 199

Case 64 (AI4986, 12 years, I Aug 60) Clinical History This 12-year-old white female weighed 4 lb 12 oz at birth. She did well until 6 months of age when she was hospitalized here (1948) for diarrhea and asthma. Dur• ing the hospital stay she was found to have bronchopneumonia and heart failure of unknown etiology. A loud systolic murmur led to the consideration of an ASD or IVSD. She was digitalized, discharged, and followed in the Cardiac Clinic. She continued to develop poorly, had frequent upper respiratory infections, and in 1952 sustained a greenstick fracture of the radius and ulna. EKG in clinic revealed right-axis deviation and right ventricular hypertrophy. In February, 1955 she had right heart catheterization. This showed an arterial blood pressure of 118.5/72.5

(FA) and a PA pressure of 108/53. O2 saturations revealed no right-to-left shunt; however, the saturation did markedly increase from the right atrium to the right ventricle. The impression then was an IVSD with marked pulmonary hypertension. No evidence of an ASD was present. Angiography at this time revealed the IVSD to be located in the superior portion of the septum. Again the child was digitalized. In 1958 she was admitted for lobar pneumonia. Penicillin therapy gave immediate improvement. In July, 1959, arterial saturation studies were performed. These were normal at rest and on exercise and no right-to-Ieft shunt could be demonstrated. She was next admitted here on June 2 for elective surgery. On June 28 a Teflon patch repair of the IVSD was carried out. Postoperatively the patient did quite well and was discharged on July 23. One week later (August 1) the patient appeared in the ER following an auto accident and died several hours later after sustaining severe cerebral injury.

Catheterization Studies Feb 55 Pulmonary artery pressure, 108/53 mm Hg Femoral artery pressure, 118/73 mm Hg

Autopsy Diagnosis Massive subdural and subarachnoid hemorrhages; marked cerebrovascular congestion with associated hemorrhages in the thalamus, basal ganglia, cerebrum and pons; bilateral complete midshaft, closed fractures of femur; lacerations of both knees and forehead; terminal aspiration of blood and gastric contents. Interventricular septal defect of membranous septum, completely closed by Teflon sponge; hypertrophy of right atrium and ventricle; slight congestion of lungs in macrophages; slight congestion of liver with periportal fibrosis and polymor• phonuclear infiltrate; developmental retardation.

Case 65 (AI5180, IO days, 19 Oct 60)

Clinical History This IO-day-old white male was admitted on the 2nd day of life (October II, 1960) because of cyanosis shortly after birth. The pregnancy was full-term and uneventful. 200 Case Descriptions

PE on admission showed cyanosis of the hands and feet. Aeration was good bilaterally. P 2 was greater than A2 and no murmurs were heard. A liver edge was 1 cm below the costal margin. One hundred percent O2 improved the color of the skin. Lab data included a Hb of 20.7, Hct of 55, and WBC of 3250. Urinalysis was within normal limits. On October 13 a total bilirubin was 10.4. EKG showed peaking of the P waves.

The patient was placed in O2 and digitalized. Chest film showed a boot-shaped heart and minimal pulmonary vascular markings. On October 19 apneic periods became more frequent and the patient failed to respond to positive pressure O2,

Autopsy Diagnosis Atretic pulmonary valve with hypoplastic right ventricle; small pulmonary artery; dilated right atrium; patent foramen ovale; dilated left atrium, dilated and hypertrophied left ventricle; enlarged aorta; small patent ductus arteriosus; conges• tion and atelectasis of lungs.

Case 66 (A 15230, 4 years. 6 Nov 60)

Clinical History This 3-year, IO-month-old white female entered on October 31,1960, for cardiac catheterization. The patient was the product of a normal pregnancy and was born 6 weeks premature weighing 5 Ib 6 oz. A cardiac murmur was present at birth; cyanosis also appeared. Development was slow and she did not walk until 2 V2 years of age. The patient was referred here in July, 1958. The impression then was pulmonic stenosis, right ventricular hypertrophy, IVSD with right-to-Ieft shunt, and right aortic arch. P was 124, with a Hb of 18.4 and Hct of 58. An EKG was sent from North Carolina in the summer of 1960. This revealed com plete A V dissociation with a pulse of 40-50. PE on admission revealed P of 44, R of 32, BP of 120170, and T of 100°. She was cyanotic in the periorbital and circumoral regions. Lungs were clear. Heart was enlarged to the AAL. A thrill was palpable over the entire precordium. The apical rate was 44. A Grade IV harsh, blowing pansystolic murmur was noted, heard best over the pulmonic area but also over the entire precordium radiating to the axilla and back. A loud nonsplit P2 was greater than A2. The liver was 2 cm below the costal margin. Peripheral pulses were good. Moderate clubbing of the fingers and toes were present. Lab data included Hb of 19, Hct of 67, and WBC of 5700. Isuprel was used to elevate the pulse from 44 to 60. On November 3 angiography demonstrated a large right-to-left shunt at the atrial level and a large IVC apparently communicating with both atria. Arterial saturations indicated a 60% right-to-Ieft shunt. Three days later (November 6) the patient was found in respiratory distress, and cessation of such occurred a few minutes later.

Autopsy Diagnosis Atresia of tricuspid valve of heart with atrial and ventricular septal defects; stenosis of pulmonary valve; transposition of great vessels; pulmonary congestion and edema; congestion of viscera. Case Descriptions 201

Case 67 (AI5286, 12 years, 28 Nov 60)

Clinical History This 12-year-old white male had been followed since birth because of the presence of a heart murmur. Cardiac catheterization was performed on March 24, 1960, and revealed the presence of a ventricular septal defect and pulmonary hypertension with a pressure of 110/24 in the right pulmonary artery. It was then concluded that an IVSD was present with severe pulmonary hypertension, a moderate increase in pulmonary flow and increased total pulmonary resistance. There was evidence of minimal right-sided failure and some question as to whether or not there was a right-to-Ieft shunt at the ventricular level because of femoral artery saturation ranging from 92 to 94 when the child was breathing air at rest. PE on admission on N ovem ber 20 for surgical correction showed a P of 95, and BP of 110/70. Cardiac enlargement was evident with the apex present in the nipple line. Pa was very strong and loud with a Grade IV intensity. A2 was of moderate intensity. A Grade II systolic murmur, harsh and low-pitched with a blowing quality, was heard along the left sternal border. This was transmitted to the pos• terior region. EKG showed a rate of 95/min, a P-R interval of O. 13, a balanced axis, incomplete RBBB and right ventricular predominance. On November 25 surgical repair of the IVSD was carried out while on total perfusion. Postoperatively the patient did relatively well until the 3rd day, at which time cardiac arrest occurred. Despite resuscitative attempts the patient expired on November 28.

Catheterization Studies 24 Mar 60 Right atrial pressure, 5-6 mm Hg (mean) Right ventricular pressure (inflow tract), 108-116/8-12 mm Hg Right ventricular pressure (outflow tract), 104-112/10-18 mm Hg Pulmonary artery pressure, 109-112/46-54 mm Hg Femoral artery pressure, 112-118/64-70 mm Hg

Autopsy Diagnosis Interventricular septal defect repaired with Teflon patch; biventricular hypertrophy and dilatation; marked severe congestion of lungs with atelectasis; perforation of anterior trachea; incision of anterior chest wall; incision of left chest wall.

Case 68 (A15306, I month, 6 Dec 60)

Clinical History The child was admitted on December 5, 1960 (3 weeks old), having been born November 14, 1960. The child was a product of an uneventful pregnancy, full-term spontaneous delivery. Birth weight was 6 Ib 8 oz. He was noted to be cyanotic at I day of life and did poorly. The child stayed in the hospital until November 30 and was seen by a pediatrician in Bridgeport who referred the child to New Haven. Positive physical findings included an enlarged heart with a parasternal thrill. A Grade III harsh systolic murmur was heard best along the left sternal border in the 202 Case Descriptions third and fourth intercostal space. The patient also had an enlarged liver. The child underwent cardiac workup which included X rays. These revealed an enlarged heart and prominent pulmonary vascular markings. The impression was truncus or transposition. An electrocardiogram revealed a right ventricular pattern. The child had cineangiography performed and showed transposition of the great vessels and an atrial septal defect. In addition, arterial satu• rations were performed which showed on one occasion 27% saturation and 30-42% with the air oximetry. The hemoglobin was 16.6; hematocrit was 54. At age 17 days, following workup the child was subjected to a so-called Senning procedure, and this technically went very well. However, as an attempt was made to get the child off perfusion, cardiac arrest occurred. The patient did not respond to the usual measures.

Autopsy Diagnosis Transposition of great vessels with interatrial septal defect; pulmonary conges• tion and edema; fatty change of liver.

Case 69 (AI5406. 38 years, 13 Jan 61)

Clinical History This 38-year-old white married housewife was admitted to the cardiovascular surgical service on January 5, 1961, with a chief complaint of severe dyspnea on exertion for intended surgical correction of infundibular stenosis of the right ven• tricular outflow tract. Scoliosis of the spine had been noted at the age of 3 along with a cardiac murmur. The patient never experienced cyanosis and never squatted. However, she became tired more easily than children of her own age and had to rest frequently. At no time did she have symptoms of joint pains, swelling or other signs of rheumatic fever. The patient did well until 1955 when dyspnea on exertion set in. Several years prior to this, cardiomegaly had been noted on annual chest films. She was first admitted here on December 11, 1955. PE revealed a PMI in the fifth intercostal space at the anterior axillary line. An apical systolic thrill was felt. A Grade III apical systolic murmur radiated to the axilla. p. was absent; however P, was loud and snapping. Right heart catheterization on December 12 revealed an R V pressure of 100/6 and a PA pressure of 13/2. FA pressure was 150/72. Angiography suggested an IASD. The second admission was on March 18. PE revealed the same findings. Brom• sulphalein (BSP) retention was 20% and attributed to chronic passive congestion. On April 5 the patient underwent transarterial pulmonary valvulotomy. Postoperatively she had paroxysmal atrial tachycardia (PAT) with block after digitalization which responded to quinidine. The patient did well until 1957 when right-sided failure ensued. An EKG showed right ventricular hypertrophy. On June 12 cardiac catheterization revealed a R V pressure of 78/0 and a PA pressure of 7/2. Case Descriptions 203

In 1959 a pigmented lesion overlying the left scapula was biopsied and read as malignant melanoma; however, no positive nodes were noted on wide dissection. The patient was admitted here for the third time on October 23, 1960. Cardiomegaly was present along with a left parasternal thrill. A Grade IV systolic murmur was heard in the pulmonic region. p. was absent. Liver and spleen were not felt. No cyanosis, clubbing, or edema were present. Cardiac catheterization revealed an RV pressure of 121/8 and a PA pressure of 13/7. Angiography demonstrated infundibular stenosis. The fourth and last admission was on January 5, 1961, for resection of the infundibular stenosis. PE included a BP of 120/60, P of 98, and R of 20. The PMI was in the anterior axillary line. A thrill was palpable in the upper third of the left sternal border. A. and P2 were not heard at the apex. A Grade IV systolic murmur was heard in the left second and third intercostal spaces. The liver edge was down one FB. No lymphadenopathy was noted. Lab data of interest included: circulation time (CT), 24 sec; venous pressure

(VP), 250 mm H 20; negative urine melanin and metastatic series. On January 12 resection of the infundibular stenosis was carried out on open heart bypass. Total perfusion time was 3 hr. Postoperatively the patient had serosan• guinous drainage from the right pleural cavity. EKG patterns altered between nodal and sinus rhythms. Gradually the BP declined and open massage was attempted. At this time about I liter of clotted blood was present in the pericardial sac. The patient expired 9 hr after the end of the operative procedure.

Catheterization Studies 13 Dec 55 Right atrial pressure, 6/4 mm Hg Right ventricular pressure, 106!7 mm Hg Pulmonary artery pressure, 13/2 mm Hg Femoral artery pressure, 150/72 mm Hg 12 Jun 57 Right atrial pressure, 2/0 mm Hg Right ventricular pressure, 78/0 mm Hg Pulmonary artery pressure, 7/2 mm Hg Femoral artery pressure, 140/60 mm Hg 24 Oct 60 Right atrial pressure, 5/2 mm Hg Right ventricular pressure, 121/8 mm Hg Pulmonary artery pressure, 13!7 mm Hg Femoral artery pressure, 137/62 mm Hg

Autopsy Diagnosis Subinfundibular stenosis; hypertrophied crista supraventricularis and split-fused pulmonic valve; right ventricular hypertrophy and dilatation; right auricular dilata• tion; distorted aortic valve with regurgitation plaques; left ventricular hypertrophy; hemopericardium. Metastatic malignant melanoma in nodes, adrenals, ovaries, bowel, and pancreas. 204 Case Descriptions

Case 70 (AI5427, 2 years, 21 Jan 61)

Clinical History This 2-year-old white female was admitted for the third and last time on January 5, 1961. She was first admitted to GNHCH on January 19, 1960, at the age of I year. Over the previous 5 months she had five episodes of dyspnea and wheezing which had been treated with antibiotics. The child had labored respirations, coughs, fever, but never any cyanosis or anoxic spells. At that time she had a P of 130, weight of 17 lb II oz, and a BP of 110/40-50. Major findings included diminished breath sounds in the left lower chest posteriorly, tachycardia of 130, a harsh Grade III thrill at the left third to fourth intercostal spaces, associated with a murmur, sys• tolic in time. The murmur was well transmitted to the back and could be heard in both paravertebral areas. P2 was moderately intense. The apex was in the fifth inter• costal space, 2.5 cm to the left of the nipple line. The femoral pulses were normal. No cyanosis or edema was noted and the liver was down 3 cm. An EKG showed a balanced axis, a P-R interval of 0.13 sec and normal precordials. There was a P mitrale in lead 2 and inverted P in VI. Fluoroscopy revealed cardiac rotation, enlargement of the left ventricle and possibly of the left atrium. Bronchoscopy on February 10 showed atelectasis of the left lower lobe probably secondary to compression of the bronchus by an enlarged left atrium. Arterial saturations on Feb• ruary 10 demonstrated no right-to-left shunt. On February 16 angiography revealed an IASD and an IVSD. The large size of the left atrium and ventricle was attributed to mitral insufficiency. The second admission was in June, 1960, for bronchiolitis which responded to antibiotic therapy. On her last admission she exhibited grunting respirations at 32-40 with a P of 99-124. Examination of the chest revealed a left precordial bulge with moderate intercostal and suprasternal retractions. Dullness to percussion was present at the left base. A harsh systolic murmur was heard best at the apex and all over the pre• cordium. A slight thrill was present at the apex and a low-pitched middiastolic murmur was in the precordial area. P2 was moderately intense. The liver was 3 cm below the costal margin. No peripheral edema was noted. X rays showed a complete lack of left cardiac border due to condensation of the lung. Increased vascular mark• ings were present on the right side. On January 20 the patient was subjected to total perfusion, and a mitral valvuloplasty was attempted. Postoperatively the patient did not do well and expired 8 hr after surgery.

Autopsy Diagnosis Anomalous origin of left coronary artery from pulmonary artery; diffuse endocardial fibrosis; focal myocardial fibrosis; thickening of mitral valve cusps with shortening of chordae tendinae; left and right ventricular hypertrophy; left atrial dilatation; atelectasis of left lung; pleural effusions; pulmonary edema and conges• tion; congestion of viscera; valvuloplasty of mitral valve. Case Descriptions 205

Case 71 (AI5481, 6 months, 14 Feb 61)

Clinical History This was the first admission of a 6-month-old Negro female child transferred to GNHCH from St. Mary's Hospital with a chief complaint of congenital heart disease. The child was apparently noted to have a murmur at birth but this was not investigated at that time. She was apparently asymptomatic, but feeding was poor, weight gain was poor, and development was slow. Family history revealed that a 9- year-old sister had a "twisted-around heart" and was very small in size. Three days prior to admission the patient became fussy and irritable and began to breath heavily. She was placed in oxygen at St. Mary's Hospital, but no other treatments or medications were administered prior to transfer here for a diagnostic workup.

Physical examination revealed a T of 98.1 0, P of 132, and R of 52. Weight was II Ib 4 oz. The child presented as a small Negro female with obvious cyanosis and tachypnea but no acute distress. The head appeared to be elongated. Lungs were clear except for slightly decreased breath sounds over the left lower lobe (LLL) pos• teriorly. The heart was enlarged on percussion to the anterior axillary line on the left and extended beyond the sternum on the right. The PMI was noted over the fifth intercostal space at the left sternal border. There was a Grade I-II systolic, harsh rasping murmur heard best in the fifth intercostal space at the left sternal border. The heart sounds were more prominent at the right side of the sternum than would be expected. The apical first sound was split but P2 was not split. The liver was pal• pable I cm below the right costal margin. Both kidneys were also readily palpable but were normal. Good femoral pulses were palpable. The remainder of the PE was within normal limits. Four views with barium were obtained and revealed marked cardiomegaly with dextrocardia. Lungs appeared to be undervascularized. There was a situs inversus with a right-sided stomach and a question of a left-sided liver. EKG showed a mirror image in lead I indicative of dextrocardia. There were findings suggestive of right ventricular hypertrophy and an incomplete right bundle branch block. Angiocar• diography (January 25, 1961) demonstrated cor triloculare with two superior vena cavae draining into two separate atria. There was a right-to-left shunt at the atrial level. Since there was evidence of ventricular filling without demonstrating pulmonary arteries, there was either pulmonic stenosis or pulmonic atresia. Follow• ing angiography, the child became unresponsive and showed flaccidity of both legs. Penicillin therapy was started and the child recovered in the next few days. On Feb• ruary 3, right-sided angiography was performed which revealed a right IVC draining into a chamber separate from the left IVe. A right-to-left shunt at the atrial level was also shown. On February 9 the child had a T of 100.4°, R of 55, and P of 150. Examination of the chest revealed coarse breath sounds bilaterally. The WBC was 23,000 with a shift to the left. X ray did not show evidence of a pneumonia. Penicillin therapy was started. On February 13, the child appeared to be doing well 206 Case Descriptions and plans for discharge were made. At 10:30 p.m. she was noted to be without respirations or heartbeat.

Autopsy Diagnosis Partial situs inversus with dextrocardia; ostium atrioventriculare communis; double and separate superior venae cavae emptying into right-sided and left-sided atria; pulmonary valvular atresia; hypoplasia of pulmonary artery; patent ductus arteriosus; right-sided pancreas, stomach, duodenum and spleen; pulmonary conges• tion and atelectasis; absence of left fallopian tube; congestion of viscera.

Case 72 (AI5502, I V2 years, 24 Feb 61)

Clinical History This patient was a 17-month-old white female who was admitted on February 21, 1961, for the fourth and last time to GNHCH with the chief complaint of a cough that had persisted for 5 days, tachypnea, and dyspnea and cyanosis of 12-hr duration. Admission to this hospital in May, 1960, included cardiac catheterization and angiography which revealed cyanotic heart disease with bidirectional shunts at the ventricular level and an outflow obstruction to the right ventricle. Since then the patient had chronic pyelonephritis, with a left nephrectomy being performed in Sep• tember, 1960. PE on the fourth admission indicated a P of 140, R of 50-60, and normal BP. Cyanosis was evident. Scattered coarse rhonchi and rales were heard in both sca• pular regions. A rough, parasternal thrust with a Grade II thrill was present along the left sternal border in the fourth intercostal space. A Grade III-IV parasystolic murmur was heard along the entire precordium. The liver edge was down 3 cm. Lab data included a Het of 43%. normal urinanalysis, and a WBC of 4550. Chest X ray revealed a persistent pneumonitis with a right upper lobe ate• lectasis. On the 2nd day the patient became tachypneic and more cyanotic. The liver edge descended to 4-5 cm below the costal margin, and the patient expired on Feb• ruary 23.

Catheterization Studies 31 May 60 Right atrial pressure, 8-12 mm Hg (a) and 5-7 mm Hg (mean) Right ventricular pressure (inflow tract), 96-104/8-12 mm Hg Right ventricular pressure (outflow tract), 132-144/8-12 mm Hg Left atrial pressure, 17-20 mm Hg (a) and 8-10 mm Hg (mean) Left ventricular pressure, 120-123/12-15 mm Hg

Autopsy Diagnosis Ostium atrioventriculare commune; persistent vein of Marshall; right aortic arch with anomalous left subclavian and anomalous ductus Botalli; surgical absence of left kidney. Case Descriptions 207

Case 73 (AI5521, 5 years, 4 Mar 61)

Clinical History This 5-year-old white male mongol was admitted for the first time on February 21, 1961 because of heart failure. The patient was diagnosed as a mongol at 6 months of age. Between 4 and 5 years of age the child had frequent colds, and such an episode occurred 12 days prior to admission. Despite penicillin therapy the child developed a cough and eventually cyanosis. On admission P was 160, Twas 98.2°, R was 32, and BP was 120/80. Slight peripheral cyanosis was present. The heart revealed a sinus tachycardia with a Grade IV systolic and diastolic to-and-fro harsh murmur heard all over the precordium and back, with the greatest intensity at the left sternal border and the second and third intercostal spaces. A palpable thrust was present at the apex, and a thrill was felt over the precordium. The liver was down 6 cm from the costal margin. Admission lab data included a Hb of 13, Hct of 38, WBC of 15,800, and normal urinalysis. Cardiac fluoroscopy revealed cardiomegaly with increased pulmonary vascular markings. Despite digitalization the liver edge remained down. On the 6th hospital day the child spiked a fever of 102.7°. The child remained febrile for the next 4 days at which time antibiotics were started. The child was found dead in bed on the following day

Autopsy Diagnosis Mongoloid facies; atrial and ventricular septal defects; dextroposition of the aorta; right and left ventricular and right atrial hypertrophy and dilatation; diffuse myocardial fibrosis; fibrinous pericarditis; chronic and acute passive congestion of the liver; acute fatty change in liver; splenomegaly; pulmonary edema.

Case 74 (AI5526, 3 months, 6 Mar 61) Clinical History This 3-month-old white female was admitted at 50 days of age to GNHCH on January 11, 1958, for evaluation of congenital heart disease. The child was the product of a normal pregnancy with some question of prematurity. A generalized duskiness persisted, and on December 3, 1960, she was digitalized by a private phy• sician because of a gallop rhythm along with a rate of 190. PE on admission showed a P of 160, R of 40, and T of 99.3°. The infant had

poor color out of O2• The head showed prominent frontal and parietal regions on the right. The eyes had small palpabral fissures with decreasing supraorbital ridges. Nares were obstructed. The lungs showed bilateral dullness and expiratory and inspiratory rhonchi. Rales were present at the left base. The heart was enlarged to the AAL. A Grade II-III early systolic murmur was heard best over the pulmonic area. The liver edge was down 2 cm. Hips did not fully abduct, and the fingers did not fully extend. Lab data included a Hb of 10.9, Hct of 29, and WBC of 23,000. Nose and throat cultures grew out Escherichia coli and a-strep. WBC dropped later to 9100. 208 Case Descriptions

Total proteins (TP) were 5.4 with an albumin of 3.2. CO2 varied from 45 to 30. X rays showed prominent pulmonary vascularity and hypoplexia of the left ileum. EKGs revealed large RA, L VH, R VH, and right-axis deviation. The patient fed poorly and had numerous apneic and cyanotic spells. On March 6, following such an episode, cardiac arrest appeared and no heart beat could be resumed.

Autopsy Diagnosis Interventricular septal defect (membranous); patent foramen ovale; patent ductus arteriosus; bicuspid pulmonic valve; cardiac hypertrophy; pulmonary conges• tion and atelectasis.

Case 75 (AI5545. I month, 15 Mar 61)

Clinical History This patient was transferred from Saint Raphael's Hospital on February 14, 1961 at 6 days of age because of persistent cyanosis since birth. The patient was the product of an uncomplicated full-term pregnancy in a 37-year-old gravida 8, para 7 woman. Cyanosis became pronounced at 40 hr of life and the child fed poorly. Chest film revealed coarse markings in the right lung. The liver edge was down I FB and the patient was digitalized. Lab work at HSR included a Hb of 18.5, Hct of 61, and WBC of 11,800. A repeat chest film on February 13 suggested transposition of the great vessels. PE on admission revealed a P of 160, R of 60, and T of 99.0°. The patient appeared cyanotic and jaundiced. The LBCD was I cm medial of the AAL. A Grade II harsh systolic murmur was heard best over the apex and at the LSB in the third and fourth intercostal spaces. A soft diastolic Grade I was present at the apex. Both murmurs radiated to the back and P2 was greater than A2• A liver edge was down 1 cm. Lab data included Hb of 17.3, Hct of 47, and WBC of 7850. X rays showed transposition of great vessels and question of an IASD. The patient was placed in O2 and when fine rales appeared Diamox was given with good results. Angiography and peripheral saturations confirmed diagnosis of transposition. The liver edge remained down 3-5 cm and a Senning repair was performed on March 14. Postoperatively the patient's urinary output ceased. Despite vasopressors the blood pressure fell to zero. No attempts at resuscitation were made.

Autopsy Diagnosis Transposition of great vessels; stenosis of superior caval orifice.

Case 76 (AI5582, 2 months, 30 Mar 61)

Clinical History The patient was transferred at age 11!2 months from Bristol Hospital because of cardiopulmonary problems. The patient was premature at birth, and at 3 days of age Case Descriptions 209 a systolic murmur was heard. X ray was read as a question of hyaline membrane disease. The patient was digitalized but was thought to be in failure; the digitaliza• tion was then stopped. The patient became more and more dusky with increased respiratory distress and with poor weight gain. A feeding problem developed. At this time the patient was transferred to GNHCH. On admission the physical exam revealed rales and decreased breath sounds over the right chest with rhonchi. A grade II systolic murmur was heard over the precordium loudest at the apex, radiating to the axillae and the back without any diastolic component. No thrills were felt. The liver was felt 1.5 cm below the right costal margin. No other masses were palpable. Admission laboratory data included Hb of 9.7, Hct of 35, WBC of 8750 with 50 polys, 7 bands, 33 lymphs, 8 monos, and 2 eosinophils. Urinalysis was normal with 1 + albumin. During his hospital stay the white count did not rise higher than 10,300. Hemoglobin, however, steadily dropped and rose only after transfusion.

BUN was 15 but subsequently became 23; CO2 was 26.1 but subsequently became 33.8. Chloride was 102, subsequently 87; sodium was 137, subsequently 133; potassium was 4.5, subsequently 6.5; pH was 7.28, and arterial O2 saturation was 87%. Nose and throat cultures grew out S. albus, coliform bacilli, Pseu• domonas, and S. aureus. Blood culture revealed no growth. X rays showed persistent pneumonitis in the right middle and upper lobe. EKG showed right-axis deviation, right bundle branch block. Angiocardiography revealed no right-to-Ieft shunt. The patient was on a 2-week trial of penicillin and chloromycetin, was digi• talized with digoxin, and maintained on 0.02 mg every 6 hr. He also received diuril, and was placed in oxygen. Several transfusions were performed during the hospital course. The diagnosis most entertained was large IVSD, with some question of undefined pulmonary pathology. The patient was placed on potassium iodide and zephiran chloride. The patient's course was steadily downhill, and he expired on March 29, 1961.

Catheterization Studies 16 Mar 61 Right atrial pressure, 7 mm Hg (mean) Right ventricular pressure, 91-113/9-16 mm Hg

Autopsy Diagnosis Membranous ventricular septal defect; right and left ventricular hypertrophy and dilatation; hypertrophy of crista supraventricularis; dilated pulmonary artery; diffuse atelectasis and congestion of lungs; left lower lobe diffuse pneumonia.

Case 77 (AI5587, I month. I Apr 61)

Clinical History The patient was the second of two children and the product of a full-term uncomplicated pregnancy in a 24-year-old white female. Cyanosis of the face and intermittent dyspnea were noted at birth. Birth weight was 6 Ib 3 oz. The patient was discharged at 1 week in good condition. 210 Case Descriptions

At 3 weeks of age the patient was readmitted to Derby Hospital for cyanosis, cough, and dyspnea. PE revealed a Grade II harsh systolic murmur at the pulmonic region. Bilateral rhonchi and rales were present in addition to marked cyanosis, wheezing, and dyspnea (T was 100.8°; R was 60). Lab data revealed CO2 of 57, urine positive for sugar, Hct of 65, WBC of 14,000, and an umbilical culture of coagulase-positive staphylococci. The patient was started on appropriate antibiotics and digitalized. EKG and X-ray studies showed segmental pneumonia or atelectasis and transposition of the great vessels. The patient was then transferred to G NH CH on March 17, 1961, for further evaluation. On admission P was 144, R was 100, and Twas 99.0° with the persistence of cyanosis and dyspnea. PE showed bilateral rales, increased heart size and a Grade II-III systolic murmur over the entire precordium radiating to the back. The liver was down 3 cm. X-ray studies showed increased heart size along with increased pulmonary vascular markings. Despite digitalization, pitting edema of the extrem• ities appeared. Diamox was given with good results. Angiography on March 27, 1961, demonstrated transposition of the great vessels and an atrial septal defect. On March 31 a banding of the pulmonary artery was performed. The P A was constricted 50% with a concomitant rise in aortic pressure from 25/20 to 40 mm Hg. Sixteen hours postoperatively the patient became cyanotic and pulseless and expired despite external massage on April I.

Autopsy Diagnosis Transposition of great vessels with interventricular septal defect; patent foramen ova Ie and patent ductus arteriosus; cardiac hypertrophy and dilatation; congestion of viscera.

Case 78 (A 15590, 4 days,S Apr 61) Clinical History This 4-day-old infant was transferred from Milford Hospital on March 31, 1961, with progressive cyanosis, enlarged heart, absence of femoral pulses, and progressive failure. A murmur had been present for 8 hr on admission. PE revealed a small, sandy-haired, cyanotic female with labored respirations of 60 with poor tone. The chest was clear. There were no rales or rhonchi. A moderately coarse and harsh ejection-type systolic murmur was heard best in the second left interspace and the fourth left interspace. The right cardiac border seemed enlarged to the right; the left seemed normal. P2 was sharp. The liver was down to the umbilicus, firm and not pulsating. There was marked cyanosis of feet, slow fill• ing of blanched regions in the legs. Good brachial pulses were present but no femoral pulses were felt. EKG revealed right ventricular hypertrophy with no P waves. X ray with barium swallow revealed an increased right heart with increased vascular markings and no specific pattern to the silhouette. A Coomb's was nega• tive. Type was D+. Bilirubin on admission was 12.3; the next day it was 16.0. Blood cultures were sterile. On the 5th day of life, biluribin was 15.5. The liver continued to be enlarged despite digitalization. On the afternoon of the 6th day of life, the Case Descriptions 211 infant was found lying face down but without obstructed airway. Intubation of trachea revealed vomitus. Culture of blood and spinal fluid were negative.

Autopsy Diagnosis Mitral atresia; hypoplastic left ventricle; right ventricular hypertrophy; interventricular septal defects (two); patent foramen ovale; hypoplasia of aorta with infantile coarctation; patent ductus arteriosus; persistent left superior vena cava draining into coronary sinus; focal necrosis, siderosis, and calcification of adrenal glands and peri pelvic connective tissue of kidneys; slight fatty change and sinusoidal fibrin thrombi in liver; icterus; congestion of viscera.

Case 79 (AI5591, 1 month, 4 Apr 61)

Clinical History This 3-week-old white male was admitted for the second time on March 24, 1961. Mild cyanosis had been noted at birth, but evaluation at that time had not revealed definite evidence of congenital heart disease. Fifteen hours prior to admission, increased cyanosis and respiratory distress were noted. On admission PE revealed pitting edema, marked cyanosis, and fine rales in both lungs and a liver edge down 4 cm. No murmurs were heard. He was afebrile

and lab data included a Hb of 17.8, a Hct of 69%, normal WBC, CO2 of 15, and a sodium of 144. He was rapidly digitalized and given diuretics. During the next 10 days cyanosis and failure persisted. On March 30 a venous angiogram was performed which revealed transposition of the great vessels with a patent ductus. On April 3 a Blalock-Hanlon procedure was carried out and the ductus was ligated. Despite vigorous supportive measures postoperatively, cardiac arrest occurred after 8 hr.

Autopsy Diagnosis Transposition of the great vessels; patent ductus arteriosus; large surgical open• ing in interatrial septum; congestion of viscera.

Case 80 (A 15606, 21J2 months, 10 Apr 61) Clinical History This 21i2-month-old white female was transferred to GNHCH from HSR on March 23, 1961 for cardiac evaluation. She was born in Southington, Connecticut on January 16, 1961, the product of an uncomplicated pregnancy and delivery of a 40-year-old gravida 3, para 2. She was noted to be slightly blue and was transferred to HSR. EKG revealed right-axis deviation and biventricular hypertrophy. X rays showed left atrial enlargement. and fluoroscopy suggested patent ductus arteriosus.

PE on admission revealed a T of lOLl 0, P of 128, and R of 46. She was a poorly nourished, white female with striking face. There was a small chin, large tongue, mongoloid eyes and abnormal insertion of the thumbs. Ears were low-set with poor cartilage formation. The LBCD was at the AAL. A thrill was palpable over the entire precordium. best at the base. A Grade II harsh systolic murmur was 212 Case Descriptions heard best along the LSB at the left base and was transmitted to the anterior and posterior chest, the mandible, and neck. P 2 was loud and finely split; A2 was not heard. The 1st sound was loud. Neurologic exam revealed hyperactive deep tendon reflexes (DTR) plantar flexion and absent Moro. While general pediatric evaluation was underway, repeated aspiration and apneic speUs became quite a serious problem. On April 8, 1961, a Geverly-Douglas repair of the tongue was performed. Apneic speUs continued on the 1st postoperative day and the child did not respond to resuscitative efforts after the third such speU. Lab data on admission included a Hb of 12, Hct of 39%, and WBC of 14,750. A progressive anemia occurred with a faU to 8.8 after 10 days. A reticulocyte count was 4.9 five days after oral Fe therapy. Hb on the day of demise was 12 with Hct of 38%. Urine findings were within normal limits. Three days after admission NPN was 14, TP was 5.2 with albumin 3, CO2 was 25.1, CI was 107, Na was 137, K was 5.3, Ca was 10.6, and P 5.1. Chromosome studies showed chromosome No. 17 and trisomy for No. 17. Later urine cultures grew out coliform and S. albus.

Autopsy Diagnosis Low-set ears with absence of antihelix, micrognathia, glossoptosis (Treacher• CoUins syndrome); patent ductus arteriosus; interventricular septal defect; dextroposi• tion of the aorta; redundancy of valvular tissue with myxomatous mesenchyme; cardiomegaly; horseshoe kidney with duplicated pelvis on right; polycystic disease of kidneys (minimal, microscopic); hypoplasia of ovaries.

Case 81 (A15616, 1 month, 18 Apr 61)

Clinical History This patient was born at Saint Raphael's Hospital on March 11, 1960 as the product of a full-term uncomplicated pregnancy of a 46-year-old gravida 5, para 5 white mother. At birth the patient was mongoloid in appearance and cyanotic. He was in an O2 incubator for the first 24 hr of life. Cyanosis was noted repeatedly after birth, accentuated by crying. No murmur was heard until 2 months of age. He did fairly well at home in spite of constant difficult, heavy rapid respirations. He had frequent URI. The patient's 1st admission to GNHCH was at 5 months of age on August 1, 1960, for a right upper and left lower lobe pneumonia. PE on that admission revealed red, blotchy erythema on the entire body with a few fading petechiae on the trunk. The head was asymmetrical with left-sided prominence. Both nares were fiUed with crusted purulent, mucoid secretions. The face revealed typical mongoloid fea• tures with slanting oriental eyes sloping medially. The tongue was large and the patient's airway occluded on deep inspiration. Lungs revealed duUness to P in the R VL field, and breath sounds were decreased throughout. Inspiratory and expira• tory rhonchi and wheezes were present. The heart showed a sinus tachycardia with occasional diastolic gallops. An apical systolic murmur was present in the fourth and fifth intercostal spaces 2 cm to the left of the midclavicular line. No thrill was present. A Grade I. soft early systolic murmur was heard well localized in the fourth intercostal space at the left sternal border. P2 was louder than A2, and the heart Case Descriptions 213 sounds were of good quality. Examination of the abdomen revealed a liver edge down 3 cm from the costal margin, firm, nontender and nonpulsatile. Extremities showed short stubby thumbs and slightly longer fingers. On admission the patient had a Hb of 4.4, a Hct of 45%, and a WBC of 11,400. Chest X ray revealed R U L opacification with partial atelectasis and LLL pneu• monia. The heart was enlarged in its transverse diameter and thought to be RVH. No left atrial enlargement was present. Pulmonary vascular markings were increased. EKG revealed RBBB (incomplete) and RVH with left-axis deviation at - 85 degrees. The patient was treated with appropriate antibiotics and later digi• talization was started to manage the congestive failure. The pneumonia cleared, and the patient was discharged. The patient did well until 4 days prior to his second admission on April 17, 1961 at 13 months of age. An upper respiratory infection and congestive failure recurred. PE on admission revealed R of 60 and P of 160. The patient was afebrile. Rales and rhonchi were present in both lung fields. Heart features were the same as before. The liver edge was down 5 cm. The patient was digitalized and 17 hr after admission expired unattended.

Autopsy Diagnosis Persistent ostium atrioventriculare commune; patent foramen ovale; patent ductus arteriosus; right ventricular hypertrophy and dilatation; right atrial dilata• tion; massive necrosis of right ventricular myocardium; left ventricular dilatation; mural thrombus, anterior papillary muscle left ventricle; vegetative endocarditis; common A V valve; bilateral pleural effusion; passive congestion of viscera.

Case 82 (AI564l, 9 days, 1 May 61)

Clinical History The patient was admitted to HNHCH on April 25, 1961, 3V2 days after birth at Bridgeport Hospital. Pregnancy and delivery were uncomplicated, and his birth weight was 11 lb 1 oz. Cyanosis was noted at birth, was progressive and unofficially improved in oxygen. A Grade II systolic murmur was heard at the left sternal border at 12 hr of age. There apparently was no familial history of congenital heart disease. PE on admission revealed a large, moderately cyanotic infant. He seemed somewhat lethargic. The lungs were clear to P and A. There was a systolic murmur at the left sternal border in the third and fourth intercostal space. Some observers noted a diastolic component to the murmur in the same region. The liver was palpa• ble 2-3 cm below the right costal margin. It was not felt to be pulsatile. Peripheral pulses were intact. Admission lab data revealed a Hb of 18.8 g/100 ml, a Hct of61%, and a WBC of 10,000. Urine was negative. EKG revealed right-axis deviation, right atrial enlargement, and probably left ventricular hypertrophy. The heart was grossly enlarged by X ray, and the pulmonary vasculature was noted to be significantly decreased. The pulmonary artery segment was concave with a suggestion of narrow• ing of the mediastinum. 214 Case Descriptions

On the 2nd hospital day the patient experienced the first of three anoxic epi• sodes characterized by marked dyspnea and increased cyanosis. These responded in varying degrees to the knee-to-chest position, O2, and morphine sulfate. Peripheral arterial saturation on April 26 showed a saturation of 25%. An angiocardiogram failed to demonstrate filling of the right ventricle, all of the venous return apparently reaching the left atrium by an enlarged IASD. On April 28 a SVC-RP A and pulmonary valvulotomy were performed to provide an increase in pulmonary blood flow. The patient tolerated the procedure and early postoperative course well with some evidence of improvement insomuch as he could tolerate brief periods out of O2 without developing cyanosis. On April 30, without antecedent difficulty, respiratory distress followed shortly by cardiac arrest developed. Attempts at resuscitation were unsuccessful.

Autopsy Diagnosis Pulmonic atresia; hypoplastic right ventricle; tricuspid stenosis; patent foramen ovale and ductus arteriosus; recent surgical anastomosis of superior vena cava and right pulmonary artery; pulmonary congestion and edema.

Case 83 (AI5671,31 years, 11 May61)

Clinical History The patient was a 31-year-old white male who entered GNHCH on April 27, 1961 for elective cardiovascular surgery. The patient was noted to have a murmur and to be cyanotic shortly after birth. The pregnancy had been normal, and the delivery was full-term and spontaneous. The patient developed normal\y but was always short of breath and cyanotic on exertion. He was first seen here at the age of 16 when he was noted to have a harsh, pulmonic systolic murmur. Right heart catheterization produced the following results in volume percentage of O2: RA, 16.6; RV, 16.3; SVC, 14.5. O2 saturation was 89% at rest and 91 % on 100% 0 •. It was thought at the time that the patient had pulmonic stenosis. In 1959 a recatheteriza• tion and cardiac workup was completed. Positive findings included clubbing of the fingers and toes. A harsh Grade III crescendo murmur was heard loudest in the fifth intercostal space. The Hct was 52. EKG showed rare PVC, right bundle branch block and first degree A V block. Chest X ray was interpreted as dilatation of the right ventricular outflow tract and narrowness of the pulmonary artery with a decreased vascularity of the hilum, consistent with infundibular stenosis. Catheteri• zation and angiography were reported to be consistent with pulmonic stenosis. The catheter appeared to pass from the right atrium to the left atrium which suggested a patent foramen ovale. At the time of admission the patient stated that his shortness of breath and cyanosis on admission, which followed climbing one flight of stairs or walking five city blocks, had remained the same over the past 17 years. He noted infrequent episodes of palpitation but had no orthopnea, paroxysmal nocturnal dyspnea, anterior chest pain, ankle edema, cough, or hemoptysis. PE showed a BP of 120/75, P of 70 with occasional missed beats, and R of 20. There was no cyanosis. A ruptured left tympanic membrane was present with the Weber test lateralizing to the left. There was slight kyphosis and scoliosis with a Case Descriptions 21S concavity to the right. The lungs showed a decreased fremitus and decreased breath sounds on the left. The PMI was in the fifth intercostal 9 cm to the left of the mid• sternal line. A Grade III harsh systolic murmur could be heard throughout the chest, maximum in the fourth and fifth intercostal spaces of the left sternal border and also radiating into the neck. All major pulses were palpable. Prior to operation, the case was reviewed by Dr. Glenn who thought the patient had infundibular stenosis on the basis of (I) tetralogy of Fallot; (2) infundibular hypertrophy secondary to pulmonic stenosis with resultant right ventricular hypertrophy leading to infundibular hypertrophy, noting that these patients usually have a right ventricular pressure of about 200 while this patient had a right ven• tricular pressure of 100; or (3) infundibular stenosis without pulmonary stenosis accompanied by a ventricular septal defect. Tetralogy of Fallot was considered to be most likely in view of the right ventricular pressure of 100, a Hct of 50%, and the systolic murmur in the fourth intercostal space in the midsternal line. The patient was operated on. Anesthesia lasted for 7 hr. Perfusions were carried out twice, one for I hr and 6 min, the other for 47 min. Pulmonary valvulotomy and infundibular resection were performed. Following this there was no significant difference in pulmonary arterial pressure. A second ventriculotomy was performed but no ven• tricular septal defect was noted. Postoperatively, vasopressors were necessary to support his blood pressure. On the 2nd postoperative day BUN increased to 44, and he failed to void. He was placed on a low fluid regimen, and on May 7 the serum potassium was 6.5. The patient put out a small amount of urine which showed a sodium of 17 mEq/1. On May 8 the BUN was 158, the potassium following increased fluid intake was 4.8, and urine output was 250 ml. By May 9 the patient's intake was 1400 ml, his output 820 ml, BUN of 175, and a potassium of 5.6. On the same day EKG showed auricular fibrillation with a ventricular rate of 110. On May 10 the patient expired following aspiration and a period of apnea.

Catheterization Studies 28 Sep 59 Pulmonary artery pressure, 12 mm Hg (mean) Right ventricular pressure, 70-100/10 mm Hg Right atrial pressure, 10 mm Hg (mean)

Autopsy Diagnosis Large interventricular septal defect with over-riding aorta; cardiomegaly; pulmonary valve, postrepair; small interatrial septal defect, postrepair, site of infun• dibular resection; tracheostomy; pulmonary edema.

Case 84 (AI5675, 6 years, 13 May 61)

Clinical History This 6-year-old female was admitted for the fifth time to GNHCH on April 24, 1961 for an SVC-RPA procedure. She had been followed by the pediatric car• diologists since 7 weeks of age. She was the product of a full-term normal preg• nancy. A heart murmur appeared during the 1st week of life as well as cyanosis. PE 216 Case Descriptions

at 7 weeks revealed a harsh systolic murmur at the LSB in the first and second interspaces. P2 was pure. A diagnosis of single ventricle and pulmonic stenosis was

based on EKG precordial patterns (same in all leads), diminished P2, and decreased pulmonary vascular markings on X ray. At 2 years of age, marked exercise intolerance and frequent squatting were noted. On September 30, 1958, catheterization had revealed a persistent left superior vena cava. Angiocardiogram showed a single ventricle and pulmonic stenosis.

Arterial saturation on room air was 50-60% with one of 97% when on 100% O2• A right-to-left shunt of 60% was calculated. The child had multiple bouts of otitis media and developed a right parietal cerebral abscess which was drained on October

29, leaving residual left-sided weakness. On June 1, 1960, the child had 28% O2 satu• ration when breathing air. The right-to-left shunt was calculated at 80%. Cardiac catheterization on June 7 showed a left-to-right shunt at the atrial level and trans• position of the great vessels. Angiography on June 14 showed transposition and a left superior vena cava entering the cornary sinus. Catheterization on September 15 appeared to demonstrate anomalous pulmonary veins. PE on April 24, 1961, revealed a markedly cyanotic child with P of 110 and R of 28 and afebrile. An active heave was present at the LSB. A soft Grade II-III sys• tolic murmur was present along the LSB. The liver edge was down 3 cm. Lab data included an Hb of 25.4 and an Hct of 86%. EKG revealed right ventricular and right atrial hypertrophy. On May 1 and 4, 1961 the child was phlebotomized. The Hct decreased to 73%. On May 12 an SVC-RPA was attempted. During the early dissection ventricular arrest occurred, and resuscitative efforts were of no avail.

Catheterization Studies 15 Sep 60 Right atrial pressure, 11-15 mm Hg (a) and 7-8 mm Hg (mean) Right ventricular pressure, 63-78/0-5 mm Hg Pulmonary vein pressure, 9-10 mm Hg (mean)

Autopsy Diagnosis Transposition of great vessels of heart with patent ductus arteriosus and anoma• lous return of right upper pulmonary vein to right atrium; hypertrophy of right heart; persistent left superior vena cava.

Case 85 (A15687, 3 months, 17 May 61) Clinical History This was the second GNHCH admission of this 3-month-old white male who entered on April 1, 1961, with a chief complaint of a blue leg of I-day duration. This child was the product of an uneventful pregnancy but was cyanotic at birth. There was evidence of congestive heart failure at that time, and an EKG showed right ventricular hypertrophy. A Grade II systolic murmur was present along the left sternal border. The baby has been transferred here on February 18, 1961, for workup. Venous angiograms were done which showed a transposition of the great vessels and an intraatrial septal defect with a right-to-left shunt. He was digitalized and appeared to be doing well at the time of discharge on March 2. Two Case Descriptions 217 weeks prior to the last admission, he had the onset of loose stools which persisted. The leg then appeared blue on the day prior to admission. PE revealed a P of 140 and an R of 60 and was afebrile. He was moderately cyanotic. A Grade II-III harsh, blowing systolic murmur was heard loudest at the left sternal border. The liver was down 2 cm. Deep tendon reflexes were reduced in the lower extremities. Both lower extremities showed purple discoloration of the skin. Heparin and intravenous fluids were administered, and later on the day of admission a thrombectomy was performed with the removal of fresh clot from the femoral and iliac arteries. Postoperatively, however, the extreme cyanosis of the ex• tremities persisted. On the 20th hospital day, amputation of the left foot was carried out. Wound infection postoperatively was successively combated with achromycin therapy. Later the child progressed into congestive failure and renal decompensation as exhibited by the presence of granular casts. Respirations slowed and apnea set in with the patient expiring on May 15, 1961.

Autopsy Diagnosis Transposition of the great vessels with small patent foramen ova1e; right ven• tricular hypertrophy; pulmonary edema and congestion of viscera; thrombosis of inferior vena cava, renal veins, and internal iliac veins; occlusions of aorta and internal iliac arteries; surgical absence of left foot.

Case 86 (AI5689, 6 1/2 years, 17 May 61)

Clinical History This was the fifth admission of a 6 V2-year-old white female. The child was born on September 20, 1954 of a normal full-term spontaneous delivery. The prenatal period was uncomplicated. At the age of 4 months, during an upper respiratory infection with coughing, cyanosis was noted. X rays showed an enlarged heart, and a heart murmur was heard. Her first admission was here on February 8, 1955. PE showed a thin, poorly nourished infant with an enlarged heart, a palpable systolic thrill, and a Grade III harsh, systolic precordial murmur. The liver and spleen were enlarged. The patient was discharged after responding well to digitalis. She was followed in the Cardiac Clinic and maintained on digitoxin. Serial EKG showed left-axis shift and left ventricular hypertrophy. Fluoroscopy showed increased pulmonary vascular markings and hilar dance. She was readmitted for the second time in April, 1956, with viral pneumonia. Liver and spleen were enlarged, and the patient was treated with penicillin, digitoxin, and oxygen. The chest X ray showed a marked left ventricular enlargement and increase in pulmonary vascular markings. The child was repeatedly seen in the Pediatric Cardiac Clinic where digitoxin was continued (0.02 mg daily with 0.02 mg twice a week added). She also received prophylactic penicillin. Chest films showed marked prominence of pulmonary vascu• lature with enlargement of the left atrium, left ventricle, and pulmonary outflow tract. She was admitted for the third time on May I, 1957, for cardiac catheteriza- 218 Case Descriptions

tion. Angiography was compatible with IVSD with left-to-right shunt. The catheteri• zation findings confirmed this impression and revealed marked pulmonary hyperten• sion. The patient was admitted for the fourth time in December 1959, for repeat catheterization. These studies showed a left-to-right ventricular shunt with pulmonary blood flow 2-2V2 times the systemic blood flow. There was severe pulmonary hypertension and variable pulmonary resistance. In January, 1960 the patient had German measles followed by persistent URI. She was admitted for the fifth time on May 9 for surgical correction. Fluoroscopy of the chest showed enlargement of the left atrium and right and left ventricles. There was an increase in the pulmonary artery segment and also in the pulmonary vasculature. EKG showed left ventricular hypertrophy and digitalis effect. On May 16 the patient underwent repair of the anterior ventricular septal defect. The period of perfusion was 41/2 hr. The defect measured 2V2 X I V2 cm. Reperfusion was necessary to realign the patch which was occluding the pulmonary outflow tract. The morning after the operation the patient went into cardiac arrest and expired. Catheterization Studies 2 May 57 Right ventricular pressure, 78/0 mm Hg Left pulmonary artery pressure, 90/0 mm Hg 10 Dec 59 Right atrial pressure, 2 mm Hg (mean) Right ventricular pressure (inflow tract), 85-94/2-12 mm Hg Right ventricular pressure (outflow tract), 72-86/5-10 mm Hg Pulmonary artery pressure, 83-87/51-55 mm Hg Left pulmonary artery pressure, 84-92/44-55 mm Hg Autopsy Diagnosis Interventricular septal defect; overriding aorta; enlarged pulmonary artery; infundibular pulmonic stenosis; right ventricular dilatation and hypertrophy; right auricular dilatation; pulmonary atelectasis; congestion and petechial hemorrhages of viscera; tracheostomy; cerebral edema.

Case 87 (AI5711, II years. 26 May 61) Clinical History This II-year-old white male entered GNHCH on May 16, 1961, the second time for open heart surgery. The diagnosis of interatrial-septal defect with ques• tionable pulmonic stenosis and left upper lobe bronchietasis was confirmed on his first admission in June, 1960. On that admission a heart murmur which had been present from birth was heard over the entire precordium. This was a systolic murmur heard loudest in the second left intercostal space. The patient had been cyanotic for his entire life. Cardiac catheterization studies at that time revealed a left-to-right shunt present at the atrial level. The oxygen saturation increased as catheter passed from the lower superior cava position into the midright atrial level. Calculation of the pulmonary arterial flow revealed it to be five times as great as the systemic flow. There was moderate elevation of the right ventricular pressure; however, the pulmonary arterial pressure was normal. This was suggestive of pulmonic stenosis, possibly valvular but more likely functional stenosis. The right atrial end-diastolic pressure was Case Descriptions 219 moderately elevated suggesting mild right ventricular failure at that time. Angiocar• diogram taken on that admission confirmed an enlarged right atrium, right ventricle, and pulmonary artery. Although a satisfactory bolus was not achieved, the angiographic findings were compatible with interatrial septal defect. The patient's past history revealed nine hospitalizations for workup of his con• genital heart disease at Boston City Hospital and recurrence of respiratory infections with four bouts of pneumonia. Chest film on his admission here in June, 1960, revealed left upper lobe cystic disease to be present. On May 23, 1961, open heart surgery was performed. The atrial septal defect was visualized and estimated by the surgeon to be 7 cm across. Some fibrous remnants were present on the foramen ovale. A Teflon patch was used to close the IASD. The pulmonary artery was markedly dilated and was estimated to be two to three times as large as the aorta. During the full perfusion which lasted for 2 hr, a large retrograde collateral flow was present in the pulmonary artery necessitating constant suction. Postoperatively the patient had a tracheotomy for better control of his secretions. Twelve hours postoperatively, while the patient had been on intermit• tent positive pressure breathing, there was an increased opacification in the right upper lung field and appearance of emphysematous blebs on portable chest films. Thirty-two hours postoperatively the patient went into cardiac arrest, and open massage was successful. The patient again went into cardiac arrest 41 hr postopera• tively. A second cardiac massage was temporarily successful, but the patient expired 43 hr after operation.

Catheterization Studies 10 Jun 60 Right atrial pressure, 6-11 mm Hg (a) and 5 mm Hg (mean) Right ventricular pressure, 57-62/9-12 mm Hg Pulmonary artery pressure, 16 mm Hg (mean) Femoral artery pressure, 100-102/70-73 mm Hg Autopsy Diagnosis Interatrial septal defect; dilation of right atrium; dilation and hypertrophy of right ventricle; ectasia of pulmonary artery; pulmonary congestion and edema.

Case 88 (AI5782,2 days, 27 Jun 61) Clinical History This 2-day-old white female was admitted on June 12, 1961 because of cyanosis since birth. The patient's mother was a 31-year-old gravida 6, para 5, 0+, who was delivered by Caesarean section I week prior to expected date of confinement (EDC) because of placenta praevia. No murmur was present at birth, and the spleen and liver were not enlarged. Chest film showed decreased pulmonary vascular markings, and an EKG revealed peaked P waves and right ventricular hypertrophy. PE on admission showed a P of 150, R of 60, and T of 100.0°. The child was cyanotic with mongoloid facies in no acute distress. The chest was clear, and the heart was not enlarged to P. No murmurs were heard. P2 was greater than A2• The liver was down 3 cm. The spleen was not palpable. The patient continued to feed poorly. On June 21 a venous angiogram was performed and showed evidence of a hypoplastic aortic arch supplied by a patent 220 Case Descriptions ductus arteriosus. During the angiogram, the patient had respiratory arrest. The patient continued to do poorly. Gavage feedings were instituted. On June 26, con• tinuing an afebrile course and persistent cyanosis, the child was noted by the nurse to be unresponsive. Attempts at resuscitation were unsuccessful.

Autopsy Diagnosis Coarctation of aorta (infantile type); patent ductus arteriosus; interventricular septal defects (two); right ventricular hypertrophy and dilatation; right atrial hypertrophy and dilatation; mitral atresia and hypoplastic left atrium.

Case 89 (AI5791. 21f2 months, 3 Ju161)

Clinical History This 2 1/2-month-old male was admitted to GNHCH for the first time on May 18, 1961 for sluggishness. The child was the product of a full-term uncomplicated pregnancy in a 34-year-old, gravida 4, para 4 mother. Cyanosis and a murmur were both present at birth. A temperature of 101 ° on the day prior to admission was treated with achromycin. PE on admission revealed a T of 98.6°, R of 24, and P of 140. BP was 110 in the arm and 100 in the leg. Generalized cyanosis was present. A systolic thrill was present along the left sternal border. A Grade III, harsh crescendo, decrescendo sys• tolic murmur was present along the left sternal border. A diastolic murmur was conducted to the acromion. Liver edge was down 3 cm. Admission lab data included a Hb of 14.2. Hct of 44, and WBC of 40,000. Nose and throat cultures grew S. aureus. Chest X ray showed marked decrease in pulmonary vascular markings and cardiac enlargement. EKG revealed right ven• tricular hypertrophy. Catheterization studies on May 23 showed an arterial satura• tion of 63.1 % with 68% of the systemic venous return bypassing the lungs. The patient was readmitted on June 22 for further studies. Lab data then included a Hb of 15.4. Hct of 49, and WBC of 12,950. On June 23 catheterization studies demonstrated pulmonic stenosis with a large (80%) right-to-Ieft shunt at the atrial level. Pulmonary valvulotomy was performed on June 28. Cardiac arrest dur• ing the procedure was managed with CaCl2 and massage. Postoperatively, respira• tory difficulty increased. and some emphysema appeared on X ray along with congestion of the lung fields. On the 4th postoperative day the child became cyanotic. ceased respirations, and expired.

Catheterization Studies 23 Jun 61 Superior vena cava pressure, 6 mm Hg (mean) Right atrial pressure, 16-18 mm Hg (a) and II mm Hg (mean) Right ventricular pressure, 128-142/10-17 mm Hg Left atrial pressure, 8-14 mm Hg (a) and 7 mm Hg (mean).

Autopsy Diagnosis Pulmonic stenosis (valvular and infundibular) and patent foramen ovale; pulmonary congestion in left upper, right upper and middle lobes. Case Descriptions 221

Case 90 (A 15840, 14 years, 4 Aug 61)

Clinical History A heart murmur was first heard at 3 weeks of age. The patient was the second of two children and the product of a full-term uncomplicated pregnancy. At 8 months of age, the diagnois of IVSD was considered in GNHCH Cardiac Clinic. Shortness of breath, easy fatigability, and circumoral cyanosis appeared at 14 months. The patient reappeared in the Cardiac Clinic in 1954 (7 yr) with easy fatigue and circumoral cyanosis. Cardiac catheterization and angiocardiograms were performed. These studies revealed infundibular pulmonary stenosis with no left-to• right shunt. On second admission in 1957 pulmonic stenosis was still present along with right-axis deviation and right ventricular predominance on EKG. On X ray the lung fields were hypo vascular. Angiocardiogram on this admission showed pulmonic stenosis and an IVSD. Arterial puncture studies were performed on June 3, 1959, and confirmed the diagnosis of pulmonic stenosis and IVSD. Corrective surgery was advised and the patient entered GNHCH on May 18, 1961 (14 yrs). PE included BP of 130/90, P of 72 and regular, and R of 16. The patient was afebrile and exhibited duskiness of the nailbeds and lips. Examination of the heart revealed a systolic thrill at the LSB and the midclavicular line (MCL). PMI was in the third intercostal space at the LSB. A pansystolic murmur was heard over the anterior and posterior chest walls. It was transmitted to the neck. The ex• tremities showed slight cyanosis of the fingers. On May 25 open heart surgery was performed. This consisted of pulmonary valvulectomy, infudndibulectomy, and Teflon patch repair of the IVSD. The pulmonic valve was bicuspid and in resection of the infundibulum one leaf of the bicuspid valve was removed. Total perfusion time was 2 hr 4 min. The immediate postoperative course was complicated by excessive blood loss. Reopening the chest revealed no bleeding point. A moderate febrile course ensued, and EKG revealed a complete RBBB. Right heart failure appeared on June 10 with hepatomegaly persisting despite digitalization and diuretics. The right heart failure persisted despite therapy, and pulmonary congestion appeared in mid-July. Thoracenteses on July 25 and 27 yielded 600 ml and 380 ml from the right and left hemithorax, respectively. Soon thereafter icterus appeared. Peripheral edema set in, and decreased. After three agonal convulsions on August 3 the patient expired.

Catheterization Studies 20 May 54 Right atrial pressure, 4/0 mm Hg Right ventricular pressure, 135/2 mm Hg Femoral artery pressure, 140/73 mm Hg

Autopsy Diagnosis Tetralogy of Fallot; persistent interventricular septal defect at site of Teflon patch repair; vegetative endocarditis on margins of Teflon patch; dilatation of tri• cuspid valve annulus; congestion of viscera; pulmonary edema and congestion. 222 Case Descriptions

Case 91 (A I 5878, 11/2 years, 19 Aug 61)

Clinical History This white female was first admitted to GNHCH on July 8, 1960, at 51/2 months of age. She was the product of an uncomplicated pregnancy and weighted 6 lb \3 oz at birth. On the 3rd day of life dyspnea, poor tone, pallor, and periods of apnea and tachypnea appeared. Cardiomegaly was present on PE and X ray. A sys• tolic murmur was heard. At home the child failed to gain weight and was readmitted to St. Francis Hospital in Hartford on the 9th day of life. During 32 days in the hos• pital the child failed to gain weight. At 31f2 months of age X rays showed cardiomegaly and increased pulmonary markings. A right upper lobe infiltrate was suggestive of pneumonia. She was digitalized, and after the appearance of S. pyo• derma she was transferred to GNHCH. Diagnostic procedures before admission here had also revealed anomalies in the vertebral spine with scoliosis, hemivertebrae in the middorsal region, premature closure of the coronal suture, and EKG evidence of right-axis deviation and right ventricular predominance. PE revealed a wasted child with a crusted papular rash over the trunk, face, scalp, and extremities, a sman asymmetrical head with an opened fontanelle, left chest enlargement and scoliosis to the right, rales in both lung bases, a precordial heave, and systolic murmur heard over the precordium. P2 was loud and split, and a systolic heave was noted in the PMI area. The liver was down 3 cm below the costal margin, and there were good peripheral pulsations. Infiltrates persisted in the lung field on X ray, and cineangiography revealed a large left-to-right shunt. Periphral arterial saturation of 82% indicated the existence of a right-to-Ieft shunt. The child was always acyanotic. On September 8, 1960, right heart catheterization showed a large left-to-right shunt at the ventricular level as wen as right-to-Ieft shunt. Right and left failure were present along with pulmonary hypertension. The patient was admitted to GNHCH for the second time on May 22. 1961 because of recurring URI and dyspnea. Chronic loss of right upper lobe lung volume was present and the patient was considered for pulmonary artery banding. The patient was admitted for the third time on August IS. 1961 for the banding of the pulmonary artery at 19 months of age. PE showed some decrease in the volume of the murmur suggestive of reversal of the shunt starting to take place. At operation the pulmonary artery was decreased in diameter from 1.6 to 1.2 cm. The morning fonowing the operation the patient suddenly went into cardiac arrest, and a good beat could not be resumed.

Catheterization Studies 8 Sep 60 Superior vena cava pressure, 20-24 mm Hg Right atrial pressure, 12-\3 mm Hg (a) and 5-7 mm Hg (mean) Right ventricular pressure, 96-180/10-15 mm Hg Pulmonary artery pressure, 92-100/25-40 mm Hg Left atrial pressure, 15-17 mm Hg (a) and 9-12 mm Hg (mean) Left ventricular pressure, 116-124/10-14 mm Hg Case Descriptions 223

Autopsy Diagnosis Persistent atrioventricularis communis and fenestration of fossa ovalis; right and left ventricular hypertrophy; partial atelectasis of right upper lobe; congestion of left lower lobe; congestion of viscera.

Case 92 (AI5965, I year, 2 Oct 61) Clinical History This 15-month-old male was first admitted to GNHCH on August 23, 1960 at 2 months of age. This patient was the fourth child of a 24-year-old gravida 6, para 4, AB 2 mother who had an uncomplicated full-term pregnancy. Circumoral cyanosis appeared at I month of age. At the time of the first admission the child exhibited increasing cyanosis and dyspnea of several days' duration. PE on admission showed a P of 172, R of 48, and T of 97.7°. BP was 90/40 in arms and legs. Coryzal discharge was coming from the nose. The right heart border extended 0.5 cm to the right of the sternum. A2 was greater than P2• A whistling early systolic murmur was heard in the third interspace at the midclavicular line. It radiated to the back and both axilla. A nonpulsatile liver edge was 4.5 cm below the costal margin. Generalized dusky cyanosis was present. Lab work included a Hb of 13.7, Hct of 45%, and WBC of 15,200. The reticu• locyte count was 4.5%. Blood sugar was 38. A CO2 of 16.5 was the only electrolyte abnormality. Blood pH was 5.15. EKG showed a rate of 180 with axis shift to 108°. P-R interval was 0.09, Q-R-S was 0.04. A venous angiocardiogram on the 3rd hospital day revealed a probable atrial septal defect, a ventricular septal defect, separate ventricles, a peripheral pulmonary stenosis (greater on the left), and increased trabeculation of the right ventricle. The patient was admitted for the second time on October 10, 1960, because of increased distress and cyanosis. The patient was transfused with packed cells which increased Hct from 47 to 55%. The third admission was on December 16, 1960, because of fever and diarrhea. Antibiotics eradicated the symptoms. The fourth admission was on February 8, 1961 for gastroenteritis. The patient was discharged after 2 days of observation. The fifth admission was on May 22, 1961, for three apneic spells. Transfusion of 60 ml of packed cells raised the Hb from 15.7 to 19. The sixth admission was on June 12, 1961, for another transfusion of packed cells. The patient was admitted for the seventh time on June 16, 1961. A Blalock opera• tion was performed on the right side on July 10. Preoperative Hct of 70 fell to 53 by the time of discharge on July 20. Postoperatively a Horner syndrome appeared on the right side. On October 2, 1961, the patient appeared in the ER with a history of increased shortness of breath and irritability for several days. During the history-taking, respirations ceased. Resuscitative measures were instituted, but an EKG showed ventricular fibrillation. Autopsy Diagnosis Tetralogy of Fallot; interatrial septal defect; acute and chronic enteritis; minimal periportal fibrosis of liver; congenital anomaly of left lung with split left upper lobe and fissural anomaly. 224 Case Descriptions

Case 93 (A16013, 44 years, 25 Oct 61)

Clinical History This patient was a 44-year-old white male who was admitted here for the sixth time on September 18, 1961, with a diagnosis of insufficiency of the left AV valve and corrected transposition of the great vessels. He was essentially well for the first 30 years of life except for a heart murmur first dicovered at age of 12. He was first admitted in 1952 for cardiac catheterization which was partially unsuccessful because the catheter could not be passed beyond the right ventricle. At that time he had a loud P2 and a loud systolic murmur at the apex which did not radiate. Radiologically his heart was slightly enlarged, but he had normal pulmonary blood flow. He was thought to have congenital heart disease, probably a small atrial or ventricular septal defect. During the next decade, until 1961, he was essentially well except for bouts of atrial fibrillation which were treated with digitalis. In June, 1961, a more definitive cardiac diagnosis of corrected trans• position of the great vessels with insufficiency of the left A V valve was made. The diagnosis was based on angiographic findings of a medial but posterior pulmonary artery and a left anterior aorta. The left mean atrial pressure on cardiac catheteriza• tion was 25, but during it rose to 55 and a classic V-wave pattern. At the time of his last admission for open heart surgery, he was in moderate to severe congestive failure and was unable to work, even at clerical jobs. PE revealed normal vital signs except for a P of 110. He had a loud, pitched systolic murmur and a soft diastolic murmur. The liver was 2 FB below the costal margin. Lab data revealed a Hct of 49% and deranged liver function studies. The latter included a total bilirubin of 2.3 g/IOO ml with 0.58 g/100 ml in the 1 min fraction, BSP of 1.2%, cephalin-cholesterol flocullation test (CC) of 3+, and a serum glu• tamic oxaloacetic transaminase (SGOT) of 83. Open heart surgery on September 26, 1961, confirmed the diagnosis. Repair of the left A V valve was moderately successful, but a chorda tendinae was broken with some regurgitation. Postoperatively he handled his secretions poorly. He then became severely jaundiced with a total bilirubin of 21.3 g/100 ml with 12.1 g/IOO ml in the I-min fraction. SGOT was 324 on the 7th postoperative day, his Hct was 39%, and his reticulocyte count was 8%. Platelets had fallen from normal to a low of 20,000. No antibodies could be demonstrated, and he was treated with steroids and maintained on antibiotics. Terminally, his temperature rose to 103°, his Hct dropped to 29%, and he died on October 25 on his 37th hospital day. He had received 2 units of whole blood on the day of death.

Catheterization Studies 7 Oct 52 Right atrial pressure, 8 mm Hg Right ventricular pressure, 37/8 mm Hg Femoral artery pressure, 112/60 mm Hg 14 Jun 61 Right atrial pressure, 8 mm Hg (mean) Right ventricular pressure, 43/8 mm Hg Left atrial pressure, 55 mm Hg (v) and 25 mm Hg (mean) Case Descriptions 225

Left ventricular pressure, 90/ \3 mm Hg Femoral artery pressure, 90/55 mm Hg

Autopsy Diagnosis Corrected transposition of the great vessels, bulboventricular inversion without atrial inversion, insufficiency of left atrioventricular valve; healing sternum incision with healing incisions in right atrium and atrial septum; sutures in left atrioven• tricular valve and broken chorda tendinae; cardiac dilatation and hypertrophy; small patent ductus arteriosus; left atrial thrombus; pulmonary infarct; bilateral bronchopneumonia; passive congestion of liver; emphysematous cystitis; jaundice.

Case 94 (AI6023, 1'/2 years, 28 Oct 61) Clinical History This 16-month-old white male was referred to the Cardiac Clinic at the age of 6 months for a cardiac murmur evaluation. At that time PE revealed a split-second sound in the pulmonic region and a high-pitched pansystolic murmur in the third and fourth intercostal spaces. A liver edge was 1 cm below the costal margin. EKG revealed right-axis deviation and marked preponderance of the R waves in the right precordial leads with diphasic T waves in those leads. He did well until October 23, 1961, when he was admitted with the chief com• plaint of fever and respiratory difficulty. On admission Twas 100.5°, and a liver edge was 4 em down from the right costal margin. He was obviously cyanotic. There was a blowing, high-pitched, seagull-type murmur heard throughout the systole along the left sternal border and a harsh systolic murmur heard loudest at the left fourth interspace. X rays showed cardiac enlargement. EKG revealed right-axis deviation and right ventricular hypertrophy. The pulmonary second sound in the left second interspace was not heard. The child was placed on digitalis but was felt to be too sick to undergo a right heart catheterization. Clinical impression was pulmonic stenosis. Exploratory thora• cotomy was carried out on October 27 and at that time an apparently overriding aorta and easily visible infundibular pulmonic stenosis were found supporting the diagnosis of tetralogy of Fallot. An anastomosis of the superior vena cava to the right pulmonary artery was performed, and during the evening of operation the child did very well. However, during the night he developed progressive edema of the head and arms, increasing cyanosis with tachycardia and later bradycardia with steadily diminishing systolic blood pressure. It was thought that the anastomosis had become obstructed, and, because of his rapidly deteriorating condition, repeat exploration was carried out the following morning. At that time no obstruction of the venous anastomosis could be found, although there was some torsion on the superior vena cava. The baby did not survive this procedure, and, indeed, the initial incision had to be accomplished rapidly because of cardiac arrest. Autopsy Diagnosis Tetralogy of Fallot; surgical anastomosis of superior vena cava and right pulmonary artery and myotomy of crista supraventricularis; subendocardial and subepicardial hemorrhages; pulmonary congestion; focal necrosis of myocardium. 226 Case Descriptions

Case 95 (AI6118, 33 years, 16 Dec 61)

Clinical History This 33-year-old white female was admitted to GNHCH for the last time on December 11, 1961, for open heart surgery. The patient stated that she had had a cardiac murmur ever since she could remember. The first documented instance of the murmur was at the age of 12. However, she was asymptomatic unit! 1958 when she began to have dyspnea on exertion, orthopnea, and edema. She also noted pain in her chest on exertion. Cyanosis or rheumatic fever was denied. In September, 1959, a therapeutic abortion was carried out because of increasing severity of cardiac symptoms during pregnancy. On PE then only slight peripheral edema was evident, and the liver edge was just at the costal margin. Her heart was noted to be enlarged 1 cm beyond the midclavicular line in the sixth interspace. The rhythm was irregular due to frequent premature beats. There was a Grade III, high-pitched, sys• tolic murmur along the left sternal border and at the apex. It was poorly transmitted to the neck but was transmitted to the axilla. In November, 1959. she was admitted for cardiac workup. X ray revealed increased pulmonary vasculature, enlargement of the left atrium and enlargement of the left ventricle. An EKG revealed left bundle branch block, premature ventricular contractions. and left ventricular hypertrophy. Right heart catheterization revealed no stepup in O 2 saturation, and normal pressures were found in the chambers of the right heart. She was seen again in December. 1960, at which time there was no venous distension, enlargement of the liver or signs of edema or pulmonary congestion. A prominent precordial heave with a systolic thrill and murmur were noted over. the anterior chest. BP was 120/60. A decrescendo diastolic murmur was present at the apex. A chest film revealed a prominent left atrium and also probable enlargement of the right and left ventricles. The lung fields were clear. Left heart catheterization was carried ou t on January 18, 1961. Aortic insu fficiency and stenosis were thought to be the predominant lesions. The intense insufficiency of the mitral valve was thought to be due to left ventricular strain. On May II, 1961, a mitral valvuloplasty was performed under cardio• pulmonary bypass. At the time of surgery the mitral valve leaflets and chordae tendinae appeared delicate, but the valve contained clefts and also appeared insuffi• cient. Sutures were placed in the clefts and along the commissures. Her postopera• tive course was complicated by an elevated BUN with a low sodium output in her urine. She also had auricular fibrillation with a rapid ventricular response. This responded to digitalis. The patient was admitted here on November 8, 1961, with refractory congestive heart failure. On lysine monohydrochloride she lost 18 Ib in 24 hr. Because of continued congestive failure it was decided to perform another open heart repair. She was admitted for the last time on December 11. PE included a BP of 120/60, P of 76, and R of 20. The neck veins were distended. A holosystolic murmur (Grade IV) was present at the apex and transmitted to the axilla. The PMI was in the sixth intercostal space 3 cm beyond the midclavicular line. There was an apical thrill. An early, short, Grade II diastolic murmur was at the apex. P2 was greater than A2• The Case Descriptions 227 liver edge was 3 FB below the costal margin. On December 15, while on total perfu• sion, a Starr-Edwards valve was inserted. The left ventricular myocardium was hypertrophied to such an extent that an incision was made to relieve the outflow tract stenosis. Perfusion lasted for 5 V2 hr. The patient was poor postoperatively and went into pulmonary edema. This responded to the usual measures. One day post• operatively, arterial pH was 7.1. Venous pressure was ISO. Her BP then fell despite adrenalin drip and cardiac arrest ensued. Massage was instituted and cardiac action improved. Arrest recurred twice, and the patient expired the day after the operative procedure.

Catheterization Studies 16 Nov 59 Pulmonary artery pressure, 40/15 mm Hg Right ventricular pressure, 38/3 mm Hg Right atrial pressure, 7/0 mm Hg 18 Jan 61 Left atrial pressure, 25/14 mm Hg (c-v) and 9 mm Hg (mean) Left ventricular pressure, 162/16 mm Hg Femoral artery pressure, 98/48 mm Hg

Autopsy Diagnosis Old, healed, sternum-splitting surgical incision, recent left anterolateral thora• cotomy and bilateral inguinal surgical inclusions; prosthetic mitral valve; marked hypertrophy of wall of aortic outflow tract; left ventricular hypertrophy; right ven• tricular hypertrophy; left atrial hypertrophy; pulmonary edema; bilateral pleural effusions; pericardial adhesions; central necrosis of liver; congestion of viscera; pig• ment in renal cortical tubules; accessory spleen.

Case 96 (AI6170, 2 months, 17 Jan 62)

Clinical History This 7-week-old white male was transferred to GNHCH at I month of age because of progressive cardiac failure and respiratory distress. PE on admission revealed a cyanotic child in respiratory distress. The PMI was located to the right of the midline. The rate was 134. A Grade III holosystolic murmur was heard best at the right sternal border. P2 was increased, and no diastolic murmur was evident. The liver edge was down 7 cm from the costal margin. EKG the day after admission showed marked Q waves in II, III, and A VF. In addition, the depression of S-T segments suggested the possibility of myocardial infarction. Angiocardiography on January 4, 1962, revealed dextroversion, a right• to-left shunt at the atrial level, dilated pulmonary arteries, probable patent ductus, a large mixing defect at the atrioventricular zone, and probably a single ventricle. About January 13 the child progressed into cyanosis, tachypnea, intermittent bradycardia, and peripheral edema. On January 14 the patient was subjected to thoracotomy where the patent ductus was ligated. This reduced the pulmonary artery pressure from 50 to 30 mm and reduced its diameter by one-third. Thus, no pulmonary artery banding was carried out. Postoperatively the child had difficulty in maintaining respirations. The respiratory difficulties increased, and on January 16 228 Case Descriptions the child was returned to the operating room for banding of the pulmonary artery. During the procedure the child expired.

Autopsy Diagnosis Common ventricular chamber (large interventricular septal defect); patent foramen ovale; subvalvular aortic stenosis; ligated ductus arteriosus; patent foramen ovale; subvalvular aortic stenosis; ligated ductus arteriosus; pulmonary edema.

Case 97 (AI6182, 2 months, 20 Jan 62)

Clinical History This 8-week-old white male was noted at the age of 4 days to have tachycardia, tachypnea, cyanosis, and hepatomegaly. X ray then showed cardiomegaly. He was digitalized, and 11f2 weeks later an EKG showed right ventricular hypertrophy. He proceeded to develop digitalis toxicity and was admitted here on January 4, 1962. PE revealed a P of 160, R of 80-100, and BP of 90/56. The child appeared cyanotic. Respirations were rapid and grunting. A soft, early systolic murmur was heard over the precordium. P2 was loud and split. The liver edge was 4 cm below the costal margin and nonpulsatile. The infant was mildly dehydrated. X rays revealed increased vascularity of the lung fields. There was some decrease in the femoral pulses. The child responded to digitalis therapy; however, at that time he also developed digitalis toxicity manifested by premature ventricular contractions (PVC) and nausea and occasional vomiting. On January 16 right heart catheterization was interpreted as a probable large left-to-right shunt at the ventricular level. A later report stated that the increase of oxygen was at the low atrial level which then led them to consider complete anomalous pulmonary venous return or hypoplastic left heart. Cineangiography suggested anomalous pulmonary venous return. On January 20 the patient became limp and unresponsive and expired.

Catheterization Studies 16 Jan 62 Right atrial pressure, 13 mm Hg (a) and 4 mm Hg (mean) Right ventricular pressure, 122/6 mm Hg Pulmonary artery pressure, 125/30 mm Hg (a) and 64 mm Hg (mean)

Autopsy Diagnosis Persistent ostium primum; patent ductus arteriosus; patent foramen ovale; dilated pulmonary artery; dilatation of right atrium; hypertrophy and dilatation of right ventricle; preductal coarctation of aorta; hepatomegaly; focal atelectasis of both lungs.

Case98 (AI6196, 2 days, 27 Jan 62)

Clinical History This infant was the product of a full-term, normal pregnancy in a 30-year old gravida 5, para 3 white female. The pregnancy was uneventful with the membranes Case Descriptions 229 rupturing 30 min prior to delivery. The baby did well for the first 24 hr of life. However, on January 26, it was noted that the baby was cyanotic when crying, and a loud systolic murmur was heard. There was also subcostal and intercostal retrac• tions with respirations. The liver edge was down 3 cm. Because of this, the baby was transferred to the premie unit although it weighted 5 lb 13 oz at birth. A chest film showed that the heart was borderline enlarged, but the lung fields showed no evi• dence of pneumonitis or infiltration. Hct was 65% and HB was 28. EKG was interpreted as within normal limits. The liver edge descended to 6 cm. The child was started on penicillin and strep• tomycin. Digitoxin gave no response. On the 2nd day of life the heart rate slowed and the child expired.

Autopsy Diagnosis Atresia of aortic valve with hypoplasia of left ventricle, left atrium and ascend• ing aorta; patent ductus arteriosus and patent foramen ovale; right ventricular hypertrophy; muscular hypertrophy of pulmonary arteries; right atrial and ven• tricular dilatation; pulmonary edema; congestion of viscera.

Case 99 (A16219, 5 1/2 months, 5 Feb 62)

Clinical History This was the fourth G NHCH admission of this 5 1/2-month-old white male who had an interventricular septal defect and a patent ductus which had been surgically ligated. Pregnancy of this gravida 7, abortus 4, para 3, white female was normal except for a urinary tract infection during the last several months. Delivery was by Caesarean section because of cephalopelvic disproportion. Significant family history includes the death of a younger sibling at 21/2 months in 1959 due to congenital heart disease (Case 46). The patient was referred to the clinic at 2 months of age because of a heart murmur. PE revealed perioral cyanosis with crying, cardiomegaly, a loud systolic murmur at the left border along with a thrill, P2 greater than A2, and liver enlarge• ment. EKG then showed both right and left ventricular enlargement as well as right ventricular hypertrophy. Fluoroscopy showed increased pulmonary blood flow and enlargement of both chambers of the right heart. Cardiac catheterization showed normal arterial oxygen saturation at rest. There was a stepup of oxygen saturation in the right ventricle and in the pulmonary artery. Estimated pulmonary blood flow was five times that of systemic flow. There was marked right ventricular and pulmonary artery hypertension. On this admission the ductus was ligated. Post• operatively the patient remained in failure. Recurrent episodes of upper respiratory tract infection continuously complicated his management and accounted for his ter• minal admission. PE was the same as before with the addition of rales in both lung fields. X ray showed an infiltrate in the right middle lobe and antibiotic therapy was started. Cul• tures revealed alpha streptococci. His condition improved for 8 or 9 days, but the last 3 days before death he spiked a temperature and was in marked respiratory 230 Case Descriptions distress. Despite massive doses of antibiotics during the last 3 days, he died on Feb• ruary5,1962.

Catheterization Studies 2 Nov 61 Right atrial pressure, 18 mm Hg (a) and 8 mm Hg (mean) Right ventricular pressure, 75-87/4-9 mm Hg Pulmonary artery pressure, 81-95/33-49 mm Hg Femoral artery pressure, 120-127/54-64 mm Hg

Autopsy Diagnosis Interventricular septal defect with slight overriding of aorta; scar over left thorax; persistent left superior vena cava; cardiac dilatation and hypertrophy; pneu• monia in right lung; fibrosis of liver; chronic passive congestion of spleen.

Case 100 (A 16220. I month, 6 Feb 62) Clinical History This 4-week-old infant was admitted on February I, 1962, for evaluation of congenital heart disease. He was the product of a normal pregnancy. PE at that time revealed a heart murmur and no cyanosis. At about \0 days of age the child had the onset of cyanosis and continued to feed poorly. PE here on admission revealed moderate cyanosis. The PMI was at the anterior axillary line. A moderate harsh systolic murmur was audible over the precordium. The liver edge was down from the costal margin 4lj2 cm. EKG showed right axis deviation (RAD), P waves at the upper limits of normal and left ventricular predominance. A small R wave over the right precordium and low amplitude of A VR suggested minimum potentials from the right ventricle. X rays showed a large heart with right auricular and left ventricular enlargement and increased pulmonary vascularity.

On February 5 when the child was removed from O2 for feeding he became apneic and expired.

Autopsy Diagnosis Bicuspid aortic valve; generalized cardiac dilatation; large patent ductus arteriosus; acute passive congestion of liver.

Case 101 (AI6222, I day, 6 Feb 62) Clinical History This 32-hour-old infant was admitted on the day of birth. She was noted to be cyanotic at birth in St. Vincent's Hospital. EKG showed right-axis deviation, R VH and R V strain. and large P waves (6 mm in Lead II), and chest film showed massive cardiomegaly. PE on admission showed marked cyanosis. A Grade II-III high-pitched blow was present at the apex. A to-and-fro murmur was present in the second LICS. A Case Descriptions 131 rough systolic murmur was present over the right anterior chest. The liver was 4 cm below the costal margin and pulsatile. Cineangiography showed obstruction to the RA and R V outflow with a normal aorta and left ventricle. The most likely lesion was thought to be pulmonary stenosis, and emergency surgery was undertaken. Pressure tracings at operation did not reveal pulmonic stenosis, and exploration of the right atrium did not reveal an Ebstein malformation. The child expired at the end of the procedure.

Autopsy Diagnosis Insufficiency of tricuspid valve due to short chordae tendinae; cardiac dilatation and hypertrophy of right heart; patent foramen ovale; patent ductus arteriosus; recent surgical incision in thorax, collapse of lungs bilaterally.

Case 102 (AI6237, I year, 17 Feb 62)

Clinical History This 14-month-old Negro male was noted to have a cardiac murmur on the initial newborn exam. He was followed in clinic and exhibited the characteristic find• ings of tetralogy of Fallot. These included cyanosis, clubbing of the extremities, an ejection murmur, and diminished P2• EKG showed right-axis deviation, right ven• tricular hypertrophy, and right atrial enlargement. X rays revealed decreased pulmonary vascular markings, right ventricular enlargement and slight prominence of the aorta. The patient was treated with oral iron and had been polycythemic with a hemoglobin ranging between 18 and 20 g/IOO ml. The patient's length and weight had always been within the 50th percentile. The patient had his first hypoxic episode I week prior to admission with another episode 2-3 days later. These spells were characterized by rapid deep respirations, increased cyanosis and restlessness. The patient would become limp but not unconscious for approximately 20 min. During these episodes, the cardiac murmur was not audible. On February 12, 1962, the patient was admitted for angiocardiography. PE on admission revealed a T of 100°, P of 120, and R of 28. The patient was moderately cyanotic at rest and showed clubbing of the fingers and toes. A Grade II-III harsh ejection, systolic murmur was audible throughout the precordium and transmitted to the neck, axilla, and back with maximum intensity at the third left intercostal space. No thrill was noted. The pulmonic component of the second sound was faint. The liver edge was at the right costal margin. On the second hospital day the patient underwent right heart catheterization and angiography. Pressure tracings revealed an elevated right ventricular pressure with a systolic of 95-111 mm. Hg over a diastolic of - 13 to 13 mm Hg. A left-to-right shunt at the ventricular level was indicated by a significant stepup in the O2 saturation from the right atrium to the right ventricle. A right-to-left shunt of such magnitude that 70% of systemic venous return bypassed the lungs was indicated by a femoral oxygen saturation of 55%. Angiocardiography revealed a large hypertrophied right ventricle with immediate flow into a dilated large aorta. The outflow tract of the right ventricle into the pulmonary vessels was not identified with certainty. On February 16 the patient was operated on and a Potts-Smith procedure was 232 Case Descriptions completed. This consisted of a side-to-side anastomosis of the left pulmonary artery to the aorta. Postoperatively the child was markedly dyspneic and cyanotic and within the next half hour went into cardiac failure. This was characterized by pulmonary edema and the liver edge descending below the costal margin. The child was digitalized and returned to the operating room where reexploration was carried out. Although cardiac massage was started, it was noted that the heart was flaccid, and a clamp was placed across the anastomosis. Further resuscitative measures were of no avail, and the child was pronounced dead at 3:30 p.m. on February 16.

Catheterization Studies 13 Feb 62 Right ventricular pressure, 95-111/0-13 mm Hg

Autopsy Diagnosis Origin of aorta and pulmonary artery from the right ventricle; interventricular septal defect (membranous); pulmonic stenosis (infundibular and valvular); bicuspid and pulmonic valve and right ventricular hypertrophy; side-to-side anastomosis of the left pulmonary artery to aorta; dilatation of ventricular chambers; marked pulmonary congestion and edema; passive congestion of viscera.

Case 103 (A16314,4 months, 22 Mar 62) Clinical History This 4-month-old, white female entered GNHCH for the first time on March I, 1962, for evaluation of congenital heart disease. The patient was the product of a full-term pregnancy. Cyanosis was noted at birth which increased with crying and activity. Growth and development remained poor. At the age of 3 weeks the patient was hospitalized at Stamford Hospital for lethargy and tachypnea and I week later for fever. During these admissions X rays showed cardiomegaly, and EKG had a questionable "P" pulmonale. PE on admission here revealed a slightly cyanotic infant with increase of the cyanosis on crying. Length and weight were in the 25th and 3rd percentile, respec• tively. The heart was enlarged to percussion. PMI was along the left sternal border. A low-pitched, early systolic murmur was heard along the left sternal border. The second sound was loudest in the left second interspace. The liver edge was down 3 cm from the right costal margin. The patient was digitalized. An EKG showed R VH and possibly L VH. P waves were at the upper limits of normal. Femoral arterial O2 saturation on room air was 56%. An angiogram was performed on March 7 revealing the presence of transposi• tion of the great vessels with the absence of a right-to-left shunt at the atrial level and no evidence of a ductus. There was the suggestion of a ventricular septal defect. Admission X rays showed increased pulmonary vascular markings and left-sided configuration of the heart. This made truncus or transposition the most likely diag• nosis. On March 22 the patient was explored and a SVC-RPA and Blalock-Hanlon procedure were carried out. Postoperatively the patient did well for 4 hr. Then Case Descriptions 233 lethargy occurred and respirations slowed. Cyanosis of the face and upper extrem• ities appeared despite endotracheal respiration. The patient expired 5 V2 hr post• operatively.

Autopsy Diagnosis Transposition of great vessels; interventricular septal defect with overriding of pulmonary artery; patent ductus arteriosus; anastomosis (patent) of superior vena cava to right pulmonary artery; surgical absence of superior portion of interatrial septum; cerebral congestion and edema.

Case 104 (A16376, 19 years, 26 Apr 62)

Clinical History This 19-year-old male was noted to have a heart murmur at birth. However, he did well during early childhood. At 5 years of age a chest film revealed an enlarged heart. At this time he started to exhibit intolerance to exercise and slight cyanosis on exertion. He was admitted here in May, 1954, for diagnostic studies. He then was a tall, well-developed boy. The nailbeds were a deep pink. The LBCD was lateral of the left nipple and a systolic thrill was present along the left sternal border. Blood pressures were within normal limits. A Grade III, harsh, blowing systolic murmur was heard all over the precordium, but was loudest in the third to fourth LICS. P2 was faint along with A2• A third heart sound was heard near the apex between the systolic murmur and mitral second sounds. The remainder of the PE revealed normal findings. EKG at that time revealed right-axis deviation, an increase in interventricular conduction time and incomplete right bundle branch block. Fluoroscopy revealed prominence of the pulmonary conus, slightly diminished pulmonary vascular mark• ings, and right ventricular enlargement. Further studies were performed in January, 1955. X rays revealed a globular heart with right atrial and ventricular enlargement. EKG showed right-axis deviation and marked prolongation of the Q-R-S intervals compatible with right bundle branch block. O2 saturation at rest was 87 percent to 83% exercise. Angiography revealed a dilated right atrium and normal-size right ventricle and persistence of fill• ing of the right heart and pulmonary arteries. A moderate polycythemia was present with a Hb of 16. The clinical course remained stable until February, 1960. Following a throat infection, fever recurred and a blood culture grew out Streptococcus viridans. PE was essentially unchanged and following 8 days of therapy he was discharged. Anti• biotics were continued for the next 2 weeks. He was next admitted in September, 1961, for cardiac catheterization. Femoral O2 saturations at this time were normal at rest. By now the findings were considered consistent with Ebstein malformation. At home the patient continued his usual activities and on April 25, 1962. was found dead in his room. 234 Case Descriptions

Catheterization Studies 21 Sep 61 Right atrial pressure, 9 mm Hg (a) and 8 mm Hg (mean) Right ventricular pressure, 26-30/9-14 mm Hg Pulmonary artery pressure, 26-27/9-12 mm Hg

Autopsy Diagnosis Ebstein malformation of the heart; patent foramen ovale; high interventricular septal defect; focal endocardial thickening around interventricular septal defect; dila• tation of the right atrium, right ventricle, and left ventricle; pulmonary edema; congestion of viscera.

Case 105 (AI641O, 6 years, 18 May 62) Clinical History This 6-year-old male was first noted to have a heart murmur at the age of 2 months. Some cyanosis on exertion was then noted. The patient was followed in the Cardiac Clinic. A Grade III-IV harsh systolic murmur was always audible. Easy fatigue, dyspnea on exertion, and squatting ensued. On November II, 1961, the patient was admitted for cardiac catheterization. The findings were consistent with tetralogy of Fallot, and the child was then admitted here on May 8, 1962, for open heart repair. PE on admission revealed a BP of 100/80, P of 72, and R of 16. A pansystolic murmur was heard over the chest and back. It was maximally audible over the left sternal border. A2 was greater than P2• No cyanosis or clubbing was present, and the remainder of the PE was within normal limits. Open heart surgery was carried out on May 15, 1962. Two defects were noted in the with the lung herniating through on the right side. The right ventricle was opened and the hypertrophied infundibulum was resected. The IVSD was next repaired and the chest was closed. Postoperatively the patient was in renal shutdown, and his blood pressure could only be maintained with the use of vasopressors. He expired 2 days after the opera• tive procedure. Lab data during the postoperative period included a BUN rising from 38 to 93, a CO2 of 17.4, CI of 89, Na of 136, and K of 5.7.

Catheterization Studies 21 Oct 61 Right atrial pressure, 9 mm Hg (a) and 5 mm Hg (mean) Right ventricular pressure, 95-99/7-9 mm Hg

Autopsy Diagnosis Right ventricular hypertrophy, infundibular stenosis, bicuspid pulmonic valve, hypoplasia of pulmonary artery, interventricular septal defect (tetralogy of Fallot); interruption in the continuity of accessory (conus) branch of right coronary artery; myocardial necrosis of right ventricular wall near apex; recent tracheostomy wound; defect in pericardial sac, right side, with herniation of lung parenchyma. Case Descriptions 235

Case 106 (AI6417, 18 days, 24 May 62)

Clinical History This 18-day-old Negro female was taken to the ER on May 22, 1962, and pronounced dead on arrival. The mother related that the child was well and afebrile and had been given a 2-oz bottle of water and then placed in her crib to sleep. Ten minutes later the child was discovered to be cold and not breathing. This infant had been born at GNHCH on May 4 with a birth weight of 5 Ib 1 oz. No abnormalities were noted during the child's brief stay in the hospital.

Autopsy Diagnosis Common ventricle; atresia of the mitral valve; hypoplastic left atrium; persistent left superior vena cava; marked dilatation of right atrium; patent ductus arteriosus; infantile coarctation of the aorta; congestion of viscera; accessory spleens.

Case 107 (AI6432, 8 months, 2 Jun 62) Clinical History This 8-month white female was admitted on April 23, 1962, because of increas• ing congestive heart failure. At 2 weeks of age a gallop rhythm was noted, and at 4 weeks a grade II systolic murmur was heard. At 2 months of age she was worked up in the Cardiac Clinic with the following results: R were 60, P was 170, and PE revealed a Grade III systolic murmur along with a thrill over the precordium. The liver edge was 3 cm down. EKG revealed RBBB, RVH, L VH, and sinus tachycardia. X rays showed increased pulmonary vascular markings along with enlargement of both ventricles and the left atrium. PE on this admission was essentially unchanged except the liver edge was now 5 cm below the costal margin. The child was digitalized. On May 3, cardiac catheriza• tion was carried out along with angiography. The results were interpreted as showing a left-to-right shunt at the atrial level, decreased systemic flow with the pulmonary blood flow being five-and-a-half times the systemic flow, and 15% of the systemic venous return bypassing the lungs. The pulmonary arterial pressure was elevated. A brachial flush angiogram on May 14 did not demonstrate a ductus arteriosus. Band• ing of the pulmonary artery was considered to be of benefit so such a procedure was carried out on May 21. Postoperatively the child did well until the 5th postoperative day when she spiked a temperature of 103°. X ray showed a right middle lobe pneu• monitis. She continued to have persistence of the fever with some increase in left lower lobe infiltrate and finally expired on June 1.

Catheterization Studies 3 May 62 Right atrial pressure, 17 mm Hg (a) and 8 mm Hg (mean) Right ventricular pressure, 90-100/2-10 mm Hg Left atrial pressure, 16 mm Hg (a) and 8 mm Hg (mean) 236 Case Descriptions

Case 108 (AI6436, 5 months, 5 Jun 62)

Clinical History This 5-month-old infant was admitted on May 21, 1962, to GNHCH from the Cardiac Clinic because of increasing cardiac failure. Cyanosis and failure was noted in the newborn period and his first admission was at the age of 17 days. Venous angiogram demonstrated the presence of tricuspid atresia with transposition of the great vessels. In addition, the descending aorta appeared narrower than the ascend• ing aorta, raising the question of hypoplasia or coarctation of the descending aorta. The initial cardiac failure was well controlled with digoxin. During the 6-8 weeks prior to admission the failure increased, with the liver edge descending 6 cm below the costal margin. PE on admission revealed a P of 120, R of 80. Occasional rales were present at both lung bases. A grade IV harsh, pan systolic murmur was heard best along the left sternal border at the fourth ICS and radiated to the axilla and poorly to the neck and back. P2 was loud and split. There was a strong thrust over the entire pre• cordium and the PMI was at the midclavicular line. The liver edge was 6 cm below the costal margin. A spleen tip could also be palpated. Admission lab data were within normal limits. On the 2nd hospital day the child developed a questionable right lower lobe pneumonia with a fever and lung infiltrates. However, the increased pulmonary vascular markings obscured a definite interpretation of the chest film. Four days of antibiotic therapy showed marked improvement. The patient was then prepared for pulmonary artery banding which took place on June 3, 1962. Postoperatively the patient developed left-sided atelectasis and anuria. He became more cyanotic and respirations were labored. Vasopressors were instituted. Urine (60 ml) was obtained 14 hr postoperatively. Since the left ventricular resistance was considered to be increased following the banding, increasing the failure, 10 ml of blood were withdrawn. The blood pressure continued to drop despite vasopressors, and asystole followed.

Autopsy Diagnosis Tricuspid atresia; patent foramen ovale; transposition of the great vessels; interventricular septal defect; patent ductus arteriosus; coarctation (small) of aorta; marked dilatation of pulmonary artery; left ventricular hypertrophy; Teflon band on pulmonary artery; bloody mucus in trachea; pulmonary congestion and edema; congestion of viscera.

Case 109 (A 16444, 17 years, 9 Jun 62)

Clinical History This 17-year-old male was noted to have a systolic murmur at about 3 years of age. He had very little specific difficulty from this murmur; however, in his early life he had frequent colds and epistasis. He was never in failure or cyanosis. When seen here in 1948 there was no clinical enlargement of the heart, but there was a harsh Grade III systolic murmur at the base with a snapping pulmonic second sound and a Case Descriptions 237 marked thrill along the left sternal border. EKG showed a right-axis deviation and right ventricular hypertrophy. Pulsations of the pulmonary vessels were noted on fluoroscopy. Slight cyanosis was present on exercise. In November, 1959, cardiac catheterization was performed. His pulmonary blood flow was 3.3 times systemic flow with a high PA pressure. In view of this he was slated for closure of the VSD. The repair of the defect took place on November II, 1960. A lung biopsy at that time showed focal fibrosis and atypical proliferation of the bronchial epithe• lium. He was discharged I month after the operation. In January 1961, the patient reappeared with a systolic murmur along the left sternal border. This was thought to be functional. The patient was readmitted on July I with a 3-day history of left leg pain. The diagnosis of thrombophlebitis was established, and he was heparinized and discharged uneventfully I week later. The patient was readmitted on August 25 with fever and splenomegaly. On admission his temperature was 101.4°. The spleen was down 3 cm from the costal margin, and the WBC was 13,000. There was no other clinical evidence of embolic phenomenon or subacute bacterial endocarditis (SBE), and he was discharged I week later. In December, 1961 the patient was admitted because of left chest pain. This radiated to the left shoulder. Fourteen blood cultures were taken and two grew out a micrococcus. The clinical impression was repeated pulmonary emboli. X ray revealed a left costophrenic density which cleared in I week. Two weeks later he was readmitted with left pleuritic chest pain and shaking chills. His WBC was now 14,000. Some blunting was noted in the left costophrenic region on X ray. He was again anticoagulated. The patient was admitted to the hospital for the last time on June 5, 1962. Shoulder and midepigastric pain had persisted for several days prior to admission. PE revealed a T of 101, R of 18, BP of 110/75, and P of 100. A Grade IV systolic murmur was noted over the left sternal border. The liver and spleen were both pal• pable. The WBC was 16,000, BUN was 17, and prothrombin time was 20%. The patient was still on anticoagulation. The chest film was unremarkable. EKG showed slightly elevated ST segments in V3 and V4. A RBBB was also present. The SGOT was 485 and later rose to 1250. This was thought to be due to , hepatic congestion, and pressor agents. No urine output occurred on this day. The patient had a sudden episode of severe back pain and expired on June 9.

Catheterization Studies 2 Nov 59 Right atrial pressure, 6/3 mm Hg Right ventricular pressure, 100/5 mm Hg Right pulmonary artery pressure, 93-100/47-50 mm Hg Femoral artery pressure, 102/68 mm Hg

Autopsy Disgnosis Subacute bacterial endocarditis on incompletely closed high interventricular septal defect and mouth of right coronary artery; septic occlusion of right coronary 238 Case Descriptions artery; infarct of posterior wall of hypertrophied right ventricle; multiple small pulmonary emboli; healed infarcts of spleen and right kidney; congestion of viscera.

Case 110 (AI6459, I year, 20 Jun 62) Clinical History This I-year-old white female entered for the third time on June 20, 1962 with a fever of 2-day duration. Eleven days prior to admission, the patient was vaccinated with a good take; 8 days later she had a fever of 101. The fever continued, and on the morning of admission her temperature was 104. Shortly after birth the child appeared pale. She developed poorly, and several weeks later the pulmonic second sound was noted to be loud and booming. A Grade II pan systolic murmur was present and loudest over the lower left sternal border. The faint second sound was followed by an early faint diastolic murmur. The liver edge at this time was 2.5 cm. below the costal margin. The peripheral pulses were weak in the lower extremities. Fluoroscopy was suggestive of a left-to-right shunt with left atrial enlargement. Retrograde aortography was compatible with coarcta• tion of the aorta associated with narrowed segment of the arch and a localized marked narrowing distal to the left subclavian artery. A patent ductus was not thought to be present. Intravenous angiography suggested a transposition of the great vessels with associated IVSD. The pulmonary vasculature was considered to be increased. On August 12, 1961, the patient had banding of the pulmonary artery. The aorta was at the right base of the heart and was half the size of the pulmonary artery. The PA pressure at operation was 80/25 while the RV pressure was 90/45. After band• ing, the PA pressure was 50/35, and the external diameter was reduced from 12.5 to 7 mm. Postoperatively the child did well and continued well until the time of the present illness. PE on admission included the T of 104, P of 200, and R of 64. The fundi showed some blurring of the disks. Subcostal and intercostal retractions were present. The liver edge was 0.5 cm below the costal margin. The deep tendon reflexes were hyperactive. Chest X ray revealed cardiomegaly without evidence of pneumonia. The patient's vital signs remained stable over the next 2 hr. At that time the child became apneic and expired.

Catheterization Studies 12 Aug 61 Right ventricular pressure, 90/45 mm Hg Pulmonary artery pressure, 80/25 mm Hg

Autopsy Diagnosis Complete transposition of the great vessels; coarctation of aorta; large left ven• tricular chamber with small interventricular septal defect; rudimentary right ventricle; patent foramen ovale; marked congestion of cerebral vessels. Case Descriptions 239

Case 111 (AI6465, 6 years, 21 Jun 62)

Clinical History This 6-year-old male was first noted to have a heart murmur at the age of 5 days, Some cyanosis about the mouth was also present. PE during his early child• hood revealed a harsh, Grade II high-pitched systolic murmur heard best over the precordium and along the left sternal border. He slowly developed clubbing and cyanosis of the fingers and toes. Chest films showed a minimal increase in cardiac size, decreased pulmonary markings, and decreased prominence of the pulmonary artery. EKG revealed right-axis deviation and R VH. The findings were considered compatible with tetralogy of Fallot. After the occurrence of dyspnea, squatting, and polycythemia, a left Blalock procedure was carried out on October 20, 1958. Postoperatively the patient showed satisfactory symptomatic improvement. After a 11i2-year period squatting and cyanosis recurred. The shunt murmur decreased in intensity. Polycythemia increased to a Hct of 65. In October, 1961, cardiac catheterization was carried out, but it was not possible to enter the right ventricle. Ear oximetry indicated that 65% of the systemic venous return bypassed the lungs. Angiography showed early opacification of the aorta and marked infundibular stenosis. In view of these findings he was admitted on June 12, 1962. for open heart repair. PE on admission showed a BP of 120/90 and a markedly cyanotic young male. The remaining findings were as before with disappearance of the shunt murmur. A chest film revealed rib notching on the left, poor pulmonary vascularity, and right ven• tricular prominence. The Hct was now 69. Open heart repair was carried out on June 19. No thrill was palpable in the previous shunt. The valvular and infundibular stenosis was resected, and later the IVSD was closed with a Teflon patch. Postopera• tively the child was unresponsive, and his blood pressure slowly declined. Vasopressors were instituted, but the blood pressure continued to fall, and 14 hr after the operation the child expired.

Catheterizationn Studies 31 Oct 61 Right atrial pressure, 6 mm Hg (a) and 3 mm Hg (mean)

Autopsy Diagnosis Tetralogy of Fallot; focal atelectasis and pulmonary edema; cerebral edema; congestion of viscera.

Case 112 (AI6476, 14 years, 25 Jun 62)

Clinical History This 14 1/2-year-old girl was first noted to have a heart murmur at 6 weeks of age. She was seen here for the first time in 1955 with complaints of fatigue and occa• sional cyanosis. Cardiac catheterization in 1956 showed minimal unsaturation in the

systemic arteries. There was a significant increase in O2 saturation in the RV. The pressures in the P A and R V were at systemic levels. The conclusion was an IVSD 240 Case Descriptions with pulmonary hypertension. PE throughout the years demonstrated cardiomegaly, a moderate thrill and a harsh, loud, pansystolic murmur at the left sternal border. P2 was split. On February 2, 1962, repeat catheterization showed the systemic desatura• tion and the increase in O 2 saturation in the R V and now in the P A. Pulmonary blood flow was three-and-a-half times systemic blood flow. Pressures on the right side were at systemic levels. The catheter entered the patent ductus and then into the aorta. Angiography at that time showed a bidirectional shunt. The patient was admitted on June 22 for repair of the PDA. During the procedure on June 25 the ductus tore, and the patient expired despite administration of large quantities of blood. Catheterization Studies 2 Feb 62 Right atrial pressure, 7 mm Hg (a) and 2 mm Hg (mean) Right ventricular pressure (inflow tract), 132/2 mm Hg Right ventricular pressure (outflow tract), 120/2 mm Hg Pulmonary artery pressure, 120/65 mm Hg Aorta pressure, 139/74 mm Hg 26 Jan 56 Right atrial pressure, 15 mm Hg (a) and 10 mm Hg (mean) Right ventricular pressure, 106/3 mm Hg Pulmonary artery pressure, 113-116/62-64 mm Hg Autopsy Diagnosis Large interventricular septal defect; recently ligated ductus arteriosus; right and left cardiac hypertrophy; recent left thoracotomy.

Case 113 (AI6489, 46 years, 30 Jun 62) Clinical History Pregnancy was uneventful, and the child was diagnosed as mongoloid soon after birth. The early development was delayed. However, she was managed at home quite well. At about 8 years of age she developed episodes of cyanosis of lips and nail beds. This had gradually become more marked. A diagnosis of congenital heart disease was made, and she was admitted frequently to her local hospital for treat• ment, including phlebotomy because of polycythemia. When it became difficult for the mother to handle the patient at home, she was admitted to Southbury Training School on April 9, 1962. PE showed a typical elderly mongoloid. There was a mature cataract on the left which was considered nonoperable. A cataract was removed on the right side and she had reasonable vision with lenses. The heart was enlarged. The pulmonic second sound was louder and more snapping than the aortic second sound. There was a loud systolic murmur heard over the left sternal border and best over the fourth inter• space in this area. The liver and spleen were palpable. There was a questionable clubbing of fingers and toes and some cyanosis of lips and nailbeds. There was also minimal edema of the legs. Lab findings indicated the presence of diabetes. Her course was characterized by episodes of acute syncope every 2-3 weeks. Her Hb was 18 g/100 ml. She expired in marked congestive failure on June 30, 1962. Case Descriptions 241

Autopsy Diagnosis Interventricular septal defect (membranous); left and right ventricular hypertrophy; pulmonary arteriosclerosis; recurrent pulmonary emboli; right heart dilatation; marked congestion of viscera.

Case 114 (A 16524, 24 years, 18 J ul 62) Clinical History This 24-year-old mongoloid youth was admitted to the ER on July 9, 1962, because of coughing and hemoptysis. His congenital heart disease was first noted in 1946. At that time he was admitted with croup and fever. PE showed cardiomegaly and a loud, precordial systolic murmur. Increased pulmonary vascular markings were present on X ray. A loud pulmonic second sound was present. An ASD was thought to be present. He was then discharged and was admitted here at the age of 14 (1952) because of dyspnea and cyanosis. He was later discharged to Southbury Training School. On his last admission PE revealed mongoloid facies with a BP of 110/40, P of 120, and R of 22. Twas 102°. Rales were present over the left lower lobe. A Grade III pansystolic murmur was heard best at the left sternal border. Cyanosis and club• bing of the fingers were present. X ray revealed increased pulmonary vascular mark• ings and cardiomegaly. Sputum cultures grew out pneumococci. He was started on penicillin and digitoxin. Blood cultures were negative. He remained febrile and on July 16 developed right upper quadrant tenderness with a splinter hemorrhage on the finger. Furunculosis was also present. Blood cultures grew out gram-positive micrococci and diplococci. Respiratory distress increased, and a left flaccid hemiplegia appeared shortly before the patient's demise on July 17.

Autopsy Diagnosis Mongoloid facies; interventricular septal defect; fibrinous vegetation on both cusps of mitral valve facing septal defect; focal pneumonia; chronic passive conges• tion and emphysema of lungs; multiple pulmonary emboli; severe acute passive congestion of liver; focal ischemia myocardial change.

Case 115 (A 16556, 3l!2 years, 4 Aug 62) Autopsy Diagnosis Dextroposition of aorta, interventricular septal defect, agenesis of pulmonic valve cusps with valvular stenosis and poststenotic dilatation of pulmonary artery and right ventricular hypertrophy (tetralogy of Fallot); chronic broncholitis with focal interstitial pneumonia.

Case 116 (AI6952, 7 months, I Feb 63)

Autopsy Diagnosis Anomalous drainage of pulmonary veins; tortuosity and focal thickening of pulmonary arteries and arterioles; hypertrophy of right ventricle; hypoplastic left 242 Case Descriptions ventricle; congestion of lungs and viscera; double spleen; fresh cerebellar subarach• noid hemorrhage.

Case 117 (A17036, 6 months, 12 Mar 63) Autopsy Diagnosis Anomalous left coronary artery arising from pulmonary artery; left ventricular hypertrophy and dilatation; focal myocardial necrosis and fibrosis; small patent ductus arteriosus; congestion of lungs.

Case 118 (AI7691, 5 years, 3 Jan 64)

Autopsy Diagnosis Mongoloid facies; persistent complete ostium atrioventricularis communis; interventricular septal defect; right ventricular and atrial hypertrophy; left ven• tricular hypertrophy; dilatation of right ventricle and atrium; dilatation of left ventricle; congestion of lungs and viscera; pulmonary edema; massive fresh cerebral infarct of right hemisphere; old incomplete infarct in left parietal and temporal lobes.

Case 119 (Al7712,6days, 13 Jan 64) Autopsy Diagnosis Aortic and mitral atresia hypoplastic left ventricle; dilatation of patent ductus arteriosus; patent foramen ovale; hypertrophied right ventricle; single anomalous coronary artery arising from pulmonary artery; passive congestion of viscera; acute tubular necrosis of kidneys associated with aberrant uric acid.

Case 120 (AI7887, 14 days, 3 Apr 64) Autopsy Diagnosis Total anomalous pulmonary venous drainage into portal vein; hypoplasia of left atrium and left ventricle; patent foramen ovale; congestion of viscera; pronounced ductal hyperplasia of breast; mild fatty change in liver.

Case 121 (HHL-I, 7 years)

Clinical History Immediately following birth and on a few occasions during the 1st year, there were episodes of cyanosis. A physician noted a cardiac at 1 month of age and found, by fluoroscopy, the heart to be shifted to the right. In early childhood there were two bouts of pneumonia preceded and followed by chronic upper respiratory infection with cough productive of thick sputum. When exercising heavily during relatively well periods, the patient was noted to have a thin, pale blue line about the lips and to be mildly dyspneic. Case Descriptions 243

The child was first admitted to the Columbia-Presbyterian Medical Center at the age of 4 years, in 1947. He was noted to be retarded physically and to have a congenital coloboma of the left eye and a loud precordial systolic murmur, best heard over the left third interspace. A roentgenogram of the chest was considered consistent with atelectasis of the right middle lobe and a shift of the heart to the right. At fluoroscopy, there was marked pulsation of the right heart border. An esophagram was read as negative, but a bronchogram showed a right lower lobe bronchiectatic cavity. There was a right-axis deviation in the electrocardiogram.

Cardiac catheterization demonstrated higher than usual O 2 values in the right heart and hypertension in the right heart and pulmonary artery. These observations, taken together with the murmur, were considered to indicate the presence of an interven• tricular septal defect. An oblique right apical shadow seen in anteroposterior chest films was interpreted as thickened pleura between upper and lower lobes. Frequent upper respiratory infections and one bout of pneumonia occurred between 1947 and 1950. The question of hypoplasia of the right lung was raised. It was decided to admit the patient for resection of the lobe containing the bilobate cystic structure seen on the bronchogram, which was considered to be the source of recurrent suppuration. Accordingly, he was readmitted in January, 1950. Physical and laboratory find• ings were as before. At thoracotomy on February 2, 1950, filmy adhesions were encountered in the right hemithorax. An azygos lobe and another single large lobe were found. When the pleural membrane confining the azygos lobe was divided and the lower large single lobe retracted, a large anomalous pulmonary artery was encountered coming into the right hemithorax at the usual level, but looping over the right main bronchus, which therefore was hyparterial. No pulmonary veins were present in the usual sites except for a small vein that drained the azygos lobe into the left atrium. However, one vein 1.5 cm in diameter, another I cm in diameter, and two much smaller veins were noted leaving the anteromedial pleural surface of the large lobe near the diaphragm to empty into the inferior vena cava, 4-5 cm below the right atrium. At this point in the exploration the patient became apneic and con• vulsive, and the procedure was terminated without further surgery. On February 21, 1950, Diodrast was injected. The first film showed filling of the superior vena cava and of a portion of the right atrium. A paramediastinallinear shadow in the left side of the thorax was thought to represent an accessory hemizygos vein or a persistent left superior vena cava. Following filling of the right atrium, the 1.5-sec films showed the filling of the right ventricle as well. On the \.5- sec film, a large outflow tract, presumably pulmonary artery, was visible with its most cephalic portion at the level of the third thoracic vertebra, just to the left of the midline. A normal left pulmonary artery was seen with normal distribution of its vessels. There was a large shadow, considered to represent a greatly dilated right pulmonary artery taking origin from the main pulmonary artery. A conspicuous fea• ture of the remainder of the examination was the persistence of filling of the pulmonary vessels. The large anomalous veins seen at the first operation were not discerned as such. The findings were considered to support the roentgen diagnosis of a greatly enlarged right pulmonary artery and interventricular septal defect. The 244 Case Descriptions question of was raised and a second exploration was decided upon. Through the old incision the right lung was again exposed and a thrill was noted in the largest of the veins that drained the lung and entered the vena cava. It was thought that either an arteriovenous fistula or simply rapid flow from high- to low• pressure areas could produce the thrill. The "cystic" zones could not be felt through the lung substance. Because of the anomalous venous drainage of the lung proper, and, because of the small size of the azygos lobe, total right pneumonectomy was carried out. It was necessary to tie and cut several small arteries that passed from the aorta directly into the base of the lung.

Surgical Diagnosis Interventricular septal defect; anomalous pulmonary venous drainage of the right lung into inferior vena cava; azygos lobe with venous drainage into left atrium; bronchiectasis, right lower lobe.

Case 122 (HHL-2, 7 years)

Clinical History This girl was born on March 16, 1948, after an uneventful gestation. The neo• natal period was not remarkable, but toward the end of the 3rd month she was admitted to a hospital because of episodes of crying and coughing, accompanied by cyanosis of the head and neck. Extensive diagnostic studies were not carried out at this time. At the age of 6 months it was found, upon her readmission to the hospital, that the trachea and mediastinum were deviated to the right. The breath sounds over the right lung were diminished. The heart was thought to be shifted to the right in conse• quence of the pulmonary difficulty and to be devoid of intrinsic pathology. The elec• trocardiogram gave evidence of dextroposition of the heart. The condition was interpreted as hypoplasia of the right lung, possibly with agenesis of the upper lobe. During the preceding 3 months, she had had recurrent episodes of upper respiratory infections with fever. After this admission the child seemed improved but remained underweight and continued to have frequent upper respiratory infections. In January, 1954, she was admitted to the New Haven Hospital for further study of the dextroposition of the heart. A t this time, vocal fremitus was increased over the right lower chest, but no rales were heard. The heart was found to be shifted markedly to the right by physical examination and fluoroscopy. Upon review of the chest films, a tapering shadow, apparently venous, was seen extending into the right lung field obliquely upward outward from the region of the inferior vena cava. The point of maximal cardiac impulse was in the right second intercostal space in the midc1avicular line. The blood pressure in the arms was 80/50 and in the legs 100/55. A soft systolic murmur was heard in the precordial region. The patient was readmitted on June 27, 1955, for consideration of surgical therapy. At this time, the physical findings were the same as those of the previous admission. Bronchography was performed on July 8, 1955. The left lung appeared normal. It was thought that the right main bronchus was rather long. Actually, it Case Descriptions 245 was subsequently shown by anatomic study to be symmetrical with the left. No upper lobe bronchus was identified, and it was thought that there were "no bronchi in the anterior half of the chest on the right." The pulmonary artery was not discerned. It was thought at this time that there was partial hypoplasia of the right lung, with probable hypoplasia of the right pulmonary artery and abnormal venous return from the right lung. Angiography was undertaken on July 13, 1955. Moderate enlargement of the right atrium and right ventricle was noted. Branches of the left pulmonary artery in the left lung appeared to be normally distributed. The right pulmonary artery was visualized. but it appeared to be small. The left pulmonary veins emptied into the left atrium, but on the right side all pulmonary veins were collected into a large venous channel that was thought to empty into the vena cava or right atrium. At 1.2 sec, the smaller size of the right pulmonary artery was in sharp contrast with the large trunk and left branch. The pulmonary veins of both sides first became opacified at 2.8 sec and were sharply outlined at 3.5 sec. The course of the anomalous right pulmonary vein was demonstrated with great clarity. At 4.2 sec the aortic arch first became radioopaque. A large artery was seen to ascend from the aorta to the base of the lung at 6.3 sec. Even at 13.2 sec there was still some opacification of the right cardiac chambers, evidence of the long persistence of recirculation. A right thoractomy was performed on July 19, 1955, in the hope that a surgical anastomosis of the anomalous venous channel to the left atrium might be possible. This, however, proved not to be the case. Five large arteries were found to proceed from the aorta into the substance of the right lung at various levels. A bronchial artery also was found along the right main bronchus. The pleural cavity on the right side was obliterated by adhesions. A pneumonectomy was performed.

Surgical Diagnosis Anomalous pulmonary venous drainage of right lung into inferior vena cava; accessory pulmonary arteries to right lung.

Case 123 (HHL-3. 5 months. 16 Dec 55)

Clinical History This girl was admitted to Babies Hospital on August 24, 1955, when 6 weeks old, for wheezing since the age of 2 weeks. At that time, the parents noted slight wheezing, particularly when the patient was lying on her abdomen. About 2 weeks later, a slight cough developed in the morning. She was taken to a pediatrician who, upon radiographic examination, noted "right upper lobe atelectasis." There was no cyanosis or retraction, and the cough and wheezing remained essentially unchanged. On admission, physical examination revealed an alert, active baby in no distress. The left anterior chest appeared to protrude, but both sides were resonant to per• cussion. Breath sounds were markedly decreased in the right upper lung field. No rales were heard. The heart sounds were strong and there were no murmurs. The blood count and urinalysis were normal. Fluoroscopic examination showed a mediastinal shift to the right. and the diagnosis of congenital hypoplasia of the right lung was made. Absence of the right pulmonary artery was queried. Upon reviewing 246 Case Descriptions the plain roentgenogram there was seen a separate right para cardiac shadow that represents the anomalous pulmonary vein. A tracheobronchogram showed a generally small caliber of the right bronchial tree with a "cavity" in the position usually occupied by the right middle lobe. The impression was that there was hypo• plasia of the right middle lobe. The second admission was on September 25, 1955, at 3 months of age for further study. In the interval, the child had had cough or stridor only on crying, and there had been no cyanosis. An esophagram was normal. An angiocardiogram was interpreted as showing hypo vascularization of the right lung consequent to con• genital hypoplasia of the arteries. The main pulmonary artery and right and left branches were seen, but it was thought that most of the blood was carried through the left lung. The third admission was on November 30, 1955. Wheezing had persisted at home. Two weeks prior to admission she had an upper respiratory infection for which she was treated with penicillin. Feeding and weight gain had continued to be good. At physical examination the temperature was 98.6°, pulse 94, and respirations between 22 and 40. The patient was well developed and well nourished, active, and in no distress. The head was normal. There was moderate preponderance of the left anterior chest. The heart sounds were of good quality and were heard on both sides of the sternum. There were no murmurs. A biphasic wheeze was heard throughout the chest and there were no rales. The breath sounds were heard equally well in both lung fields. There was a large reducible umbilical hernia which protruded 4 cm and had a circumference of 6 cm. The liver and spleen were not palpable. The patient underwent a right pneumonectomy on December 2, 1955. At opera• tion the right pulmonary vein drained into the inferior vena cava. The right middle lobe and right lower lobe received arterial blood from the abdominal aorta, entirely or in part. A systemic artery to the upper portion of the lower lobe which arose from the aorta curved around and compressed the esophagus. The right pulmonary artery was seen to supply at least the small upper lobe and a portion of the middle lobe. There was herniation of a portion of the right lower lobe through the foramen of Bochdalek. On the 6th postoperative day, roentgenographic examination revealed a normal left lung. There was the expected mediastinal shift to the right. The left lung field was still clear, and she was eating well. On December 16, the 14th postoperative day, the patient was noted to be breathing with some degree of laryngeal obstruction. During examination she became apneic and cyanotic. She responded to oxygen and artificial respiration and was placed in a croupette. In view of the possibility that this episode might be related to distortion of the left main bronchus secondary to a marked mediastinal shift, a right pneumothorax was performed by the injection of 50 ml of air into the right pleural space over a period of 20 min. After this aeration seemed better, but there remained a large laryngeal obstructive component. Roentgenograms then revealed that the heart was shifted back to its preopera• tive position. There was a questionable infiltrate in the left upper lobe. A murmur was noted to the left of the sternum during the morning. During pharyngeal suction, Case Descriptions 247 she developed marked respiratory distress characterized by an epileptiform seizure with a tonic spasm of her chest and apnea. Artificial respiration was maintained by an endotracheal tube, but it was not possible to achieve good exchange. A tracheotomy was done, but the child's heartbeat had ceast:d.

Autopsy Diagnosis Anomalous pulmonary venous drainage of right lung into inferior vena cava; accessory pulmonary arteries to right lung.

Case 124 (A61, 3 days, 16 Oct 68)

Clinical History This 3-day-old girl was noted to have peripheral cyanosis at birth. Physical examination at that time was within normal limits. The 2nd day of life the baby did not feed well and became tachypneic with a respiratory rate of 70-80 per min. Heart rate at this time was 140. Her color was dusky. Arterial blood gases showed pC02 of 19, p02 of 70, and pH less than 6.9. Bicarbonate was given and resulted in some improvement. The next day the infant's respirations became slower and shallower, and a bradycardia developed. She went into cardiac arrest and was resuscitated. Chest X ray showed cardiomegaly. She was given Isuprel and digitoxin, but 2 hr later the pulse became irregular and asystole occurred.

Autopsy Diagnosis Aortic valve agenesis; mitral valve atresia; hypoplasia of the left ventricle and ascending aorta (hypoplastic left heart syndrome).

Case 125 (A92, 15 days, 27 Nov 68) Clinical History This 2-week-old girl was noted I hr after birth to be cyanotic and did not respond to oxygen therapy. She was transferred to University Hospital for evalua• tion of cyanotic heart disease. Right heart catheterization showed an interventricular septal defect, atrial septal defect, and transposition of the great vessels with a pos• terior pulmonary artery arising from the left ventricle and the aorta in an anterior position arising from the anatomic right ventricle. Balloon atrial septostomy was performed through the foramen ovale. The patient was placed on antibiotics and digoxin. Electrocardiogram showed right-axis deviation, no abnormal P wave, and right ventricular predominance. She continued to be acyanotic with 40% oxygen therapy. Several days later she became increasingly cyanotic and had apneic spells. The cyanosis persisted when she was in an isolette with 40% oxygen. On room air she became increasingly cyanotic. Chest X rays showed no evidence of pulmonary disease. Clinical impression was that inadequate mixing was still occurring, and operative atrial septostomy was undertaken. It was also attempted to anastomose right pulmonary vein to the right atrium. Postoperatively the patient did poorly and had respiratory and cardiac arrest. 248 Case Descriptions

Autopsy Diagnosis Transposition of the great vessels; patent ductus arteriosus; atrial septal defect; ventricular septal defect; right ventricular hypertrophy; pulmonary edema and congestion.

Case 126 (AlSO, 10 days, 13 Jan 69) Clinical History This IO-day-old boy was described as ashen gray and tachypneic at I day of age. A cardiac murmur was heard. He was thought to be in congestive failure and was digitalized with no improvement. At no time was he cyanotic. On several occa• sions the femoral and brachial pulses were thought to be weak or absent. On admission his pulse was 160, respirations 100, blood pressure in the right arm was 80 mm Hg and in the right leg 70-80 mm Hg. There was rare peripheral cyanosis. Weak pulses were noted throughout. There were intercostal retractions, a right ven• tricular lift, a systolic thrill at the mid-left sternal border, an active precordium, a harsh systolic murmur beginning with SI at the mid-left sternal border with radia• tion to the precordium, a questionable separate short systolic murmur beneath the left sternal border, a single SI and S2 of normal intensity, and no S3 and S4. Elec• trocardiogram was interpreted as showing right-axis deviation and right ventricular hypertrophy. The chest X ray was interpreted as showing a slight increase in pulmonary vascularity and a narrow base. The diagnostic impression was acyanotic congenital heart disease and congestive heart failure, hypoplastic left heart syndrome, ventricular septal defect or a single ventricle, patent ductus arteriosus, and possibly preductal coarctation. The patient underwent right heart catheterization. The pulmonary artery pressure was 100/15 mm Hg. The aorta was entered via a patent ductus arteriosus and had a pressure of 90/60 mm Hg. Right ventricular pressure was 100/6 mm Hg. The right atrial mean pressure was 6-7 mm Hg. The left atrium, entered via a patent foramen ovale, had a mean pressure of 18 mm Hg. The A and V waves were as high as 23 mm Hg. The left ventricular pressure was 160/18 mm Hg. Simultaneous femoral artery pressure was 100/60 mm Hg. Oxygenation studies showed a large stepup at approximately the right atrial level, which was consistent with a large left to right shunt. Angiogram suggested: (I) a valvular aortic stenosis with mitral regurgitation; (2) coarctation (preductal); and (3) patient ductus arte• riosus with bidirectional shunt. The impression on catheterization was (1) valvular aortic stenosis, (2) patent ductus arteriosus; (3) left-to-right shunt at the atrial level. This child was taken to surgery for surgical ligation of the patent ductus arteriosus. A hypoplastic aortic arch with no definite coarctation was identified. The procedure was complicated by transient arrythmia. Postoperatively the pulse was stable at about 50 and there was no urine output. Arterial blood gases showed a pH of 7.2, pCO. of 50, and pO. of 80 on 100% oxygen. The child was given sodium bicarbo• nate. One day later he suffered respiratory arrest and was resuscitated but then had a second respiratory arrest which was not reversible. Autopsy Diagnosis Bicuspid aortic valve; endocardial fibroelastosis; right atrial and ventricular hypertrophy; patent ductus arteriosus; patent foramen ovale; interstitial pneumonia; pulmonary congestion; acute passive congestion of the viscera. Case Descriptions 249

Case 127 (A228, 3 months, I Jan 69)

Autopsy Diagnosis Dextrocardia; common ventricle; patent foramen ovale; patent ductus arte• riosus; mitral atresia; anomalous pulmonary venous drainage; hypoplasia of the right lung; polysplenia.

Case 128 (A323, 6 months, I Oct 69)

Clinical History This 5-lj2-month-old boy was noted to be severely cyanotic at birth. He was transferred to University Hospital for cardiac catheterization. This showed trans• position of the great vessels, a high interventricular septal defect, a patent ductus arteriosus, and a patent foramen ovale. At the time of catheterization a ballon atrial septostomy was performed. After this the arterial blood oxygen saturation went to 83% with disappearance of the cyanosis. The patient did well and was cyanotic only on crying until the evening before admission when he had the onset of convulsions. On admission he was a well-developed, well-nourished boy with peripheral cyanosis, tachypnea, and tonic convulsions of all extremities. The arms and legs were rigidly extended, and the pupils were dilated. The pulse was 170, temperature was 10 I 0, and respirations were 80. showed a single second sound with a Grade III systolic murmur heard best at the left sternal border. The liver edge was 2.5 em below the right costal margin. Neurological examination showed slightly dilated, poorly reactive pupils. The retinal veins were engorged and the disk margins were slightly blurred. There was increased muscle tone bilaterally, and the deep tendon reflexes were increased bilaterally. The seizures were controlled with valium and paraldehyde. About 5 hr after admission the patient became apneic and had a bradycardia of 20 beats/min. He was intubated and cardiac resuscitation was performed. He still did poorly and became more obtunded. The pupils became more dilated and less reactive. He became flaccid with absent deep tendon reflexes. Arterial blood gas studies showed he was severely acidotic. Intravenous fluid and antibiotic therapy was instituted; however, he arrested several hours later.

Autopsy Diagnosis Transposition of the great vessels, atrial septal defect; patent ductus arteriosus; right ventricular hypertrophy; thrombosis of internal carotid arteries and right transverse venous sinus; multiple pulmonary angioma.

Case 129 (A375, 5 months, 19 Nov 69)

Clinical History This 5-month-old girl was referred to University Hospital from Mexico for cardiac evaluation. At I week of age she was noted to feed poorly and a cardiac murmur was present. Two days before admission the patient had cough and tachypnea and was thought to have bronchial pneumonia and congestive heart failure. Physical examination on admission revealed flarring of the alae nasae. There was bilateral jugular venous distention to the angle of the mandible in the sitting 250 Case Descriptions posItion. The chest had symmetrical interstitial and suprasternal retractions. The lungs had diffuse, crackling rales. The heart rate was 150 and regular. The point of maximum impulse was 1 cm to the left of the midclavicular line in the fifth inter• costal space. There were no heaves or thrills. There was a Grade III holosystolic decrescendo murmur at the apex and left lower sternal border which was transmitted to the axilla. There was a Grade II systolic ejection murmur at the second right intercostal space. The diagnosis initially was pneumonia with congestive failure. Appropriate antibiotic therapy and digitalis was started. The patient's hospital course was marked by respiratory acidosis and diarrhea. Cardiac catheterization and angiographic studies showed a persistent truncus arteriosus (Type I) with two pulmonary arteries originating from the truncus, an atrial septal defect and an interventricular septal defect. Oxygenation studies showed a large left-to-right shunt. Three days before death, thoracotomy was performed at which time bands were placed on both pulmonary arteries to decrease pulmonary flow. Arterial blood gases before operation showed a pH of 7.25, p02 of 41, and pC02 of 41. Postoperatively the blood gases showed a pH of 7.54, p02 of 54, and pC02 of 29. She died suddenly 3 days after the operation.

Autopsy Diagnosis Persistent truncus arteriosus (Type I); interventricular septal defect; patent foramen ovale; anomalous origin of left coronary artery from posterior cusp of aortic valve; band on pulmonary artery and acture passive congestion of lungs, liver, and viscera.

Case 130 (A58!. I day, 29 May 70) Autopsy Diagnosis Anomalous pulmonary venous drainage, total, via a persistent left superior vena cava into the right superior vena cava; patent ductus arteriosus; patent foramen ovale; constriction of common anomalous pulmonary venous channel; pulmonary lymphangiectasia.

Case 131 (A667, 24 years, 25 Sept 70) Clinical History This 24-year-old woman was known to be cyanotic from birth and at the age of 3 had the clinical diagnosis of tetralogy of Fallot. At that time a Pott's procedure was done. Postoperatively her status improved. In 1958 she had her first cardiac catheterization; however, the catheter did not enter the pulmonary artery and the pulmonary outflow tract was not visualized. In 1962 she began to have dyspnea on exertion and was recatheterized. The impression was not of tetralogy of Fallot but of transposition of the great vessels with a question of corrected transposition. There was also a ventricular septal defect present with right ventricular pressure equaling systemic pressure. She was not considered to be an operable candidate because of the pulmonary hypertension. She was started on digitalis and a low sodium diet. Case Descriptions 251

Three years before final admission she was first admitted to University Hospital, at which time her hematocrit was 74%. She was treated with phlebotomy and was placed on Coumadin. Later a third cardiac catheterization was performed. Again the catheter did not get into the pulmonary artery. Arterial blood oxygen saturation was 75%, arterial pO. was 39, and pH was 7.45. Hemodynamic findings included: (1) right ventricular pressure at systemic level; (2) moderate arterial oxygen unsatura• tion; (3) Qp to Qs ratio of 1.03: 1; (4) the aorta was entered from the right ventricle via a ventricular septal defect; (5) the pulmonary artery was not injured; (6) the atrial septum was not transversed; and (7) tricuspid insufficiency was shown by catheter motion and a moderately enlarged right atrium. Cineangiography showed a patent Pott's shunt. Again the patient was considered inoperable. She had several subsequent admissions for transient fevers of unknown origin and for upper respira• tory tract infections. Her cardiac status worsened. Clinically she was considered to be Class 4 with dypsnea at rest, which increased with even the slightest exertion. Her hematocrit ranged around 60%. It was controlled with repeated phlebotomies. Her arterial pO. ranged between 25 and 35 mm Hg during the last few months of life. Physical examination on her last admission showed a blood pressure of 100/60 mm Hg, pulse of 110, respirations of 36, and a temperature of 98° . She had 4+ clubbing of the fingers and toenails and striking cyanosis. The liver edge was 4 cm below the right costal margin with a positive hepatojugular reflux. Arterial blood gases on 40% oxygen at 10 liters/min showed a pH of 7.38, a pO. of 29, and pCO. of 29. Chest X ray showed no pulmonary infiltrates or edema. Therapy included high-flow oxygen, morphine sulfate for chest pain and agitation, and observation. Her urinary output was zero. She was given Lasix with no improvement. A phlebotomy was performed. Later, respiratory arrest occurred and resuscitation was unsuccessful.

Autopsy Diagnosis Common ventricle; transpositIOn of the great vessels; interventricular septal defect; right ventricular hypertrophy; hypoplastic left ventricle, aorta-left pulmonary artery anastomosis (Pott's shunt); pulmonary arterial sclerosis; organized throm• bosis of pulmonary artery; chronic passive congestion of the liver and viscera; pulmonary and splenic infarcts.

Case 132 (A684, 34 days, 19 Oct 70)

Clinical History This I-month-old boy was transferred at 10 days of age to University Hospital for evaluation of tachypnea and a heart murmur. Physical examination showed a pulse of 160, respirations of 80, and no fever. Cardiac examination showed a point of maximum impulse in the fifth intercostal space and a systolic Grade II flow murmur, heard throughout the precordium. The liver edge was below the costal margin. Arterial blood gases were pH of 7.36, pO. of 34, and pC02 of 52. Elec• trocardiogram showed right ventricular hypertrophy and right atrial enlargement. Chest X ray at this time showed pulmonary changes compatible with total anoma• lous pulmonary venous return. There was also increased lucency of the metaphyseal 252 Case Descriptions plates. He was treated with fluid replacement, digitalis, and antibiotics. Cardiac catheterization was performed. Biplane cineangiograms in frontal and lateral posi• tions done with 70% Hypaque showed simultaneous filling of a large pulmonary artery and a descending aorta by reverse flow through a patent ductus arteriosus. From the lungs all the contrast returned via a common trunk below the diaphragm into the right atrium. The clinical impression was (I) total anomalous pulmonary venous return, below the diaphragm, and (2) associated right-to-left shunt through a patent ductus arteriosus. After catheterization the patient had increasing problems of fluid and electrolyte balance, respiratory difficulties, and nutritional difficulties. His hematocrit dropped to 24. He then had several seizures, apneic spells, and respiratory distress.

Autopsy Diagnosis Anomalous pulmonary venous drainage, total, into a common pulmonary vein draining into the portal vein; patent foramen ovale; patent ductus arteriosus.

Case 133 (A877, II days, 15 March 71)

Clinical History This II-day-old girl at birth had a loud, high-frequency holosystolic ejection murmur, best heard at the left sternal border and third intercostal space, and an early diastolic blowing decrescendo murmur. Chest X ray show cardiomegaly. Physical exam showed a right ventricular lift. The electrocardiogram was compatible with right ventricular hypertrophy and right atrial enlargement. Arterial blood gases were a pH of 7.43, p02 of 47, and pC02 of 25. The clinical impression was truncus arteriosus with increased pulmonary blood flow. The patient then developed conges• tive heart failure with a massive left-to-right shunt and was digitalized on the 3rd day of life. The next day the pulse remained elevated at above 140 beats per min and the respiratory rate ranged from 90 to 120. Chest film showed increased vascular markings in both lungs. Retrograde left and right heart catheterizations showed a truncus arteriosus (Type J) with mild truncal valve insufficiency, a Q-P /Q-S ratio of greater than 2.5/1, and R-P /R -S ratio of 0.44. Pulmonary distress, bradycardia, and shock occurred. The X ray was interpreted as bilateral aspiration pneumonia. Although placed on a respirator the patient's status did not improve. The urinary output dropped with the development of acidosis, hypocalcemia, hyperkalemia, and gastrointestinal hemorrhage. The hematocrit fell to 33. Bizarre arrhythmias appeared on the electrocardiogram on the 11th day. The gastrointestinal hemorrhag• ing persisted and hematuria occurred. Right upper lobe atelectasis was now present on X ray. Seizure activities ensued which were not relieved by Valium or Dilantin. The patient died at II days of age.

Autopsy Diagnosis Truncus arteriosus (Type I); interventricular septal defect; passive congestion of lungs, liver, and viscera; bilateral bronchopneumonia; acute ulcers of gastric and intestinal mucosa; hemorrhagic infarcts of liver, spleen, kidneys, and adrenals; right cerebral ventricular hemorrhage. Case Descriptions 253

Case 134 (A883, 10 weeks, 19 Mar 71)

Clinical History This IO-week-old boy was born to a diabetic mother. Soon after birth he showed circumoral cyanosis and a holosystolic murmur. An electrocardiogram showed left-axis deviation, decreased right ventricular voltage, and suggested right atrial hypertrophy. Cardiac catheterization at I week of age showed transposition of the great vessels, atrial septal defect, and pulmonic stenosis. After catheterization the patient developed infection requiring antibiotic therapy. One month later he was readmitted because of increasing lethargy and hypothermia. Arterial blood gas p02 ranged from 16 to 30 mm Hg. Bilateral upper lobe infiltrates appeared on chest X ray and antibiotic therapy was instituted. Surgical intervention, namely a Waterston procedure, was recommended, but during the operation technical and anatomical difficulties were encountered and the patient expired.

Autopsy Diagnosis Transposition of the great vessel; patent foramen ovale, ventricular septal defect; pulmonic stenosis; single coronary artery, originating from posterior aortic cusp; patent ductus arteriosus; left and right ventricular hypertrophy; acute passive congestion of lungs and liver.

Case 135 (A892, I day, I Apr 71)

Clinical History This I-day-old girl had cyanosis at birth and severe respiratory distress. She expired during cardiac catheterization.

Autopsy Diagnosis Interventricular septal defect; preatrial pulmonary venous stenosis; right ven• tricular hypertrophy; acute passive congestion of lung, liver, and viscera; meconium aspiration.

Case 136 (A941, 14 days, 15 May 71)

Clinical History This 14-day-old girl was severely cyanotic at birth. Cardiac catheterization sug• gested total anomalous pulmonary venous return.

Autopsy Diagnosis Anomalous pulmonary venous drainage, total, below the diaphram entering the inferior vena cava; interventricular septal defect; atrial septal defect, patent ductus arteriosus; acute passive congestion of lungs.

Case 137 (A953, 8 days, 26 May 71)

Clinical History This 8-day-old girl was noted to have multiple congenital anomalies at birth and was transferred to University Hospital for cytogenetic studies. During the first 2 254 Case Descriptions days of hospitalization she had seizures and transient jaundice. On the 8th day of hospitalization, cardiorespiratory arrest occurred.

Autopsy Diagnosis Tetralogy of Fallot; split left upper lobe, left lung; cleft palate; bilateral harelip, poly splenia; bicornate uterus; hypoplasia of anterior cerebral fossa; absence of olfac• tory bulbs; hyperplasia of frontal lobe; absence of corpus callosum; trisomy B1 (13-15).

Case 138 (AI036, I day, II Aug 71)

Clinical History This newborn boy, born 1 month prematurely, developed progressive respira• tory distress immediately after birth. Later respiratory arrest and bradycardia oc• curred. Despite attempts at resuscitation, he was pronounced dead at 7 hr of age.

Autopsy Diagnosis Mitral agenesis; coarctation of the aorta (preductal); patent foramen ovale; patent ductus arteriosus; right ventricular hypertrophy; pulmonary congestion.

Case 139 (AI042, 2 days, 16 Aug 71) Clinical History This 2-day-old girl was transferred to University Hospital because of "con• genital anomalies" and died 6 hr after admission.

Autopsy Diagnosis Interventricular septal defect; patent ductus arteriosus; patent foramen ovale; cleft palate; supernumerary digits on hands and feet; biseptate uterus and vagina; incomplete rotation of midgut; Meckel diverticulum; microophthalmia; congenital absence of olfactory lobes and tracts; trisomy D syndrome; amniotic fluid aspira• tion; pulmonary edema and hemorrhage.

Case 140 (AI049, 8 days, 25 Aug 71) Clinical History This 8-day-old boy was first noted to have a tracheoesophageal fistula with esophageal atresia. This was surgically repaired extrapleurally, and postoperatively the patient did well. On the 9th day of life, respiratory distress occurred, and he died soon thereafter.

Autopsy Diagnosis Atrioventricularis communis; patent ductus arteriosus; left pulmonary isomerism; trisomy 21 including brachycephaly with flat occiput, epicanthal folds, small ears, short broad hands with Simian crease on left; wide gap between first and second toe; acute tracheitis with mucosal ulcerations. Case Descriptions 2SS

Case 141 (A 1050, 4 days, 27 Aug 71)

Clinical History This 4-day-old boy was noted to be cyanotic with tachypnea immediately after delivery. A systolic murmur was heard in the aortic and pulmonic region. He was transferred to University Hospital for cardiac catheterization. On admission his arterial p02 was less than 40 mm Hg. Physical exam showed a right ventricular lift. The heart rate was regular at 160, and blood pressure was 80 mm Hg. The liver edge was 2 cm below the costal margin and continued to increase during his hospital stay. Electrocardiogram showed right ventricular hypertrophy. Cardiac catheterization showed hypoplastic aorta, common atrium, and patent ductus arteriosus. During catheterization, cardiac arrest occurred. After recovery he had seizures and extensive hemorrhaging with a positive FI test. Chest X ray showed increasing opacities in the right lung field and increased pulmonary vascular markings. The patient continued to have seizures and hemorrhages and died on the 4th day.

Autopsy Diagnosis Aortic and mitral atresia; hypoplastic left heart; endocardial fibroelastosis, left ventricle; patent ductus arteriosus; patent foramen ovale; pulmonary atelectasis and hemorrhage; acute passive congestion of liver and viscera; hemorrhages in lungs, kidneys, and liver; coagulopathy, clinically.

Case 142 (A1072, I month. 16 Sep 71)

Clinical History This I-month old boy was transferred to University Hospital at I month of age because of cyanotic episodes which began at 20 days of age. On admission he was cyanotic and had chest retractions while breathing. Chest X ray showed gross cardiomegaly with increased pulmonary vascular markings and a left upper lobe infiltrate. The electrocardiogram showed right ventricular hypertrophy and right atrial hypertrophy. No murmurs were present. There were blood pressure differences between the upper and lower extremities. Blood pressure averaged 175-190 mm Hg in the upper extremities and 100 mm Hg in the lower extremities. Catheterization studies showed coarctation of the aorta. However, the child had hypotensive epi• sodes with hemoglobinuria after a blood transfusion and died before surgery could be performed.

Autopsy Diagnosis Coarctation of aorta (preductal); left ventricular hypertrophy; pulmonary hemorrhage; parenchymal hemorrhage of kidneys; intraventricular hemorrhage of cerebrum.

Case 143 (DA 70-72, 4 months, 16 Dec 72)

Clinical History This 4-month-old boy was admitted to another hospital on two occasions. Multiple studies showed the patient had congenital heart disease comprising truncus 256 Case Descriptions arteriosus (Type IV) with the pulmonary atresia. The patient was also thought to have a large interventricular septal defect with a hypoplastic pulmonary artery. About 3 days before final admission the boy developed gastrointestinal symptoms suggestive of viral illness which other family members were experiencing. During the last 2 days before death the boy experienced upper respiratory symptoms of nasal congestion, difficulty in breathing, and noisy, rapid respirations. The patient was admitted to the hospital showing labored, rapid respirations and pale gray cyanotic skin. Supportive therapy was instituted but he died soon after admission.

Autopsy Diagnosis Truncus arteriosus (Type IV); atrial septal defect (septum secundum); intraven• tricular septal defect (membranous); anomalous pulmonary venous drainage, partial, with left superior pulmonary vein draining into a persistent left superior vena cava into the coronary sinus; left pulmonary isomerism.

Case 144 (D6894-72, stillborn)

Clinical History At 26 weeks of gestation, clinical examination showed the presence of a heart murmur with a slow heart rate (70 beats/min). Two weeks later, the mother delivered a stillborn fetus.

Autopsy Diagnosis Aortic and mitral atresia; hypoplastic left ventricle; patent foramen ovale; patent ductus arteriosus; coarctation of the aorta (preductal); left pulmonary isomerism.

Case 145 (AI 142, 5 years, 12 Nov 71) Clinical History This 5-year-old boy at birth was noted to have bilateral club foot deformities, a right clavicular fracture, and a heart murmur. At one year of age, a Blalock-Taussig procedure for alleviation of tetralogy of Fallot was performed. He was admitted to University Hospital at 5 years of age for definitive correction of his tetralogy of Fallot. On admission his hematocrit ranged from 57 to 61 %. This was thought to be secondary to systemic arterial desaturation. Arterial blood gases on room air showed a p02 of 50, pC02 of 31, pH 7.36, and oxygen saturation of 84%. Electrocar• diogram showed right atrial and right ventricular hypertrophy. Cardiac X ray series showed some enlargement of right ventricle and right atrium with a left-side aortic arch and descending aorta. Cineangiography showed infundibular subpulmonic stenosis with a normal pulmonic valve. A ventricular septal defect with right-to-Ieft blood flow and a nonpatent Blalock-Taussig anastomosis was present. Cardiac catheterization showed normal right atrial pressure, right ventricular pressure of 150/9 mm Hg, left ventricular pressure of 110/10 mm Hg, and aortic pressure of 110/66 mm Hg. Definitive surgical correction was planned but was delayed due to Case Descriptions 257 an upper respiratory illness and a bout of diarrhea. On readmission his height and weight were noted to be less than the 30th percentile for his age. His blood pressure was 92/60, pulse of 122, respirations 28, and normal temperature. Cyanosis was 1+ about the mouth and 3+ in the extremities. Clubbing (3-4+) noted in the extrem• ities. There was a right thoractomy scar present. There was no jugular venous disten• tion, pulmonary edema, or hepatosplenomegaly. Cardiac examination showed a Grade IV systolic ejection murmur heard best along the left sternal border. This was described as being crescendo-decrescendo. The right arm was atrophic being 3.5 cm shorter than the left arm. These findings were considered secondary to Erb palsy. Surgical correction of the tetralogy of Fallot was undertaken. At operation a normal-appearing pulmonic valve was seen. The infundibular obstructing muscle mass was resected and dacron patches were used to close the I-cm diameter ven• tricular septal defect. Needle pressures in the pulmonary artery compared to the right ventricle showed a pressure gradient of 40-70 mm Hg. Immediately after operation a series of complications occurred, including complete A V disassociation and an arterial oxygen gradient on 100% oxygen and p02 of 46-66 mm Hg. The latter decreased with rapid transfusions. There was extensive hemorrhage from the chest tubes. dropped to zero and was only corrected to 15 with nearly 2 liters of blood being administered. The prothombin time, partial throm• boplastin time, and clotting times were normal. Although the hemorrhage problem improved over the next day, positive stools appeared. During the postoperative period the patient had problems with maintaining blood pressure and recurrent epi• sodes of pulmonary edema. Three days later the temperature rose to 106°. PT and PTT were greatly prolonged. Later, urinary shutdown developed with a rising BUN and creatine to 137 and 2.6 mg/IOO ml, respectively. Acute tubular necrosis was the clinical diagnosis. Later, serum potassium increased to 6.6 and calcium decreased. Steps were taken to correct both of these, but the child had a cardiac arrest, was resuscitated successfully, but became hypotensive and finally died.

Autopsy Diagnosis Tetralogy of Fallot, postsurgical repair with closure of ventricular septal defect; Blalock-Taussig anatomosis, postsurgical ligation; acute passive congestion ofliver and spleen; pulmonary hemorrhage; subcutaneous emphysema.

Case 146 (A1l54, 16 years, 20 Nov 71) Clinical History This 16-year-old boy was admitted to University Hospital on November 8, 1971, with complaints of cough and fever of 2-day duration and intermittent left chest pain of I-day duration. Congenital heart disease was first suspected when he developed cyanosis at the age of 3 months. Several cardiac catheterizations were performed. In March, 1970, cardiac catheterization showed a persistent left superior vena cava, a right inferior vena cava, a single ventricle with large interventricular septal defect, a single atrium with endocardial cushion defect, transposition of the great vessels, and infundibular pulmonary stenosis. Since catheterization he had 258 Case Descriptions been admitted for otitis media, left axillary thrombophlebitis, and for therapy of increasing congestive heart failure with anasarca. Physical examination on this admission showed a young man in respiratory distress who was cyanotic and had anasarca. Blood pressure was 100/80 mm Hg, pulse was 120, and temperature was 102°. Clinical interpretation was that of cyanotic congenital heart disease. Pneu• monia of the left lower lobe, evident on chest X ray, was treated with penicillin. In addition to congenital heart disease, his problem on this admission was considered to be pulmonary infarction because of the chest pain. Additional findings supporting this diagnosis were unilateral bloody pleural effusion, an LDH of 1440 IV/liter, and a protein of 2.5 mg/100 mt. Pleural fluid cultures were negative, and no blood was present in the sputum. The patient continued to have persistent fever and leukocy• tosis. Electrocardiogram showed left anterior hemiblock, first-degree heart block, and left ventricular hypertrophy. The patient died 12 days after admission with persistent chest pains and increasing dyspnea.

Autopsy Diagnosis Atrioventricularis communis; atrial septal defect; interventricular septal defect; anomalous pulmonary venous drainage, total, with right superior pulmonary vein emptying into right superior vena cava, the remaining pulmonary veins turning into a common channel which drains into the right superior vena cava; persistent left superior vena cava draining into common atrium; right-side ascending aortic arch and thoracic aorta; bicuspid pulmonic valve; subvalvular pulmonic stenosis; right pulmonary isomerism; asplenia; indeterminant visceral-atrial situs with transverse liver, stomach on the right side, and no malrotation of the remainder of the gas• trointestinal tract; pulmonary infarct, left lower lobe.

Case 147 (AI261, I month, 23 Feb 72)

Clinical History This I-month-old girl was noted to have a heart murmur and circumoral cyanosis, postprandially at 10 days of age. At birth, low-set ears, short webbed neck, and wide-set nipples were noted with a poor sucking reflex suggesting a possible Turner syndrome. A Grade III harsh systolic murmur was described along the left sternal border. Later X rays showed evidence of right ventricular hypertrophy and question of a boot-shaped pattern to the heart with a right lower lobe infiltrate. The patient was transferred to University Hospital for further cardiac evaluation. On admission the lungs were clear. Cardiac examination showed no enlargement, but

there was a right ventricular lift; P2 was greater than A2• There was a grade III sys• tolic murmur heard best in the second intercostal space and the midclavicular line, but it was heard over all the precordium in the back. The liver edge was 2 cm below the costal margin. The extremities showed webbing between the second and third toes on the left side and the third and fourth toes on the right side. The hands were held in a clenched position with the thumb clasped under all the other fingers. The fourth finger was overriding fingers I, 2, and 3. There were no simian creases noted. The thumbs appeared to be rotated externally. Neurologic examination showed a Case Descriptions 259 fair sucking reflex and a poor Moro reflex. The grasp reflex was described as 2+ bilaterally, and the child had a floppy head. The tendon reflexes were 1+ and sym• metrical. The initial impression was congenital heart disease and Turner syndrome. Chromosome studies were done which confirmed trisomy 18 with the finding of a mosaic pattern. Pediatric cardiology consultation reported the clinical findings were consistent with right ventricular outflow obstruction and possible left-to-right shunt• ing. Later the patient had a severe apneic episode with marked progressive bradycardia and died.

Autopsy Diagnosis Interventricular septal defect; pulmonic stenosis (infundibular); patent ductus arteriosus; patent foramen ovale; right ventricular hypertrophy; muscular defects of diaphragm with herniation of accessory lobes of liver into thorax; trisomy 18 (Edwards syndrome); focal pulmonary hemorrhage; focal pulmonary septal fibrosis.

Case 148 (AI6l6, 5 days, 18 Feb 73)

Clinical History This 5-day-old girl was admitted to University Hospital at 4 days of age in shock. Although she had been observed to have a slight dusky appearance with feed• ings and a heart murmur was heard, the mother had signed the child out of the hos• pital against medical advice. Before leaving, an electrocardiogram and chest X ray suggested cardiomegaly. On the morning of admission the child appeared pale and turned blue after feeding. On admission she was a mottled, hypotonic infant with no peripheral pulses palpable. She had tachypnea with a respiratory rate of 70 and marked substernal retractions. There were no rales. Her precordium was hyperactive with a heart rate of 170 beats/min. Sl and S2 were normal but there was a S4 gallop. No murmurs were heard. Arterial blood gases on 100% oxygen showed a pH of 7.08, p02 of 86, and PC02 of 23. She was treated with fluids and bicarbonate and underwent cardiac catheterization shortly after admission. This procedure showed a hypoplastic left ventricle associated with mitral atresia, aortic atresia, and a string• like deformity of the ascending aorta. Also, the ductus arteriosus and foramen ovale were patent. The patient continued to be hypotensive and hypoxemic after cardiac catheterization and died the next day.

Catheterization Studies 16 Feb 73 Arterial blood gases: (aorta) O2 saturation, 87%; p02, 29.5; pC02, 75; pH, 7.08 Ascending aortic pressures, 70/50 mm Hg, mean 56 mm Hg Pulmonary artery pressures, 100/50 mm Hg, mean 68 mm Hg Right atrial pressure, 20 mm Hg (a), 16 mm Hg (v), and 12 mm Hg (mean) Left atrial pressure, 28 mm Hg (a), 24 mm Hg (v), and 19 mm Hg, (mean) 260 Case Descriptions

MPA pressure, 90/50 mm Hg, equals systemic; pullback MPA to descending aorta via the patent ductus arteriosus shows a 32 mm Hg systolic gradient and 12 mm mean gradient (MPA greater than ascending aorta). The impression was hypoplastic left heart syndrome with mitral atresia, diminutive left ventricular cavity, aortic valve atresia, markedly hypoplastic ascending aorta, patent ductus arteriosus (right-to-left shunt), and atrial septal defect (left-to-right shunt).

Autopsy Diagnosis Aortic and mitral atresia; hypoplastic left ventricle; patent ductus arteriosus; patent foramen ova Ie; coarctation of ascending aorta; right ventricular hypertrophy; acute and chronic passive congestion of lungs.

Case 149 (A1365, 3 weeks, 26 May 72)

Clinical History This 3-week-old girl was admitted at 17 days of age because of tachypnea and cyanosis noted on a routine well-baby visit. On admission she had a pulse of 180 beats/min, respiratory rate of 80 and an unobtainable blood pressure. Diffuse pulmonary rhonchi were heard on physical exam. A thrill was noted at the second and third intercostal space at the mid-left clavicular line. In addition, a right ven• tricular lift was present. SI and S2 were normal; however, a loud S3 was heard. Grade II, loud systolic murmur was heard at the fourth intercostal space at the left sternal border. This murmur radiated to both extremity regions and the back. The peripheral pulses were strong. There was slight hepatomegaly noted. Laboratory data included a hematocrit of 41 and a leukocyte count of 13,700. Arterial blood gases obtained on room air were pH 2.34, p02 of 56, and pC02 of 34. Electrocardio• gram showed right ventricular hypertrophy. The chest X ray showed marked cardiomegaly with increased pulmonary vascular markings suggestive of a left-to• right shunt. Clinical impression on admission was congenital heart disease-includ• ing possibly patent ductus arteriosus, A V canal malformation, or truncus arte• riosus-and congestive heart failure. On the 3rd hospital day, cardiac catheterization was performed showing truncus arteriosus. Toward the end of the procedure, the patient had a seizure followed by respiratory arrest and could not be resuscitated.

Autopsy Diagnosis Truncus arteriosus (Type I); left pulmonary isomerism, hemopericardium; Wilm's tumor; focal kidney and acute passive congestion of lungs, liver, and spleen.

Case 150 (A 1385, I day, 13 lun 72) Clinical History This I-day-old boy weighed 2 Ib 4 oz at birth. Multiple congenital anomalies were noted. He became progressively cyanotic with bradycardia and died at 4 hr of age. Case Descriptions 261

Autopsy Diagnosis Interventricular septal defect; patent ductus arteriosus; patent foramen ovale; posterior rotation of ears; hyperteleorism; agenesis of gallbladder; single-lobe thyroid hemorrhage; necrosis of the brain; immaturity.

Case 151 (AI635, 2 days, 12 Mar 73)

Clinical History This 2-day-old girl was transferred to University Hospital a few hours after birth because of presence of congenital anomalies, including massive edema of the head and abdomen. Blood gases obtained on admission included pH of 7.17, pC02 of 45, and p02 of 58. Physical examination on admission showed a fairly active but dusky infant, with generalized massive edema, particularly of the head, abdomen, and extremities. The pulse was 80 and irregular; respirations were 40 and irregular. Blood pressure was 70 mm Hg by palpation. A high-arched palate was present. The lungs had moist rales bilaterally. Cardiac examination showed forceful, irregular contractions with a left ventricular lift present. A loud Grade III systolic murmur was heard over the precordium. The abdomen was extremely extended with fluid and the liver edge was palpable 1 cm below the costal margin. There was marked edema of the extremities. Admission laboratory values included a BUN of 13, sodium of 140, potassium of 4.1, bilirubin of 0.3/5.8, total protein of 3.0, PT of 15.4/11.7, PTT of 58.4/29.6, platelet count of 142,000, and hematocrit of 42%. Urine output declined and was poorly responsive to Lasix. About 600 ml of ascitic fluid was removed from the abdomen. The patient's hospital course was com• plicated by persistent hypotension, bradycardia, and decreasing urine output. The ascitic fluid reaccumulated and chest X ray showed marked cardiomegaly with a globular configuration to the heart and normal pulmonary vascularity. There was marked edema of the chest wall. The abdominal X ray suggested situs inversus with the stomach being on the right side. The infant was flaccid and nonresponsive during the last hospital day and died at 3 days of age.

Autopsy Diagnosis Atrioventricularis communis; total anomalous pulmonary venous drainage into right atrium; atrial septal defect; patent ductus arteriosus; aortic arch atresia; biven• tricular cardiac hypertrophy; left pulmonary isomerism; polysplenia; right-sided stomach; acute passive congestion of lungs and viscera; massive ascites; chronic passive congestion with centrilobular periportal fibrosis of the liver; anomalous drainage of left hepatic vein into left atrium.

Case 152 (AI397, 11 days, 28 June 72)

Clinical History This II-day-old girl was transferred to University Hospital at 1 day of age for evaluation of cyanotic congenital heart disease. Physical examination on admission showed a temperature of 98.8, pulse of 144, and respirations of 40. Cardiac exami- 262 Case Descriptions nation showed a slight lift at the left sternal border with a normal sinus rhythm. A Grade II, early short systolic murmur was heard along the left sternal border with no diastolic murmur, nor was a S3 or S4 present. The pulses were normal. The abdomen was soft and the liver measured 3 cm below the costal margin. There was 2-4+ circumoral cyanosis at rest on room air and generalized cyanosis when crying. Laboratory data included a hemoglobin of 15.6, hematocrit of 48; white cell count of 11,600; platelet count of 314,000; sodium of 140; chloride of 98; potassium of 5.3; CO2 of 19; BUN of 13; calcium of 9.2; and sugar of 64. Blood gases obtained on room air showed a pH of 7.47, p02 of 20, pC02 of 38, and bicarbonate of 27.0. At 100% oxygen the blood gases were pH of 7.48, p02 of 110, pC02 of 36 and bicar• bonate of 27. PT was 14.9 and PTT was 60.8. The electrocardiogram showed left-axis deviation and a counter-clockwise frontal loop. Chest X ray suggested a right-to-left shunt with a right-side aortic arch. On the 4th hospital day an echocar• diogram was performed which showed findings of a single ventricle or hypoplasia of one side of the heart. Cineangiocardiography showed severe congenital tricuspid stenosis, hypoplastic right heart, right-to left shunt at the atrial level, atresia of the pulmonary artery, right-side aortic arch, and collateral filling of the right pulmonary artery by a large bronchial collateral artery. The left pulmonary artery was never visualized. There also was a small ventricular septal defect. The child was discharged to be followed in 2 weeks, however, 5 days after discharge the baby stopped breath• ing, and no pulses could be felt. The child was pronounced dead on arrival at an out• side hospital

Autopsy DiagnOSis Tricuspid atresia; patent foramen ovale; persistent left superior vena cava; hypoplastic right ventricle; interventricular septal defect; patent ductus arteriosus; stenosis of left pulmonary artery; atresia of main pulmonary artery; left ventricular hypertrophy; anterior aorta with right-side aortic arch; single coronary artery origi• nating from right aortic cusp; double ureters on left side; intussusception of ileum; acute pulmonary congestion.

Case 153 (AI794, 8 days, 2 Sep 73)

Clinical History This 8-day-old boy at 2 days of age was noted to be pale and tachypneic. Chest X ray was interpreted as showing aspiration, then antibiotic therapy was started. He remained in distress, and subsequently a significant heart murmur was noted. Physical examination signs were consistent with aortic coarctation, and he was transferred to the hospital for cardiac catheterization. On admission he was pale and tachypneic with a respiratory rate of 100 and temperature of 98.6°. Blood pressure in the left arm was 80 and in the left leg was 40. There were decreased-to-absent femoral pulses bilaterally. The liver was down 2 cm and the right costal margin was faintly palpable during systole. Cardiac examination showed a substernal right ven• tricular lift and two murmurs. A grade III, crescendo-decrescendo, low-pitch sys• tolic parasternal murmur, and a grade II, higher frequency, long systolic murmur at Case Descriptions 263 the lower left sternal border with some variation in intensity during respiration were heard. S3 and S4 gallops were also present. He was treated for mild congestive heart failure, and cardiac catheterization was performed. This study showed a large atrial septal defect, a large anterior right ventricle giving rise to both the main pulmonary artery and aorta, a hypoplastic left ventricle with no ventricular septal defect, and no evidence of patent ductus arteriosus. Corrective surgery was considered, but the child arrested twice and expired before it could be undertaken.

Autopsy Diagnosis Cor triloculare biatriatum; mitral atresia; D-transposition of the great vessels; common ventricle (Type A); solitus of atria; patent foramen ovale; persistent left superior vena cava; coarctation of the aorta (preductal); patent ductus arteriosus.

Case 154 (A1795, 3 days, 4 Sept 73)

Clinical History This 3-day-old girl became cyanotic shortly after birth and was put on 90% oxygen. On physical examination respirations were 80, pulse was 142, blood pressure was 70, and temperature was 98. The S2 heart sound was split and there was a right ventricular lift. There was a holosystolic, Grade II murmur heard at the left sternal border and at the apex. The liver was I em below the right costal margin, and there was dislocation of the right hip. Arterial blood gases showed a pH of 7.37, p02 of 81, and a pC02 of 27. While on 80% oxygen cardiac catheterization was conducted 2 days later, and Type I truncus arteriosus was diagnosed. Subsequently, the baby developed seizures which were treated with pentobarbital. She expired on the 3rd day after birth.

Autopsy Diagnosis Aortic and mitral atresia; atresia of ascending aortic arch; patent ductus arte• riosus; patent foramen ova\e; hypoplastic left heart syndrome.

Case 155 (NH-78-255, 3 days, 15 Oct 73) Clinical History This 3-day-old boy developed respiratory distress, cyanosis and,oligura at 1 day of age. Physical exam showed a murmur to be present along the left sternal border with radiation to the back. Cardiac catheterization showed congenital aortic stenosis. The patient was taken to the operating room where aortic valvulotomy was performed. Postoperatively the patient continued to have oliguria and hypotension appeared. Anuria then developed, asystole occurred, and resuscitation was of no avail.

Autopsy Diagnosis Aortic stenosis (postvalvulotomy); \eft ventricular hypertrophy; endocardial fib• roelastosis of left ventricle, patent ductus arteriosus; patent foramen ovale; left pulmonary isomerism; gastric ulcer with hemorrhage. 264 Case Descriptions

Case 156 (A 73-19, 24 years, 29 Mar 73)

Clinical History This 24-year-old woman was admitted to an outside hospital for diagnosis of congenital heart disease and a chief complaint of chest pain, cough, and dyspnea. These symptoms persisted for 3 days before admission, and she also had hemoptysis. Physical examination on admission showed an apprehensive patient in respiratory distress with a temperature of 100.4°, pulse of 88, and blood pressure of 90/60 mm Hg. Examination of the chest showed rales and rhonchi bilaterally. There was a grade III-IV systolic murmur over the entire precordium. Examination of the abdomen showed the liver edge to be 3 cm below the costal margin. Extremities had pretibial pitting edema. Laboratory data on admission included a hemoglobin of II, hematocrit of 36%, white blood count of 11,000 with 65% leukocytes and 21 % lymphocytes, CO2 of 41, chloride of 87, sodium of 140, and potassium of 2.9. SMA showed elevations ofbili• rubin, LD, and SGOT. Chest X ray showed cardiac enlargement with evidence of congestive heart failure and possible pneumonia. An electrocardiogram showed left atrial enlargement with right bundle branch block. After admission the patient developed a hypertensive episode and was trans• ferred to the intensive care unit. She was started on antibiotics, became afebrile, and her congestive heart failure cleared, but suddenly she collapsed and resuscitative measures were to no avail. She died I week after admission.

Autopsy Diagnosis Tetralogy of Fallot (postsurgical repair); bicuspid aortic valve; single coronary artery, originating from the anterior aortic cusp; persistent left superior vena cava; biventricular hypertrophy and dilation; severe pulmonary edema; pulmonary hemosideriosis; left pulmonary isomerism; renal cell carcinoma of left kidney; acute and passive congestion of liver and spleen.

Case 157 (AI715, IS months, 18 lun 73)

Clinical History This IS-month-old girl with Down syndrome and an endocardial cushion defect developed a sudden onset of respiratory distress and wheezing. She expired 16 hr later with clinical diagnosis of bronchial spasm and hypoxia.

Autopsy Diagnosis Atrioventricularis communis; Down syndrome (trisomy 21); medial hypertrophy of pulmonary arteries; pulmonary edema; aspiration of foreign body (peanut) in right mainstem bronchus.

Case 158 (A 73-66,4 months, 8 Nov 73)

Clinical History This 4-month-old boy was admitted to an outside hospital with a history of cough, chest congestion, anorexia, and intermittent dyspnea persisting for 3-4 days. Case Descriptions 265

Physical examination showed an irritable infant with subcostal retraction and respirations of 34 per min. Examination of the lungs showed rales to be present. The white blood count was 22,000. Hemoglobin was 9.9, and there was a normal urine analysis. The morning after admission the patient became cyanotic, and cardiac arrest occurred. Resuscitative measures were unsuccessful.

Autopsy Diagnosis Subendocardial fibroelastosis of left ventricle; left ventricular hypertrophy and dilatation; pulmonary edema; acute pneumonia of both lungs; left pulmonary isomerism and polysplenia.

Case 159 (AI903, 2 years, 20 Dec 73)

Clinical History This 2-year-old girl at the age of 3 weeks developed fussy eating habits which were followed by cyanosis and shock. Cardiac catheterization confirmed the diag• nosis of ventricular septal defect, patent ductus arteriosus, and postductal coarcta• tion of the aorta with a pulmonary arterial blood pressure of 100/40 mm Hg. At I month of age the patent ductus arteriosus was ligated, and the coarctation of the aorta was resected. A band was placed about the pulmonary artery to reduce pulmonary artery pressure. The patient did well postoperatively and developed nor• mally. Repeat cardiac catheterization at 9 months of age showed that the ventricular septal defect produced bidirectional blood flow with a net shunt flow being left-to• right with a 1.1: I ratio. She was admitted for elective cardiac surgery at 21 months of age to patch the interventricular septal defect, remove the pulmonary artery band, and replace the latter with a patch. Postoperatively she developed hypotension which was not corrected with dopamine therapy. Subsequently she had a cardiac arrest and died a few hours postoperatively.

Autopsy Diagnosis Interventricular septal defect (postsurgical repair); patent ductus arteriosus (postsurgical ligation); coarctation (postductal) of aorta (postsurgical dissection), persistent left superior vena cava; right ventricular hypertrophy; polysplenism and atelectasis of left lung.

Case 160 (A2022, 15 years, 4 June 74)

Clinical History This IS-year-old girl had many hospital admissions for complications of con• genital heart disease. She was cyanotic shortly after birth and underwent cardiac catheterization on two occasions, most recently 4 years before death. From these studies the congenital heart disease diagnosis was transposition of the great vessels and pulmonic stenosis. It was thought she had a single ventricle. In addition, situs inversus was present involving many of the organs. Her multiple hospital admissions were for treatment of congestive heart failure and at on least one occasion for possi• ble digitalis toxicity. In general, she was maintained over the years on digitalis and 266 Case Descriptions diuretics. Four years before death she underwent a Blalock shunt operation to improve systemic oxygen saturation. Her final admission I day before death was because of severe shortness of breath and a syncopal episode. On admission she was tachypneic, tachycardiac, and agitated. Neck veins were distended and there was pulmonary edema. Supraventricular tachycardia was present with a heart rate of 185, but this spontaneously reverted to a sinus tachycardia of about 150. Later she became dizzy, had a generalized seizure, developed ventricular tachycardia, suffered chest pains, and died after cardiac arrest.

Autopsy Diagnosis Common ventricle; subvalvular pulmonic stenosis; situs inversus; pulmonary congestion and atelectasis; chronic passive congestion of liver, spleen and viscera; hydrothorax; ascites; Blalock-Taussig anastomosis.

Case 161 (A2018, 2 years, 29 May 74)

Clinical History This 2-year-old girl with cyanotic congenital heart disease presented at University Hospital with the chief complaint of hepatomegaly and tachypnea. When first seen 2 years before this admission she was mildly cyanotic and had findings consistent with tetralogy of Fallot. Then she was thought to have dextrocardia, decreased pulmonary vasculature, and tricuspid atresia. On workup I year later, the diagnosis of L-transposition of the great vessels with left ventricular outflow tract obstruction and a ventricular septal defect was made. She continued to do well. One month before this admission she was noted to be increasingly fatigued, lethargic, and diaphoretic. She was also squatting frequently. She was admitted to another hospital for treatment of congestive heart failure. On that admission she displayed some lym• phadenopathy, had abnormal liver function tests, and was noted to have a positive heterophile agglutinin test at 1 : 56. She was treated with digitalis, Lasix, and various antibiotics and sent home. One week later she exhibited increased fatigue, insomnia, tachypnea, and diaphoresis. The liver was pulsatile and 10 cm below the costal margin. A new murmur consistent with tricuspid insufficiency was present. The family history included that of a 4-year-old sibling with tetralogy of Fallot and a mother who was diabetic. On physical examination the patient was small, tachypneic, cyanotic, and in mild-to-moderate respiratory distress. Cardiac exami• nation showed a Grade IV systolic injection murmur, best heard at the right upper sternal border but not radiating loudly. The lung fields were clear. The liver was about JO-12 cm below the right costal margin in the midclavicular line and was firm and pulsatile. Tlrere was mild clubbing of the extremities. Various clinical diagnoses included congestive heart failure, tricuspid insufficiency secondary to subacute bac• terial endocarditis, myocarditis, , and possible hepatitis or systemic infection. Infectious disease workup was unremarkable. Electrocardiogram was interrupted as showing Wolf-Parkinson-White syndrome, dextrocardia with right-axis deviation, combined atrial enlargement, excessive right posterior forces with widened Q-R-S duration and left bundle branch block. Chest X rays showed a Case Descriptions 267 marked interval increase in heart size with a right lower lobe density and right pleural effusion. Vena cava angiogram revealed a patent normal vena cava. Echocar• diogram showed evidence of pericardia I fluid which was not successfully tapped on several attempts. During her hospital course, which extended over 2 weeks, she received digitalis and diuretics, and her electrolytes were maintained in balance. She continued to have persistent heart failure and then developed an anemia and thrombocytopenia. Cardiopulmonary arrest occurred, and she could not be resus• citated.

Autopsy Diagnosis Common ventricle; transposition of the great vessels; tricuspid atresia; patent foramen ovale; bicuspid pulmonic valve with pulmonic stenosis; generalized lym• phadenopathy; passive congestion of viscera; pulmonary edema.

Case 162 (AI862, 13 days, 5 Nov 73) Clinical History This 13-day-old girl was admitted to University Hospital at II days of age with a primary diagnosis of congenital heart disease. At birth a heart murmur was noted, but there was no cyanosis. A chest X ray then showed increased bronchiovascular markings with a globular cardiac silhouette. Electrocardiogram showed right ven• tricular hypertrophy with a counter-clockwise loop. Later the baby became cyanotic with crying and subsequently became short of breath and fed poorly. Physical examination on admission showed the patient to be cyanotic and tachypneic. Blood pressure was 90 systolic, pulse was 170, and respiration was 65. There was a macular rash of the abdomen and a simian crease on the left hand. The chest was hyperinflated. The heart had a gallop rhythm with tachycardia. There was a Grade II systolic ejection murmur heard best over the back but also over the left lower sternal border. Examination of the abdomen showed a liver edge to be 3 FB below the right costal margin and "soggy." The spleen was palpable. Blood pressures taken later showed 80 mm Hg in the right arm by flush technique and 40-50 mm Hg in the left arm and leg. Cardiac catheterization was done I day before admission. The findings showed a patent ductus arteriosus, an atrial septal defect, a ventricular septal defect, and coarctation of the aorta. An aortogram was performed. This showed interruption of the aortic arch between the left carotid and left subclavian arteries, with stenosis of the left subclavian artery, and a patent ductus arteriosus, juxtaposed with the coarctation of the aorta. On the day of admission the child was tachypneic, tachycardic, and cyanotic. The liver edge was now down 4.5 cm below the costal margin. Chest X ray showed an increase in pulmonary vascular congestion and it was decided to operate. The child expired on the operating table.

Autopsy Diagnosis Interruption of aortic arch (Type B); interventricular septal defect (Type 2); patent ductus arteriosus; patent foramen ovale; right ventricular hypertropy and dilatation; acute passive congestion of the liver; intraalveolar hemorrhage. 268 Case Descriptions

Case 163 (AI383, 17 days, 9 Jun 72)

Clinical History This 17-day-old girl was transferred to University Hospital at 9 days of age. Clinical impression on admission was left ventricular outflow obstruction with or without patent ductus arteriosus. She went into congestive failure with electrolyte abnormalities and expired I week after admission.

Autopsy Diagnosis Coarctation of the aorta (preductal); patent ductus arteriosus; interventricular septal defect; pneumonia (Pseudomonas); focal, acute tracheobronchitis; acute passive congestion of viscera.

Case 164 (A 1534, 6 months, 2 Dec 72)

Clinical History This 6-month-old boy was cyanotic from birth. Catheterization showed trans• position of the great vessels, pulmonic stenosis, a small ventricular septal defect, and a patent ductus arteriosus. Balloon septostomy was performed. He did well but required digitalis. Repeat catheterization showed elevated left and right ventricular end-diastolic pressures and a small ventricular septal defect. A Blalock-Hanlon procedure was performed. Several hours later the patient developed bradycardia and hypotension and died.

Autopsy Diagnosis Transposition of the great vessels; hypertrophy and dilatation of the left and right ventricles; patent ductus arteriosus; Blalock-Hanlon procedure; muscular interventricular septal defect; acute passive congestion of viscera.

Case 165 (AI696, 3 days, 17 May 73) Clinical History This 3-day-old boy developed tachypnea, mottling, hepatosplenomegaly, aci• dosis, and oliguria 36 hr after birth. An electrocardiogram showed recurrent, prema• ture ventricular contractions and episodes of ventricular tachycardia. Despite sup• portive care he expired on the 3rd day.

Autopsy Diagnosis Aortic and mitral atresia; hypoplastic left heart; patent foramen ovale; patent ductus arteriosus; severe congestion of lungs, liver, spleen, and viscera.

Case 166 (AI49, 71/2 years. 10 Jan 69) Clinical History This 71/2-year-old girl with Down syndrome was referred to University Hospital because of a heart murmur and signs of congestive heart failure. She had recurrent bouts of cyanosis with crying until the age of 2 years. After that these episodes Case Descriptions 269 became less frequent. On admission chest X ray with a barium swallow showed signs of right ventricular enlargement, right atrial enlargement, and left ventricular enlargement. There was also an increase in pulmonary vascular markings. Elec• trocardiogram showed left-axis deviation, left ventricular hypertrophy, and right ventricular hypertrophy. Cardiac catheterization studies were comparable with endocardial cushion defect, ventricular septal defect. mitral regurgitation, and a cleft mitral leaflet. Pulmonary artery pressures were at systemic levels. There was a left• to-right shunt. An atrial septal defect could not be defined. The patient was dis• charged and readmitted later for definitive cardiac surgery. On readmission physical exam showed a small child with mongoloid facies. Her vital signs were within normal limits. Cardiac examination showed a left sternal lift. The point of maximum impulse was in the anterior axillary line. The pulmonic second sound was louder than the aortic second sound. There was a Grade II systolic murmur, loudest along the left sternal border and radiating throughout the entire precordium. There was no diastolic murmur and no thrills were felt. Laboratory data on admission, including BUN, serum electrolytes, CBC, platelet count, prothrombin time, bleeding time, and partial thromboplastin time, were all within normal limits. Urinalysis was normal. The patient underwent open cardiac surgery. Dacron patch grafts were placed over the ventricular septal defect, the atrial septal defect, and the common atrioventricular canal. Repair of the cleft in the anterior leaflet of the mitral valve and the septal leaflet of the tricuspid valve was attempted. After repair the patient could not maintain adequate on cardiopulmonary bypass. This was thought to be due to infringement on the aortic outflow tract by repair of the mitral valve. Thus, the mitral valve repair was taken down, but again the patient was una• ble to maintain blood pressure when off cardiopulmonary bypass and expired.

Autopsy Diagnosis Atrioventricularis communis (postsurgical repair); Down syndrome; medial hypertrophy of pulmonary arteries; acute, severe congestion of lungs, liver, and spleen.

Case 167 (A341, 2 days, 23 Oct 69) Clinical History This 2-day-old boy was born by Caesarean section because of a decreasing heart rate in utero. After birth physical examination showed a tachypneic, cyanotic child with normal chest findings on physical examination. Lumbar puncture showed slightly xanthrochromic fluid with no white blood cells and a protein of 34 g/ 100 ml and no organisms on culture. Electrocardiogram showed a deviation of -150°. Chest X ray was normal. The child continued to be cyanotic, and a diagnosis of transposition of the great vessels was made. The child was transferred to University Hospital for cardiac catheterization. The procedure confirmed the diagnosis of transposition of the great vessels and mitral regurgitation. An atrial balloon sep• tostomy was performed with marked improvement of the systemic arterial blood gases. After the procedure there was nodal arrest, ectopic foci, bradycardia, and apnea. Resuscitative attem pts were unsuccessful. He died at 2 days of age. 270 Case Descriptions

Autopsy Diagnosis D-transposition of the great vessels; patent foramen ovale; right ventricular hypertrophy; recent massive subarachnoid hemorrhage of brain stem.

Case 168 (A456, 3 1/2 years, 2 Feb 70)

Clinical History This 3V2-year-old girl was admitted to University Hospital for the ninth time. Two years previously she had been diagnosed as trisomy 21. One-and-one-half years before admission she underwent cardiac catheterization which showed a ventricular septal defect, atrial septal defect, and functional pulmonic stenosis. She also had a bifid kidney and marked scoliosis. Her previous hospitalizations had been either for diagnostic workups or treatment of respiratory distress secondary to pneumonia. She had several episodes of cyanosis during those hospitalizations. Her current illness began about 8 days before admission with an upper respiratory infection, fever, and diaphoresis. Three days before admission her fever was 102 0 • She was anorexic, lethargic, irritable, and coughing. On admission her temperature was 102 0 , respira• tions were 28, and pulse was 130. She appeared lethargic and flaccid. A pansystolic murmur was present. The patient was treated with intermittent positive-pressure breathing and postural drainage. She became afebrile and was ready for discharge when she died suddenly.

Autopsy Diagnosis Atrial septal defect (ostium secundum); anomalous pulmonary venous drainage, partial, of right superior pulmonary vein, to the right atrium via the coronary sinus; Down syndrome (trisomy 21); scoliosis; pneumonia; left lower lobe and pulmonary congestion.

Case 169 (A620, I month, 3 Aug 70) Clinical History This I-month-old girl was transferred to University Hospital in severe conges• tive heart failure. At birth she had an omphalocele which was surgically corrected. At that time a questionable heart murmur was noted as well as a possible difference between the blood pressure in the right and left extremities. During the next 2 weeks of life she did quite well, but at 3 weeks of age she developed congestive heart failure with differential cyanosis. She was digitalized and given diuretics at an outside hos• pital and transferred to University Hospital for cardiac catheterization. On admission she was obtunded with no apparent signs of cyanosis. Pulse was 104, respirations were 40 on the ventilator, and her temperature was 98.8 0 . The previous blood pressure, however, had shown that the blood pressure in the upper extremities were 60 mm Hg and 40 mm Hg in the lower extremities. Physical examination was unremarkable with the exception of the cardiac findings. These included an extremely prominent PMI and a Grade III loud, blowing systolic murmur heard best at the left sternal border with radiation to the axilla and the back. The pulses in Case Descriptions 271 the right and left arm appeared to be normal. The liver edge was about 3 cm below the costal margin. The diagnosis at that time included coarctation of the aorta with hypoplastic left heart syndrome to be ruled out. Cardiac catheterization was performed. There was a wide pulse pressure with no significant gradient across the aortic valve. Coarctation was demonstrated in the descending thoracic aorta. There was no ventricular septal defect. After catheterization the patient was apparently well and was weaned off of the respirator. Shortly thereafter she had a cardio• respiratory arrest with bradycardia. Although external massage and resuscitation were tried, she expired. The patient's laboratory values included a hematocrit of 36.5, hemoglobin of 12.9, sodium of 141, and potassium of 4.8. Her arterial blood gases while on the respirator were p02 of 210, pC02 of 13, and a pH of 7.17.

Autopsy Diagnosis Coarctation of the aorta (preductal); patent ductus arteriosus; acute passive congestion of the liver and spleen; medial hypertrophy of pulmonary arteries and arterioles.

Case 170 (A954, 7 days, 27 May 71) Clinical History This 7-day-old boy was noted to be mildly cyanotic after delivery and remained so even when on 30-40% oxygen. Cardiomegaly was present on X ray with a decrease in pulmonary vascular markings. There was evidence of right ventricular hypertrophy. The patient was then transferred to University Hospital for further workup. On admission, physical examination showed a markedly cyanotic child with some jaundice. Temperature was 98°, pulse was 150, respirations were 60, and blood pressure was about 60-80 mm Hg in all extremities. The chest was symmetrical, and the lungs were clear to auscultation. Cardiac examination showed no abnormal lifts or thrills; S 1 was normal and S2 was single. There were no systolic, diastolic, or ejection murmurs or third or fourth heart sounds. The liver and spleen were not pal• pable. The pulses were considered normal. Chest X ray showed a boot-shaped heart with cardiomegaly and decreased pulmonary vascular markings. Also the major por• tions of the liver appeared on the left side, and the stomach was on the right side. Electrocardiogram showed an axis of +220. A scan was done showing a transverse liver with a questionable right-side posterior spleen. Arterial blood gases showed a p02 of 13 mm Hg on 40% oxygen. Repeat arterial blood gases showed an increase in the p02 to 27. The electrolytes included a sodium of 148 and a total bilirubin of 12.5. Cardiac catheterization demonstrated a hypoplastic right heart with no evidence of pulmonary arteries, no evidence of patent ductus arteriosus, and pulmonary blood flow via bronchial collaterals. Review of the angiograms altered the diagnostic impression to transposition of the great vessels, common atrium, bilateral superior vena cava, single ventricle, hypoplastic left pulmonary artery, and remnant of the right pulmonary artery emerging from the descending aorta. The conclusion was that this combination of anatomic structures excluded the possibility of palliative surgery. The child was given supportive therapy. On the 7th hospital day the child 272 Case Descriptions developed labored respirations with a rate of 42 and also severe retractions. Fifty percent oxygen was administered by mask, but the child later aspirated and went into cardiopulmonary arrest.

Autopsy Diagnosis Atrioventricularis communis; transposition of great vessels; pulmonary atresia; patent ductus arteriosus; patent foramen ovale; anomalous pulmonary venous drainage; persistent left superior vena cava; dextrocardia; right pulmonary isomerism; interventricular hemorrhage (secondary to chorioid plexus hemorrhage).

Case 171 (A2ll9, 2 days, 30 Sep 74)

Clinical History This 2-day-old girl became listless 6 hr after birth and 1 hr later had a cardiac arrest. Successful resuscitation was followed by labored respirations, bradycardia, and a second cardiac arrest. On physical examination the SI and S2 sounds were thought to be normal. A regular sinus rhythm with an S4 gallop was heard. She died at 2 days of age.

Autopsy Diagnosis Aortic and mitral atresia; hypoplastic left ventricle; right ventricular hyper• trophy; patent foramen ovale; patent ductus arteriosus; hypoplastic ascending aorta; pulmonary congestion and edema; focal pulmonary hyaline membranes.

Case 172 (A2154, 2 months, 29 Oct 74)

Clinical History This 2-month-old girl was admitted at 3 weeks of age with a diagnosis of pneu• monia. She was afebrile with a pulse of 150 and respirations of 50. Electrocardio• gram showed left ventricular hypertrophy. The chest X ray showed cardiomegaly with pulmonary infiltrates. Positive physical findings included a dysmorphetic right ear, mild conjunctivitis, right sternal-sternocleidomastoid hematoma, and a Grade III holosystolic crescendo murmur. Two days after admission the patient underwent cardiac catheterization which showed coarctation of the aorta, patent ductus arte• riosus, and a ventricular septal defect. She was started on digoxin and Lasix but continued to deteriorate and underwent surgery for repair of the coarctation and ligation of the patent ductus arteriosus. The ventricular septal defect was not repaired. A pulmonary band was placed around the pulmonary artery to reduce pulmonary artery pressure. She continued to have poor weight gain and also had intermittent episodes of severe congestive heart failure. Later a left upper lobe infiltrate and pleural effusion appeared. Both the effusion and infiltrate responded to antibiotic therapy. However, episodes of emesis with fever occurred. An abdominal series confirmed the diagnosis of necrotizing enterocolitis. This responded well to appropriate antibiotic therapy, both clinically and by X ray. Then the patient suddenly expired. Case Descriptions 273

Autopsy Diagnosis Transposition of great vessels with bulboventricular loop; interventricular septal defect; patent foramen ovale; patent ductus arteriosus (postsurgical ligation); sur• gical band on pulmonary artery; chronic passive congestion of liver; Meckel diverticulum.

Case 173 (A2206, 4 months, 10 Jan 75)

Clinical History This 4-month-old girl was seen for failure to thrive and was subsequently diagnosed as having Lissencephaly syndrome. She developed acute meningitis and expired.

Autopsy Diagnosis Lissencephaly syndrome comprising diarrhea, microcephaly, hirsutism, sacral prominence, anteverted nares, short perineal body, right low-set ear, left epicanthal fold, wrinkling skin over forehead, and micrognathia; congenital heart disease comprising pulmonic atresia, interventricular septal defect (supra crista), and patent foramen ovale; biventricular hypertrophy; polysplenia; follicular cysts, ovary; acute passive congestion of lungs and liver.

Case 174 (A 75-20,4 months, 23 Jan 75) Clinical History This 4-month-old boy was admitted at 5 weeks of age for persistent vomiting. A pyloromyotomy was done for suspected pyloric stenosis. During this hospital admission a murmur was heard. He was transferred to University Hospital for cardiac catheterization which showed double-outlet right ventricle, ventricular septal defect, transposition of the great vessels, hypoplastic aortic arch, discrete preductal coarctation of the aorta, patent ductus arteriosus, and hypo kinetic pulmonary hypertension. He was treated medically with digoxin, aldactone, and Diuril. He was thought to be inoperative. He was readmitted at 2 months of age for digitalis toxicity. Electrocardiogram on this admission showed premature supraventricular beats. He was readmitted for failure to thrive and congestive heart failure and responded to medical therapy. Later he became lethargic and congestive heart failure reappeared. He was readmitted for recatheterization and possible surgical therapy. On admission physical exam showed a pulse of 130, respirations of 75, and blood pressure of 120 mm Hg in the left arm and 70 mm Hg in the left leg. He was a chronically ill boy but was not cyanotic even when crying. Cardiac examination showed a Grade III systolic murmur over the apex, axilla, and base, best heard at the left sternal border. He had good brachial and radial pulses but barely palpable lower extremity pulses. The liver was 3-4 cm below the costal margin. The remainder of the physical exam was within normal limits. During cardiac examina• tion he had seizures and a cardiac arrest but was successfully resuscitated. His arterial blood gases were pH of 7.35, p02 of 53, and pC02 of 41. His pulse did not 274 Case Descriptions

decrease below 120 beats/min. His temperature rose to 101 0 and respirations increased to 80-90. He began to have rales in the left posterior chest. His arterial blood gases were now p02 of 49, pC02 of 32, and pH of 7.36. Chest X ray showed a right upper lobe pneumonia secondary to aspiration. He was treated with antibiotics. Electrocardiogram showed 12-20 extrasystoles per min which was thought to be due to digitalis toxicity. A day later he decompensated considerably and was in severe congestive heart failure. His weight had increased and his liver was now 4 cm below the costal margin. Renal function was maintained. A second cardiac catheterization was done which showed double-outlet right ventricle, transposition of the great vessels, ventricular septal defect, hypoplastic aortic arch, coarctation of the aorta, patent ductus arteriosus, and pulmonary hypertension. After catheterization he was listless and was taken off all antibiotics. Chest X ray showed cardiomegaly, diffuse pulmonary vascular, and parenchymal changes. Although his condition continued to deteriorate, he was taken to surgery, at which time patch closure of the ventricular septal defect, a Mustard procedure, ligation of the patent ductus arteriosus, and placement of a IO-mm woven dacron graft in the ascending aorta to the descending aorta were undertaken. Aortic graft construction was done under deep hypothermia. He was then warmed, and the remainder of the procedure was done under cardiopulmonary bypass. He came off the pump with the aid of Isuprel and a cardiac pacer but remained anuric. The following day he had increased metabolic acidosis and lost femoral pulses. Repeat catheterization studies showed the aorta to be extremely small and to have no forward flow. The left subclavian artery did not fill, and there was retrograde flow into the aortic bed. There was no obstruction of the aortic graft. Since these changes could be due to arterial spasm, nitroprussides were tried. Cardiac status did not change, and the patient expired.

Autopsy Diagnosis Transposition of the great vessels; interventricular septal defect (infracristal); atrial septal defect (status post-Mustard procedure); patent ductus arteriosus (status postsurgical ligation); coarctation of aorta (preductal); hypoplastic right ventricle; medial hypertrophy of pulmonary arterioles; severe acute passive congestion of lung, liver, spleen, and viscera.

Case 175 (A75-261, 1 day, 25 Nov 75) Clinical History This I-day-old baby girl was transferred to University Hospital because of a heart murmur, cyanosis, and heart failure. The diagnosis of hypoplastic left ventricle was thought most likely, although the sonogram was nondiagnostic. Cardiac catheterization was undertaken, and the girl died during the procedure.

Autopsy Diagnosis Truncus arteriosus; interventricular septal defect; atrial septal defect; right ven• tricular hypertrophy; hemopericardium. Case Descriptions 275

Case 176 (A76-7, I hour, 10 Jan 76)

Clinical History This I-hr-old boy was the product of a full-term pregnancy in a primigravida mother. The pregnancy was complicated by mild toxemia. The labor was uncompli• cated with a vacuum extraction performed. The infant was born with a low Apgar due to bradycardia and apnea. Intubation was not successful because of tracheal obstruction. He expired within I hr of birth.

Autopsy Diagnosis Tracheoesophageal fistula (H type) without esophageal atresia; laryngo• tracheoesophageal cleft, cartilaginous tracheal web, distal to vocal cords and proximal to fistula; interventricular septal defect; extrahepatic biliary atresia; gall• bladder hypoplasia; duodenal atresia; imperforate anus; total renal dysplasia; coccy• geal spina bifida occulta with meningomyelocele; pulmonary hypoplasia and polys• plenia; normal chromosome analysis.

Case 177 (A75-168, 17 days, 18 Jul 75)

Clinical History This 17-day-old baby boy was the first of twins and weighed 3 lb 12 oz at birth. He required several exchange transfusions and developed the murmur of patent ductus arteriosus with an increasing pC02• He was taken to surgery, and a vessel thought to be the ductus, noted to be unusual in position, was ligated. Postoperatively the murmur was unchanged, and the baby was transferred to University Hospital for cardiac catheterization. At catheterization the findings showed an atrial septal defect, a ventricular septal defect, patent ductus arteriosus, hypoplastic aortic arch with tight coarctation, ligated left pulmonary artery, and fenestrated aortic valve. The baby died the following day.

Autopsy Diagnosis Coarctation of the aorta (preductal); patent ductus arteriosus; interventricular septal defect; patent foramen ovale; status postsurgical ligation of left pulmonary artery; atelectasis and congestion of lungs.

Case 178 (A 76-192, 21!2 months, 10 Sep 76)

Clinical History This 2 1/2-month-old boy had been generally well except for a transient episode of cyanosis at I week of age. Two days before admission he had difficulty breathing, decreased feeding and vomiting. He presented to University Hospital in congestive heart failure. On admission he was an irritable pale infant in moderate respiratory distress. The pulse was 200 and thready. He was afebrile, respirations were 80-100, blood pressure in the upper extremities was 130/70 bilaterally, and 100 by flush in the lower extremities. Rales were present throughout with intercostal and subcostal 276 Case Descriptions retractions. Cardiac examination showed a bounding precordium with S4 gallop, a Grade II-III early systolic ejection murmur at the bases, which radiated to the in• frascapular area posteriorly. The liver edge was 3 cm below the right costal margin. The right brachial pulses were less than the left. Femoral pulses were less than the upper extremity pulses. The diagnostic impression was congestive heart failure secondary to congenital heart disease with possible coarctation of the aorta, aortic stenosis, and ventricular septal defect. The electrocardiogram had an axis of + 120 and suggested right ventricular hypertrophy. Chest X ray show cardiomegaly with left ventricular predominance and pulmonary edema. Cardiac catheterization showed a large ventricular septal defect with 3.5: 1 left-to-right shunt. No coarcta• tion of the aorta was identified. Initial blood cultures grew S. epidermidis. He received a course of antibiotics and responded well. Later he had fever and on chest X ray showed a right upper lobe pneumonia which resolved on medical management. He continued to have spiking temperatures to 103° and subsequently developed right otitis media which was treated with antibiotics. With persistent failure to thrive, surgical therapy was undertaken to close the ventricular septal defect by patch. Postoperatively he appeared to do well but then developed cyanosis and hemorrhagic pleural effusions. The day after operation he was found with no palpable pulses and fixed dilated pupils. Resuscitative efforts were unsuccessful.

Autopsy Diagnosis Ventricular septal defect (status postsurgical closure); patent ductus arteriosus; hemomediastinum; hemorrhagic pleural effusions; pulmonary congestion.

Case 179 (A 76-126, I day, 10 Jun 76)

Clinical History This I-day-old boy weighed 4 lb 9 oz at birth and had a diagnosis of trisomy 13-15 made at birth. He died within 1 day.

Autopsy Diagnosis Transposition of the great vessels; interventricular septal defect; atrial septal defect; microcephaly with arrhinencephaly; polydactyly with partial syndactyly; microphthalmos; bilateral severe cleft lip and palate; cutis aplasia of the rostral occiput.

Case 180 (A78-258, 7 days, 25 Nov 76) Clinical History This 7-day-old boy was noted to be cyanotic at birth and required oxygen. He had grunting and mild retractions. After placement of an umbilical artery line, the p02 of the descending aorta was 37 mm Hg even while on 100% O2. Simultaneous right brachial artery and descending aorta blood gases on room air showed a p02 in the right brachial artery of 31 mm Hg and in the descending aorta of 29 mm Hg. Electrolytes were normal. Calcium was 9.6, glucose was 49 g/l00 ml, and hematocrit was 58%. On physical examination he was a well-formed infant male in no respira- Case Descriptions 277 tory distress. His temperature was 100°, pulse was 145, respiratory rate was 50, and blood pressure was 50 mm Hg by flush. There were no cranial detected. The chest was clear to auscultation, and there were no retractions. Cardiac examination showed a right ventricular lift with hyperactivity, SI was normal, S2 was either single or split with a widely split very faint P2. There was a Grade II-III holosys• tolic murmur which extended into late systole along the lower left sternal border. There was a Grade II systolic ejection murmur along the upper left sternal border. There was 2+ cyanosis but no edema. Pulses were normal throughout. Chest X ray showed a diffuse interstitial infiltrate in the lung parenchyma. The aorta was located on the right side but there was no cardiomegaly. Electrocardiogram showed an axis of + 120-150 with a rate of 145 and sinus rhythm. Severe right ventricular hypertrophy was noted by the Q-R pattern in the right precordium. Cardiac catheterization was performed that showed L-transposition of the great ves• sels, pulmonary atresia and total anomalous pulmonary venous return to an infradiaphragmatic position. On the 6th day of life the boy was taken to surgery for corrective repair, but he expired during the procedure.

Autopsy Diagnosis Cor biloculare with common atrium, common ventricle and common atrioven• tricular valve; L-transposition of the great vessels with a D-loop; pulmonary atresia; total anomalous pulmonary venous drainage below the diaphragm to the inferior vena cava; accessory pulmonary artery from the aorta to the left pulmonary artery; left-side inferior vena cava to the left portion of the common atrial chamber; right pulmonary isomerism; situs inversus of the abdominal viscera; asplenia.

Case 181 (A77-50, I day, 26 Mar 77) Clinical History This I-day-old boy was found by chest X ray after birth to have a congenital diaphragmatic hernia. This was surgically repaired. Later, in the recovery room, an elevated p02 was measured in the umbilical vein, and immediate angiography showed the patient to have a subdiaphragmatic total anomalous pulmonary venous drainage as well as an atrial septal defect and a patent ductus arteriosus. These were also corrected surgically. The patient had very poor myocardial function postopera• tively and expired soon afterward.

Autopsy Diagnosis Left diaphragmatic hernia (postsurgical correction), total anomalous pulmonary venous drainage with common pulmonary vein draining subdiaphrag• matically into inferior vena cava; atrial septal defect; patent ductus arteriosus.

Case 182 (A 77-64, 2 months, 22 Apr 77) Clinical History This 2-month-old baby girl did well after birth although chest X ray showed bowel in the right chest as well as dextrocardia and a possible left lower lobe infil- 278 Case Descriptions trate. She was transferred to University Hospital for further workup. On admission, temperature was 98.6°, pulse was 120, respiratory rate was 50, and blood pressure was 75 mm Hg in the left arm and 68 mm Hg in the left leg. Cardiac examination showed a regular sinus rhythm with a PMI on the right without murmurs or abnormal sounds. The remainder of the physical exam was unremarkable. Chest X ray showed dextroversion with bowel in the thorax. A thoracic aortogram showed a left-side aorta, a retroesophageal right subclavian artery, a patent ductus arteriosus, probable asplenia. a transverse liver, an intrathoracic herniation of the stomach along with a portion of the liver, and hypoplasia of the aortic arch. Cardiac catheterization showed an inferior vena cava emptying into a left hemiazygos vein, which emptied into the left superior vena cava, then into a coronary sinus, and finally into the right atrium. Dextrocardia was also present. An atrial septal defect was demonstrated, and a hypoplastic left heart was present. The path of the right pulmonary veins was not clear. A large patent ductus arteriosus with bidirectional flow was evident. The aortic arch was hypoplastic and left-sided. In addition, there was anomalous origin of the right subclavian artery. The liver was transverse. It was decided that in this patient her distal extremities were supplied by a patent ductus arteriosus, and, because of this, the patent ductus arteriosus was formalinized to maintain patency. Immediately postoperatively the patient developed congestive failure and was treated with fluid restriction and Lasix. The patient became febrile and required hyperalimentation. An intravenous pyelogram showed duplication of the left kidney with the left ureters meeting in a Y-shaped pattern. However, renal function was normal. Aspiration pneumonia developed postoperatively, and she was treated with antibiotics. During the last month of life her main problems were congestive heart failure and feeding difficulties. She expired in intractable congestive heart failure.

Autopsy Diagnosis Ivemark syndrome; patent foramen ovale; patent ductus arteriosus; coarctation of aorta (preductal); biventricular hypertrophy; left-sided inferior vena cava draining into coronary sinus; retroesophageal right subclavian artery; hiatus hernia, right-side; hypoplasia of right lung; polysplenia; double ureter ofleft kidney.

Case 183 (A 77 -194. 7 months, 20 Oct 77) Clinical History This 7-month-old girl was noted to be cyanotic immediately after birth. Chest X ray showed dextrocardia with decreased vascular markings. She subsequently had poor growth development. She was admitted to University Hospital at 4 months of age for diarrhea, but the workup was negative. She was next admitted at 7 months of age, 3 days before death, with recurrent diarrhea and cyanotic congenital heart disease. On admission, physical examination showed a cyanotic underdeveloped tachypneic child with clear lungs. An increased right parasternal impulse was noted with the main precordial activity over the right chest. Auscultation showed a normal SI, single S2, no gallop rhythms, and a Grade III continuous murmur, maximal at the lower left sternal border. The liver was 3 cm below the right costal margin. Case Descriptions 279

Peripheral pulses were normal. Chest X ray showed right ventricular hypertrophy, dextrocardia, left aortic arch, and normal pulmonary vasculature. The esoph• agogastric junction was located on the left. Stomach was midline and liver shadows were of equal size on both sides of the spine. A prominent convexity of the upper right cardiac border was noted suggesting transposition of the great vessels with inversion of the ventricles. Minor fissures were seen in both lungs. The echocardio• gram was suggestive of a single atrioventricular valve of the endocardial cushion defect type and pulmonic atresia. Cardiac catheterization undertaken the next day showed a single ventricle. single atrioventricular valve, transposition of the great vessels, and pulmonary stenosis. The patient was operated on to perform a Waterson shunt. Because of the distance between the aorta and the pulmonary artery, a right Blalock-Taussig repair was performed. During the procedure the patient developed bradycardia and asystole. She was unresponsive to epinephrine, calcium, atropine, and massage and died.

Autopsy Diagnosis Common ventricle; dextrocardia; single atrioventricular valve; pulmonic atresia; transposition of the great vessels; patent ductus arteriosus; persistent left superior vena cava; total anomalous pulmonary venous drainage via common trunk into ductus venosus to portal vein and inferior vena cava; right pulmonary isomerism; asplenia. Index

Accessory bronchus, 79, 80, 94-100, 119, 121, Aortic stenosis, 80, 177, 228, 263 122 Arteries Agenesis of lung, 110 accessory pulmonary, 18,21-24 Al1eurysm, pulmonary artery, 16, 23-31, 49, arterioles 54-58, 176 in increasing transpulmonary blood flow, pathogenesis, 23-31 70-73 roentgenogram, 28, 54 age, effect of, 72 Angiomatoid lesions, 22, 59-60 pressure, effect of, 73 Anomalies medial area, technique for determining, bronchial tree, 3, 79-114,119,121-143 10 viscera, 3,117-121, 175, 177. 192,206, elastic 258,261,266,277 diameter, technique for determining, 7 Anomalous coronary artery, left, 204, 242, medial thickness, technique for 250 determining, 7-8 Anomalous fissure ("split" left upper lobe), MIL (pa) ratio, technique for 79,80,94, 101-105, 123-127,223,254 determining, 8-9 Anomalous pulmonary venous drainage, muscular 79-116,169,175,177,187,189,192, in increased transpulmonary blood flow, 241,242,244,249,250 70-73 angiograms, 86, 87, 94-96, 104-106 age, effect of, 72 anomalous fissure, 128, 129 pressure, effect of, 73 asplenia with, 117, 189 medial area, technique for determining, bronchial diverticula in, 105-109, 131-136 10 dextrocardia with, 79, 81. 84, 87, 92, 103 pulmonary roentgenograms, 82, 84, 92, 103 in pulmonic stenosis, 14-17,28,29 partially anomalous, 81, 86-91, 94-98, tortuosity of, 47-52 100-102,134-137,177, 216, 244, 245, Arteriovenous shunts, 60 247, 256, 258, 270, 272 Asplenia, 79, 80,117-121,175,189,192,258, pulmonary isomerism with, 79-93 277, 279 left, 79-81, 85, 88-91. 93, 97-99, 132, anomalies associated with, 120 135, 256, 261 left superior vena cava in, 120 right, 79-92, 100-102, 107-109, 175, Atrial septal defect, 150-157, 160, 161, 163, 189, 258, 272, 277, 279 164,166-169,171,172,175,177,178, totally anomalous, 81-92, 105-108, 189, 184,189,193,196-198,200,202,207, 242,250, 252, 253, 261, 277,279 208,210,211,213-215,217,219,220, Aortic atresia, 80, 172, 177. 193, 229, 242, 223,228,229,231,234,236,238,242, 247,255,256,260,261,263,267,268, 248-250,252-256,258-263,267,268, 272 270, 272-278

281 282 Index

Atrioventricularis communis, 80, 86, 181, Coarctation of aorta (cont.) 189,206,213, 223, 242, 254, 258, 261, 235, 236, 238, 254-256, 260, 263, 265, 264, 269, 272 268,271,274,275,278 asplenia with, 117 polysplenia with, 117 polysplenia with, 117 Common ventricle, 80,174,176,191,192, pulmonary isomerism with, 86, 115, 116, 228,235,249,251,263,266,267,279 254 aneurysm in, 55-58 roentgenogram, 115 bronchial arteries in 58, 59 Azygos lobe, 80, 109, 137-139,244 roentgenogram, 53, 54 roentgenogram, 138 Cor biloculare, 162,277 angiogram, 104-106 Blood flow, transpulmonar} pulmonary isomerism with, 113, 114 increased, I, 43-78 roentgenogram, 103, 110, III angiomatoid lesions in, 59-60 bronchial arteries in, 56-59 Double outlet right ventricle, 232 conclusions, 73-74 Down syndrome (trisomy 21),254,264,269, features, 43-61 270 plexiform lesions in, 59-60 normal or decreased, I, 13-42 Ebstein malformation, 234 bronchial arteries in, 15-24 Edward syndrome, see Trisomy 18 conclusions, 39-40 Endocardial fibroelastosis, 80, 161, 193, 204, features, 14-31. 15-30 248, 255, 263, 265 Bronchi accessory, 79, 80, 94-100,119,121,122 Glenn procedure, 30, 31, 214, 233 anomalous fissure ("split" left upper lobe), 79,80,94,101-105,123-127,223,254 Hypoplasia oflung, 109-113, 140-143, 161, diverticula, 85, 98, 105-109 249, 275, 278 supernumerary, 94-95 roentgenogram, 140 Hypoplastic left heart syndrome, 140-143, Cast 159,161,172, 177, 178, 186,211,220, gelatin technique, 6-7 229,241,242,247,251,255,256,260, clearing (Spalteholz). 7 263, 268, 272 Gough-Wentworth section, 7 hypoplasia of lung in, 140-143, 161 mass (Schlesinger) 6 pulmonary artery in, 46. 47 vinylite technique, 5-6 bronchial circulation. 5 Ivemark syndrome, 120, 278 pulmonary vein, anomalous, 6 "Cavitation" phenomenon in aneurysm formation, 25-29 Left superior vena cava, 87, 107, 154, 162, Circulation 169, 178, 181, 192,206,211,216,230, bronchial 235, 250, 256, 258, 262-265, 272, 278, collateral. 51-59 279 cast technique, 5 in asplenia, 120 collateral, 13, 15-17, 19, 20, 26, 27 Lissencephaly syndrome, 273 age, effects of, 18-20 shunts, effects of, 20-21 Mitral atresia, 159, 186,211,220,235,242, pulmonary, and patent ductus. 45 247, 249, 254, 256, 260, 263, 268, 272 Coarctation of aorta. 80, I 10, 141, 152. 161, M / L (pa) ratio 163, 180, 183. 185. 196. 211, 220. 228. age, effects of, 9 Index 283

M / L (pa) ratio (cont.) Pulmonary atresia (cont.) in increased transpulmonary blood flow. azygos lobe in, 138, 139 69-70 collateral circulation in, 18, 139 technique for, 8-9 Glenn procedure in, 30 pulmonary isomerism with 100-102 Patent ductus arteriosus, 156, 160, 161. 163, roentgenogram, 138 164,170,172,176-178,185,191. 193. Pulmonary capillaries in increased 196, 198,200,208,210-214,216.220, transpulmonary blood flow, 71 225,228-231,233.235,236,240.242, Pulmonary isomerism, 79-93,98-102, 108, 248-250, 252-256, 259-263, 265. 267, 109, 113, 114, 189,254,256,258,260, 268, 271-279 263-265c, 272, 277, 279 Patent foramen ovale, see Atrial septal defect left, 79-81. 85, 88-91, 93, 98-99, 254, 256, Plexiform pulmonary lesions, 22. 59-60 260, 263-265 Polycythemia, thrombosis in. 20 bronchogram, 85, 88, 89, 93 Polysplenia, 79, 80,117-121,177.178,181, right, 79-92, 100-102, 108, 109, 113, 114, 22~ 235, 242, 24~ 261, 265, 273. 27~ 189, 258, 272, 277, 279 278 Pulmonic stenosis, 153, 154, 167, 181, 194, anomalies associated with, 121 196,200,203,220,232,253,258,259, Primary pulmonary hypertension. 172. 195 266, 267 angiogram, 50 aneurysm in, 28, 29 cast, 51 angiogram, 28 roentgenogram, 48 experimental, 13-14 Pulmonary arteries aneurysm, pulmonary artery, 14 accessory, 18,96-98,245.247.277 collateral circulation, 14 aneurysms of, 16, 23-31. 49, 54-58. 176 cystic medionecrosis, 14 arterioles, 3 pulmonary artery, 14, 15-17,28,29 in increased transpulmonary blood flow, changes of elastin in, 35 70-73 roentgenogram, 15 age, effect of. 72 thrombosis in, 20-21 pressure, effect of. 73 elastic, 2 collagen content, 35 Ratios diameter, technique for determining, 7 diameter, pulmonary artery/aorta, 31-35, elastic content, 35, 64 61-64 medial thickness, technique for age, effects of, 31-34, 61-62 determining, 7-8 coarctation effects of, 31, 34, 35, 63 M / L (paj ratio, 8-9 and flow, 43 muscular, 3 in increased transpulmonary blood flow, in increased transpulmonary blood flow, 61-64 70-73 in normal or decreased transpulmonary age, effect of. 72 blood flow, 31-35 pressure, effect of, 73 patent ductus arteriosus, effect of, 31, in pulmonic stenosis, 14, 15-17,28,29 34, 35, 63 pUlsations, 43 medial thickness, pulmonary artery/aorta, tortuosity of. 47-52 35-39,64-70 Pulmonary atresia, 159, 163, 170. 175, 183, age, effects of, 35-39, 64-67 192,200,206,214,241. 262, 272. 273, growth, effect of, 37-39 277, 279 in increased transpulmonary blood flow, angiogram, 21 64-70 284 Index

Ratios (cont.) Transportation of great vessels (cont.) medial thickness (cont.) 263, 267, 268, 270, 272-274, 276, 277, in normal or decreased transpulmonary 279 blood flow, 35-39 bronchial arteries in, 56 and pressure, 67-69 corrected, 225 pulmonary artery in, 45 Sequestration, 107-109 roentgenogram, 44, 110, 111 Treacher-Collins syndrome, 212 Tetralogy of Fallot, 80, 149-152, 156, 160, Tricuspid atresia, 80, 157, 166, 167, 178, 197, 164,168, 182, 190, 195,215,221,223, 200,214,236,262,267 225, 234, 239, 241, 254,257, 264 Tricuspid insufficiency, congenital, 231 accessory bronchus, 119 Trisomy B, 254 angiogram, 118 Trisomy D (21),254,264,269,280 anomalous fissure in, 123-126, 223 Trisomy 18, 259 collateral circulation, 14, 18-20,26,27 Truncus arteriosus, 250, 252, 256, 260, 274 elastin content of pulmonary arteries, 64 pulmonary isomerism in, 80, 122 Ventricular septal defect, 80, 155-157, 159, roentgenogram, 25.117,123 163,166,171,172,175,176,178,180, Thrombosis in pulmonic stenosis, 20-21 183-188, 194, 196, 197, 199-201, Tracheoesophageal fistula, 275 207-210,212,215,218,220,230,232, Transposition of great vessels, 155, 156, 158, 234, 236-238, 240-242" 244, 248, 160,163,171,174,176,186,187,191, 250-254, 256, 258, 259, 261, 262, 265, 197,198,200.202,208,210,211, 216, 267, 268, 273-276 217,233,236,238,248,249,251,253, pulmonary arteries in, 52