Special Article &&&&&&&&&&&&&& the History of Congenital Diaphragmatic Hernia from 1850S to the Present

Special Article &&&&&&&&&&&&&& The History of Congenital Diaphragmatic Hernia from 1850s to the Present

Sergio G. Golombek, MD, FAAP stomach, small intestines, and part of the larger omentum were lying in the left pleural cavity; both the phrenic nerves were normal. Alderson reported a fatal case of diaphragmatic hernia with Congenital diaphragmatic hernia (CDH) is believed to result from symptoms of pneumothorax. The stomach, spleen, omentum, and incomplete fusion of the pleuroperitoneal membrane, and passage of the transverse colon were found lying in the left pleura. abdominal contents into the chest. A historical review of the literature on The most extensive paper on this subject was contributed by 5 this subject shows a wide divergence of opinion on the etiology of the Bodwitch, reporting an instance in the Massachusetts General various types of CDH, and on the recommended treatment. A variety of Hospital, giving a numerical analysis of all the cases of this affection theories regarding its causes and the optimal way of approaching it have found recorded in the writings of medical authors between the years been published from the mid 19th century through the 20th century, and 1610 and 1846. are reviewed in this article. Hillier described an instance of CDH in which nearly all the small Journal of Perinatology (2002) 22, 242–246 DOI: 10.1038/sj/jp/7210701 intestines and two thirds of the large intestines passed into the right side of the thorax. O’Dwyer,7 a New York surgeon, eloquently described an operation for the relief of CDH. INTRODUCTION Congenital diaphragmatic hernia (CDH) is a life-threatening ‘‘A child, at 3 1/2 years, had symptoms supposed to indicate condition that occurs with a frequency of approximately 1/3000 extensive empyema of left side, for the relief of which an opening was made in the 6th intercostal space. The escape of births, when the fetal diaphragm fails to develop normally. The a loop of small intestine through this opening showed the survival rate for infants with hernias of the foramen of Bochdalek real nature of the case. varies from institution to institution; but overall, it has remained at ...When the diaphragm was allowed to resume its position, about 50% for nearly half a century, despite advances in neonatal after the completion of the operation, the pressure from 1 intensive care, anesthesia, and surgery. below was so great that it bulged upward, so as to fill at least half the pleural cavity. The hernia being probably EARLY ANATOMIC AND SURGICAL UNDERSTANDING congenital, and the whole mass of intestine, with the exception of the descending colon, having occupied the chest It was believed that, after birth, progressive compression of the so long, there was no sufficient room for them in the lung and shift of the mediastinum by gaseous expansion of the abdominal cavity. herniated intestine was the sole pathological mechanism. ... Death occurred rather suddenly six hours after the Bochdalek’s hernia was reported by Lawrence as a ‘‘congenital operation, at the very time that he appeared to be doing well. deficiency of the muscular fibers of the left half of the diaphragm At the autopsy the edges of the wound in the diaphragm were with displacement of the stomach.’’ The patient died of double found somewhat separated, and in all probability the sutures 2 would have cut completely through in twenty-four hours pneumonia. This was followed by several case reports in the last 7 half of the 19th century.3–7 Dittel reported unilateral defect in had the patient lived so long. ’’ the diaphragm of an infant who died soon after birth. The On the basis of a case successfully treated, and a study of others reported, Walker8 came to the interesting conclusions summarized in Table 1, considering they were written at the beginning of the 20th The Regional Neonatal Center, New York Medical College, Westchester Medical Center, Valhalla, century. NY, USA. Of the 118 cases collected by Livingston, 83 were on the left side, Address correspondence and reprint requests to Sergio G. Golombek, MD, FAAP, The Regional 18 on the right, 4 were central, 2 were double, in 1 the diaphragm Neonatal Center, New York Medical College, Westchester Medical Center, Valhalla, NY 10595, USA. was absent.

Table 1 The Conclusions of Walker8 on the Treatment of CDH The embryological development of CDH was well described by Keith ,13 confirming Holt’s summary of symptoms. (1) In all cases of so-called internal strangulation, one should always think of the possibility of a diaphragmatic hernia. (2) When the physical examination reveals the diaphragmatic hernia as ‘‘In the course of the development the mouth of the probable, an operation is imperative when the symptoms of pleural diverticulum comes to lie in front of the neck of obstruction are present. the 12th rib — its site being marked by the hiatus (3) In recent cases, if the diagnosis had been made early, laparotomy is between the crural and costal fibers of the diaphragm. probably the better operation. The mouth of this sac becomes closed by the thickening (4) In old cases, on account of the difficulty of reducing the gut, ligating the sac, and stitching the rent in the diaphragm, the transpleural of the peritoneum at the pleuroperitoneal junction before route is preferable. the end of the 2nd month of development. Here again the (5) If, after making a laparotomy, the gut cannot be reduced, a plastic properties of the peritoneum secure the closure of thoracotomy is justifiable. the hernial sac. If the opening fails to close, then the contents of the abdomen grow or are pressed through the pleuroper- ‘‘If a large deficiency exist, infants may live but a few itoneal passages, compressing the lungs. It is exceedingly hours; with smaller ones, life may be prolonged rare for a hernia to occur on the right side, for the indefinitely. Booker’s patient lived 2 1/2 months with liver serves to block the passage; but it is otherwise on nearly all the small intestine and omentum and the the left side; hence the usual CDH lies on the left side, transverse colon in the thorax [Arch Pediatrics vol 14 p and the protruding organs are those which occupy the 649] and Northup’s patient [Arch of Pediatrics vol 9 p left hypochondrium and umbilical regions of the 130], who died at 3 1/2 years of intercurrent disease, had abdomen.’’ several coils of the ileum, the cecum, and the appendix in the chest. The symptoms are in all cases obscure, the only Few years later, Hedblom,14 a surgeon from Madison, WI, reported frequent one being dyspnea, sometimes constant, some- a study on 378 cases in which operation was performed, from under 1 times in severe paroxysms resembling asthma, those being year up to 80 years of age. His cases were collected from the Mayo apparently produced by an accumulation of gas in the Clinic (19 patients) and from the literature (359 patients). He thoracic part of the intestine. The physical signs are those described the classification of diaphragmatic hernias (congenital, of pneumothorax, generally on the left side, with acquired, traumatic, and indeterminate); the age and sex of the displacement of the heart to the right. The condition is 9 patients; etiology; contents of hernia; symptoms; physical signs; not amenable of treatment. ’’ diagnosis; indications and types of operation; site of hernia; operative Gilmore10 described one case where the defect was located at the procedure; results, including mortality (127 deaths, a surprisingly left anterior border of the diaphragm. ‘‘These cases are very unusual. low operative mortality of 33.6%); causes of death and recurrence. As may be imagined, the physical chest signs thus produced are most This was ‘‘one of the most comprehensive papers on this subject,’’ unusual and puzzling.’’ according to Dr. Leon T. LeWald, from New York, who discussed the Feer11 incorrectly concluded that it occurs immediately after birth study in the same issue of the Journal of the American Medical and that nothing was to be hoped for from treatment. He described Association. the symptoms as those of severe asphyxia, occurring paroxysmally, and in many cases resulting in death soon after birth. Table 2 Summary and Conclusions of Hume12

‘‘Tympany and absence of respiratory sounds are noted on (1) Diaphragmatic hernia may be classified as: the affected side of the thorax, and cardiac dullness (a) Traumatic: (i) true (ii) false disappears or is pushed to the right. The retraction of the (b) Congenital: (i) true (ii) false abdomen is characteristic. In some cases, the condition gives (2) Congenital hernia occurs through the left dome most commonly, to a no premonitory symptoms but develops suddenly with less extent through the esophageal orifice. In other situations, it is evidence of internal strangulation. In the newborn, nothing but rarely met with in adult life. (3) Hernia through the hiatus pleuroperitonealis takes place before the is to be hoped for from treatment; in older children only very closure of that opening in the embryo. extensive operations, involving resection of ribs, replacement (4) Hernia though the dome of the diaphragm is due to some primary of the hernial content and closure of the opening, are congenital ectopia of viscera, occurring at the time of the successful.’’ formation of the diaphragm, and sometimes associated with incomplete rotation of the intestine. 12 (5) Hernia through the esophageal orifice is due to failure of the tailward Hume, a London surgeon, collected 35 cases of undoubted CDH migration of the stomach, or in some cases to the persistence of a found in the English, French, and American publications during the para-esophageal recess. years 1910 to 1921. His article ends with the summary and (6) Surgical treatment is palliative only. Thoracotomy is the route of election. conclusions listed in Table 2.

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PHYSIOLOGICAL CONCEPTS open ether as the best anesthetic. ‘‘The hernia can easily be reduced A physiological awakening was described by Holt and Howland,15 from below, but only with extreme difficulty from above. The adding that the symptoms were usually cyanosis, rapid respiration, a pneumothorax should be removed at the conclusion of the sunken abdomen, an overdistended thorax, and dyspnea. operation.’’ They concluded that diaphragmatic hernia could no longer be ‘‘Children often live but a few hours. In those who survive a regarded as a pathologic curiosity because more than a thousand longer time, dyspnea is generally the most prominent cases had been recorded in detail and many hundreds had been symptom. It may be constant, or occur at intervals in severe subjected to operation; they also added that the acquired type of paroxysms, or there may be attacks of cyanosis produced by hernia was much more common that the congenital. an accumulation of gas in the stomach or the thoracic part of the intestine. The physical signs vary much from time to Development of Modern Surgical Approach time. Sometimes those of pneumothorax are present; at Yet, it was not until 1945 that the issue of integrating an others there is so much dullness with the feeble respiratory understanding of pathophysiology as a basis for timing surgery was sounds, as to suggest fluid. A positive diagnosis can often be examined by Donovan19 in 17 cases, using CXRs to identify gas made by means of the X-ray after the administration of bismuth. The condition is not amenable of treatment.’’ bubbles, collapsed lung, and displacement of the heart away from the affected side, recommending early repair ‘‘as the herniated structures Bettman and Hess16 reported a successful surgery on an infant, may become too large for the abdomen to receive them.’’ aged 3 1/2 months, with an incarcerated diaphragmatic hernia. ‘‘As far as we know, this is the youngest patient with diaphragmatic ‘‘Diaphragmatic hernia is treated by operation repair as soon as possible. In one case of his series, delay resulted in fatal hernia to be operated on successfully.’’ intestinal obstruction. Another reason for operating immediately is that the herniated structures may become ‘‘An abdominal as well as an intercostals incision was too large for the abdomen to receive them.’’ necessary to reduce the hernia. The ribs that formed the arc of the diaphragmatic defect were fractured, thus reducing the arc and allowing an imbrication of the diaphragm. No In this series of 17 cases, four patients died and the rest recovered. further pressure apparatus was found necessary to overcome A summary of his conclusions is seen in Table 3. the effects of the wide opening in the pleural cavity than the Donovan’s conclusions were affirmed in a later paper by Cresson.20 ordinary ethylene–carbon dioxide–oxygen anesthetic machine. Intrathoracic drainage was not used. The ‘‘Diaphragmatic hernias are usually diagnosed at birth, homolateral lung readily expanded and filled the entire roentgenograms being valuable diagnostic aids. Surgical cavity formerly occupied by intestine. The operation for repair should be performed transabdominally. Closure of the diaphragmatic hernia of the lateral type here discussed is a skin of the abdominal wall may be essential to permit return feasible operation. The fact that the child’s condition had of the abdominal contents to the peritoneal cavity without been considered hopeless and that arrangements had actually been started for the funeral was not the least dramatic feature of the case.’’ Table 3 Summary of the Conclusions of Donovan19

17 (1) Congenital diaphragmatic hernia occurs more often than was Greenwald and Steiner confirmed that CDH ‘‘is not as formerly suspected, and it should be ruled out in all cases infrequent as is generally believed,’’ while presenting an additional showing obscure chest and upper abdominal symptoms. case of true nontraumatic diaphragmatic hernia of the right side (2) The symptoms of congenital diaphragmatic hernia vary a great deal. They may be either cardiac, respiratory, gastro-intestinal, or a in a newborn infant. The diagnosis was made during life and combination of all three. confirmed at necropsy. They thought ‘‘it was advisable to review (3) Physical signs in the chest are often so confusing that the diagnosis the literature from 1912 to the present time and to collect reports may be missed if a roentgenogram is not taken. (4) Surgical repair of the hernia should be advised immediately for all of the cases occurring in infants and children up to 10 years of cases where either small or large intestine is in the chest because age, in an attempt to establish the symptomatology of this disease of the danger of intestinal obstruction. and to advise, if possible, methods of diagnosis.’’ They divided (5) The author preferred the abdominal approach through a subcostal incision, with exposure of the phrenic nerve in the neck 48 hours diaphragmatic hernia into three groups (congenital, acquired, and before repair. Many surgeons prefer the thoracic approach. traumatic), depending on the age of the patient and the (6) Positive pressure or intratracheal anesthesia is very desirable. predominating symptoms. (7) All patients should be kept in an oxygen tent for several days after Hope of successful intervention came when Barret and Wheaton18 operation. stated that a certain number of cases of CDH occurring in infants (8) Fluid requirements should be maintained after operation. could be cured by surgical intervention. They recommended (9) Pleural effusion may occur, and the chest should be aspirated as is necessary. laparotomy rather than thoracotomy as the method of choice, with

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Anatomical description 1850-60’s (ref. 2-6) organs. MRI can define spatial relationships of fetal lungs and measure lung volume. Using single-shot fast spin echo pulse 1880’s Surgical procedures 24 (ref. 7) sequence, Liu et al. were able to better define the exact anatomic position of the contents of the hernia in CDH, including the 1900-1920’s Clinical symptoms 25 Surgical recommendations position of the liver. Mahieu-Caputo et al. achieved MRI (ref. 8-11) measurements of fetal lung volume, calculating the expected lung Classification/surgical treatment 1920’s Embryological development confirming symptoms volume as a function of gestational age. She found that the (ref. 12-13) observed/expected fetal lung volume ratio was significantly lower 1923 Physiological understanding in CDH than in controls, postulating that in isolated CDH, fetal (ref. 15) lung volume measurement by MRI is a potential predictor of 1925 Surgical results (ref. 14) pulmonary hypoplasia and postnatal outcome. These findings were also confirmed by Paek et al.,26 who determined that MRI lung 1929-34 Successful surgery "CDH not longer a pathological curiosity" volumetry was predictive of outcome in fetuses with isolated left- (ref. 16-18) sided CDH, with a high interobserver agreement. Integrating pathophysiology as basis for timing surgey 1945-52 (ref. 19-20) The fetal sheep model of CDH opened the way to fetal intervention and endoscopic procedures (FETENDO) such as tracheal ligation/ Intensive preoperative resuscitation 27–32 1970’s (ref. 21) occlusion in humans, all in an attempt to promote ‘‘lung growth.’’ But this drive for accelerated growth was found to have Improved prenatal diagnosis and treatment 33 1990’s- Fetal intervention procedures negative effects on type II cells, which has prompted some present "CDH is a physiologic emergency, not a surgical one" (ref. 22-40) investigators to study whether antenatal steroids could reverse these adverse effects of tracheal occlusion on lung maturation.34,35 Figure 1. Milestones from advances in surgical, medical, and fetal The preoperative care now reflects the fact that the pulmonary management of CDH from 1850s to the present. hypoplasia and pulmonary hypertension caused by CDH represent a physiologic emergency, not a surgical one. The optimal timing of causing cardiorespiratory embarrassment. Secondary closure surgery for delayed repair, the most currently adopted approach, is of the abdominal wall may then be performed at six or more unknown.36–38 The use of HFOV for the treatment of CDH has proved months of age. This may be a lifesaving procedure when the to be a valuable technique for preoperative stabilization and for diaphragmatic hernia is large and the herniated intestinal intra- and postoperative respiratory treatment39–42 (for a timeline viscera have ‘‘forfeited their right to domicile.’’ However, of the publications referenced in this article, please see Figure 1). when this defect is not great, primary abdominal wall closure may be performed.’’ SUMMARY 21 In their paper of exactly 30 years ago, Boles et al. described Today, over 150 years since its description, we have begun to intensive preoperative resuscitation for newborn infants with severe understand its origins as early as 6 to 8 weeks of gestation, the respiratory distress due to CDHs to include (1) assisted ventilation potential of Hox gene involvement, severity of the development of a through an endotracheal tube, (2) nasogastric suction, (3) V/Q mismatch inversely proportional to the embryological timing, warming of the infant, and (4) insertion of a central venous line for and size of the defect. In utero repair with distending airway pressure, blood sampling and fluid administration. ‘‘The response to this ECMO, and postnatal care have built upon insights, but still can only management is closely followed by the mixed venous blood pH and separate these patients into survivors based upon responders to initial gas tensions as well as by the vital signs. The mortality in 14 babies support. Prevention of the embryologic origin or creation of new lung so managed was 28% as compared to a mortality of 76% for 21 growth is the only real cure. infants in whom emergency operations without preliminary resuscitation were performed.’’ References Current Diagnostic and Therapeutic Approach 1. Gregory GA, Kitterman JA. Lesions of the diaphragm. 19th ed. Rudolph’s Prenatal diagnosis has facilitated the early recognition of this Pediatrics. Appleton and Lange: Norwalk, CT, 1991. pp. 1474–7. 2. Gould GM, Pyle WL. Medical curiosities. Adapted from Anomalies and condition, and much has been learned about the ‘‘natural Curiosities of Medicine, WB Saunders, 1896. Lancet, 1852;476:327. history’’ of fetal diaphragmatic hernia that has allowed recent 3. Gould GM, Pyle WL. Medical curiosities. Adapted from Anomalies and identification of accurate fetal prognostic indicators of neonatal Curiosities of Medicine, WB Saunders, 1896. Zentralbl Gynakol. May 19, 22 outcome. Fetal ultrasonography has been used to diagnose CDH, 1894:261. 23 even bilateral CDH. Advances in magnetic resonance imaging 4. Gould GM, Pyle WL. Medical curiosities. Adapted from Anomalies and (MRI) have provided high-quality images of the intrathoracic Curiosities of Medicine, WB Saunders, 1896. Lancet, 1858:396.

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5. Bodwitch HI. A treatise on diaphragmatic hernia. Buffalo Med J evaluation with MR lung volumetry — preliminary experience. Radiology 1853;9(11):65–95. 2001;220(1):63–7. 6. Gould GM, Pyle WL. Medical curiosities. Adapted from Anomalies and 27. Hashim E, Laberge JM, Chen MF, Quillen EW Jr. Reversible tracheal Curiosities of Medicine, WB Saunders, 1896. Lancet, 1861:391. obstruction in the fetal sheep: effects on tracheal fluid pressure and lung 7. O’Dwyer J. Operation for relief of congenital diaphragmatic hernia. Arch growth. J Pediatr Surg 1995;30:1172–7. Pediatr December 1889;9:130–2. 28. Hedrick MH, Estes JM, Sullivan KM, et al. Plug the lung until it grows 8. Walker EW. Diaphragmatic hernia. Int J Surg. JAMA, J Am Med Assoc. (PLUG): a new method to treat congenital diaphragmatic hernia in utero. September 22, 1900;35:778. (Abstract). J Pediatr Surg 1994;29:612–7. 9. Livingston. Diseases of the newly born. 2nd ed. In: Emmett Holt L, editor. The 29. 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