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The Pathology of Congenital Heart Disease Margaret Grimes, MD

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The Pathology of Congenital Heart Disease Margaret Grimes, MD The Pathology of Congenital Heart Disease Margaret Grimes, MD OBJECTIVE Know the major morphologic abnormalities comprising the most frequently encountered forms of congenital heart disease. I. Introduction: By definition, congenital heart disease is present at birth. Congenital abnormalities of the heart and great vessels affect about 0.8% of live births. Most represent faulty embryogenesis during gestational weeks 3-8. Although some forms result in intrauterine demise, probably most are live births. Some forms present clinically immediately after birth; others may not present until adulthood. Congenital heart disease may consist of a single morphologic abnormality (isolated), or multiple abnormalities (complex). The etiology is often obscure, but both genetic and environmental associations have been observed. Approximately 5% of congenital heart disease cases overall are associated with chromosomal abnormalities. For instance, congenital heart disease is a feature of trisomies 21, 18 and 13, and the incidence of congenital heart disease is increased in children of parents with congenital heart disease. There is an increased incidence of cardiac abnormalities associated with Rubella, thalidomide, alcohol and certain other exposures. Probably the greatest potential for developmental abnormality occurs upon exposure to environmental insults during the first six weeks of gestation. Morphologic abnormalities in congenital heart disease are sometimes broadly classified as either shunts or obstructive lesions. Shunts consist of abnormal communications between chambers of the heart and/or great vessels. Obstructive lesions include stenosis or atresia of valves, or abnormal narrowing of a vessel, such as coarctation of the aorta. Most common forms: Ventricular septal defect Atrial septal defect Tetralogy of Fallot Pulmonary stenosis Patent ductus arteriosus Coarctation of aorta Aortic stenosis Transposition of great vessels II. Clinically, congenital heart disease may also be classified as cyanotic or acyanotic. In cyanotic disease, the systemic blood is poorly oxygenated, either because of a right-to- left shunt across a septal defect or through a patent ductus arteriosus; or because there is inadequate blood flow through the lungs, as in pulmonic stenosis. In acyanotic disease, there is adequate or increased flow through the lungs, as in a left-to-right shunt. The pathophysiology associated with congenital heart disease will be discussed by other lecturers. This lecture will serve as an introduction to the morphology of the major types of congenital heart disease. III. Ventricular Septal Defect (VSD) This is a common form of congenital heart abnormality. It may occur as an isolated lesion (~ 1/3 of cases) or in combination with other abnormalities (as part of a complex). Most VSD's (90%) involve the membranous portion of the interventricular septum; they may also occur in the muscular septum. These defects can range in size from probe- patent to several centimeters. Occasionally multiple defects are present. The clinical signs and symptoms depend on the size of the lesion. Figure 1 - Small ventricular defect Small defects involving the muscular septum are referred to as Roger's disease. These may close spontaneously, or be well-tolerated clinically since the size of the shunt is small. A small VSD is sometimes complicated by the development of infective endocarditis. This is because the jet stream of blood through the small shunt can damage the endothelium on the down-stream side of flow, leading to formation of small fibrin thrombi on the endocardial surface- a good site for colonization by bacteria in transient bacteremia. Large defects usually remain patent and may result in significant left-to-right shunts, right ventricular hypertrophy and pulmonary hypertension. Infants may present at birth with a murmur and cardiac failure. Over time, this shunt may reverse in direction (because of increased pulmonary vascular resistance), leading to cyanosis. A reversal of flow across a shunt (left-to-right reversing to right-to-left) is referred to as Eisenmenger's syndrome. Because large VSD's often involve the membranous septum, they may also be associated with aortic valvular insufficiency. III. Atrial Septal Defect (ASD) There are three major types of ASD, classified by location: 1. Secundum -90% of all ASDs -small to large in size -single; multiple or fenestrated -usually occurs as an isolated defect 2. Primum -about 5% of all ASDs -occurs close to atrioventricular valves -may be associated with cleft anterior mitral leaflet 3. Sinus venosus -about 5% of all ASDs -occurs near entrance of superior vena cava into right atrium -may be associated with anomalies of pulmonary veins Symptoms depend on the size of the defect; large lesions may not present until adulthood. Left-to-right shunting leads to an increase in pulmonary blood flow. Some patients may develop increased pulmonary vascular resistance and reversal of shunt. Paradoxic embolism may occur (embolization from the venous circulation to the systemic circulation across the septal defect). Figure 2 - Atrial Septal Defect IV. Patent Ductus Arteriosus (PDA) This is a persistent communication between the aorta and pulmonary artery. Normally the ductus closes functionally within the first 1-2 days of life (due to increased oxygen levels and decreasing maternal prostaglandin levels). The ductus may remain patent in premature infants with respiratory distress. PDA occurring in a full term infant may result from a structural abnormality. The length and diameter of the patent ductus is variable. 90% occurs as isolated lesions. PDA is associated with a left-to-right shunt and therefore is initially acyanotic. The shunt typically produces a harsh murmur. The development of increased pulmonary vascular resistance may lead to reversal of flow and cyanosis. Figure 3 - Probe in patent ductus arteriosus V. Tetralogy of Fallot This is an example of a complex form of congenital heart disease. It is characterized by: 1. ventricular septal defect; 2. obstruction of right ventricular outflow tract ("subpulmonic stenosis"); 3. overriding aorta; 4. right ventricular hypertrophy. This complex abnormality accounts for 5% of cases of congenital heart disease and is the most common form of cyanotic congenital heart disease. The direction of blood flow, and hence the severity of clinical symptoms, depends on the severity of the obstruction to right ventricular outflow. This obstruction morphologically may be due to a narrowing of the infundibulum (subpulmonic) or stenosis or atresia of the pulmonic valve. VI. Aortic Stenosis (AS) This abnormality usually occurs as an isolated lesion. The stenosis may be due to abnormal morphology of the valve cusps, or there may be abnormal thickening of the ascending aorta (supravalvular stenosis) or of the ventricular wall just beneath the cusps (subvalvular stenosis). A common form is the presence of 2 cusps instead of 3 (bicuspid valve). Bicuspid valves are prone to the development of degenerative calcification. Rarely, there may be only a single cusp (unicuspid valve). Congenital AS may be associated with hypoplasia of the left ventricle and ascending aorta. The endocardium of the left ventricle is often lined by a thick layer of fibroelastic tissue (endocardial fibroelastosis) and the ductus arteriosus is patent. These changes are referred to as hypoplastic left heart syndrome; a condition that is frequently fatal in the first week of life. VII. Pulmonary Stenosis (PS) This may occur as an isolated lesion, or in combination with other abnormalities (such as in Tetralogy of Fallot). As in aortic stenosis, there may be an abnormal number of cusps, or there may be subpulmonic stenosis. In some cases the valve is completely atretic. VIII. Coarctation of the Aorta This abnormal narrowing or constriction of the aorta occurs in a spectrum of severity. Two major forms include: 1. preductal or infantile type In the preductal form there is a segmental hypoplasia of the aorta proximal to the ductus arteriosus. The ductus is usually patent, and patients present with symptoms early in life. These infants may be noted to have cyanosis of the lower trunk and extremities but not of the head and upper body. This is because venous blood passes from the pulmonary trunk through the patent ductus into the aorta. Oxygenated blood from the left heart supplies the head and upper extremities via the vessels proximal to the obstruction (innominate, carotid and subclavian arteries). Figure 4 - Coarctation of the Aorta 2. postductal or adult type In this form, there is a ridge or in-folding of the aortic wall opposite the (closed) ductus. Patients may be asymptomatic until adult life depending on the severity of the lesion. Clinically there is a difference between the blood pressure measured at the right arm compared with pressure in the legs. There is usually hypertension in the upper extremities, and lower pressures with weak pulses in the lower extremities. Patients may complain of symptoms related to arterial insufficiency of the lower extremities. There may be prominent development of collateral arterial supply. IX. Transposition of the Great Vessels This anomaly involves abnormal development of the aorta and pulmonary arteries such that the aorta arises from the right ventricle and the pulmonary artery arises from the left ventricle. There are a number of variations that may occur, such as so-called corrected transposition, in which the ventricles are also "reversed". Complete transposition results in completely separate systemic and pulmonary circulations and is incompatible with life unless there is a septal defect and/or patent ductus. .
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