Congenital heart disease abnormalities of the heart or great vessels that are present at birth Malformations causing a left-to-right

to-right shunt Malformations causing a right-to-left shunt (cyanotic congenital heart diseases) Malformations causing obstruction Shunt: abnormal communication between chambers or blood vessels shunts permit the flow of blood from the left heart to the right heart (or vice versa) Right-to-left shunt: dusky blueness of the skin (cyanosis); pulmonary circulation is bypassed and poorly oxygenated blood enters the systemic circulation Left-to-right shunts: increase pulmonary blood flow and are not associated (at least initially) with cyanosis. However, they expose the low-pressure, low-resistance pulmonary circulation to increased pressure and volume right ventricular hypertrophy and-eventually-right-sided failure. Anomalies obstruct vascular flow by narrowing the chambers, valves, or major blood vessels obstructive congenital heart disease A complete obstruction is called an atresia. In some disorders (e.g, tetralogy of Fallot), an obstruction (pulmonary stenosis) is associated with a shunt (right-to-left through a ventricular septal defect [VSD])

Left-to-Right Shunts Characteristic Pathophysiology

Clinical features

Include atrial and ventricular septal defects, and patent ductus arteriosus Atrial septal defects increased pulmonary blood volumes ventricular septal defects and patent ductus arteriosus increased pulmonary blood flow and pressure prolonged left-to-right shunting pulmonary hypertension sufficient to yield right-sided pressures that exceed those on the left reversal of blood flow through the shunt of unoxygenated blood to the systemic circulation Eisenmenger syndrome

Congenital left-to-right shunts A: Atrial septal defect (ASD) B: Ventricular septal defect (VSD). With VSD the shunt is left to right, and the pressures are the same in both ventricles. Pressure hypertrophy of the right ventricle and volume hypertrophy of the left ventricle are generally present. C: Patent ductus arteriosus (PDA) Atrial Septal Defects Embryology

Morphology

Clinical Features

Atrial septum begins as an ingrowth of the septum primum from the dorsal wall of the common atrial chamber toward the developing endocardial cushion; a gap, termed the ostium primum, initially separates the two Continued growth and fusion of the septum with the endocardial cushion ultimately obliterates the ostium primum second opening, ostium secundum, now appears in the central area of the primary septum (allowing continued flow of oxygenated blood from the right to left atria, essential for fetal life) As the ostium secundum enlarges, the septum secundum makes its appearance adjacent to the septum primum. This septum secundum proliferates to form a crescent-shaped structure overlapping a space termed the foramen ovale The foramen ovale is closed on its left side by a flap of tissue derived from the primary septum; this flap acts as a one-way valve that allows right-to-left blood flow during intrauterine life At the time of birth, falling pulmonary vascular resistance and rising systemic arterial pressure causes left atrial pressures to exceed those in the right atrium; the result is a functional closure of the foramen ovale the foramen ovale is permanently sealed by fusion of the primary and secondary septa Ostium secundum ASDs: smooth-walled defects near the foramen ovale, usually without other associated cardiac abnormalities Left-to-right shunt hemodynamically significant lesions + right atrial and ventricular dilation + right ventricular hypertrophy + dilation of the pulmonary artery; due to increased volume load on the right side of the heart Ostium primum ASDs occur at the lowest part of the atrial septum and can extend to the mitral and tricuspid valves, reflecting the close relationship between development of the septum primum and endocardial cushion ASDs (which are less likely to spontaneously close) are the most common defects to be first diagnosed in adults Initially cause left-to-right shunts, as a result of the lower pressures in the pulmonary circulation and right side of the heart Pulmonary vascular resistance can increase pulmonary hypertension

Ventricular Septal Defects Characteristic Incomplete closure of the ventricular septum allows left-to-right shunting Most VSDs close spontaneously in childhood, so that the overall incidence in adults is lower than that of asds Embryology Ventricular septum is normally formed by the fusion of an intraventricular muscular ridge that grows upward from the apex of the heart with a thinner membranous partition that grows downward from the endocardial cushion Morphology Size and location of VSDs are variable, ranging from minute defects in the muscular or membranous portions of the septum to large defects involving virtually the entire septum In defects associated with a significant left-to-right shunt, the right ventricle is hypertrophied and often dilated The diameter of the pulmonary artery is increased because of the increased volume ejected by the right ventricle. Vascular changes typical of pulmonary hypertension are common Clinical Small VSDs asymptomatic, the muscular portion of the septum Features may close spontaneously during infancy or childhood Larger defects cause a severe left-to-right shunt, often complicated by pulmonary hypertension and CHF Progressive pulmonary hypertension, with resultant reversal of the shunt and cyanosis, occurs earlier and more frequently in patients with VSDs than in those with ASDs; hence, early surgical correction is indicated for such lesions. Small- or medium-sized defects that produce jet lesions in the right ventricle are also prone to superimposed infective endocarditis

Patent Ductus Arteriosus Morphology During intrauterine life, the ductus arteriosus permits blood flow from the pulmonary artery to the aorta, thereby bypassing the unoxygenated lungs. Shortly after birth, the ductus constricts; this occurs in response to increased arterial oxygenation, decreased pulmonary vascular resistance, and declining local levels of prostaglandin E2 Complete, structural obliteration occurs within the first few months of extrauterine life to form the ligamentum arteriosum Morphology Ductus arteriosus arises from the left pulmonary artery and joins the aorta just distal to the origin of the left subclavian artery. Some of the oxygenated blood flowing out from the left ventricle is shunted back to the lungs Because of the resultant volume overload, the proximal pulmonary arteries, left atrium, and ventricle can become dilated With the development of pulmonary hypertension, atherosclerosis of the main pulmonary arteries and proliferative changes in more distal pulmonary vessels are seen, followed by right heart hypertrophy and dilation Clinical High-pressure left-to-right shunts, audible as harsh "machinery-like" Features murmurs Larger bore defects can eventually lead to the Eisenmenger syndrome with cyanosis and CHF

Right-to-Left Shunts Clinical Features

distinguished by cyanosis at or near the time of birth poorly oxygenated blood from the right side of the heart is introduced directly into the arterial circulation long-standing cyanosis include clubbing of the fingertips (hypertrophic osteoarthropathy) and polycythemia permit venous emboli to bypass the lungs and directly enter the systemic circulation (paradoxical embolism)

Right-to-left shunts (cyanotic congenital heart disease) A: Tetralogy of Fallot. Arrow indicates the direction of the blood flow. B: Transposition of the great vessels with and without VSD. (Ao, aorta; LA, left atrium; LV, left ventricle; PT, pulmonary trunk; RA, right atrium; RV, right ventricle.)

Tetralogy of Fallot Clinical Features

Characteristic

Morphology

Most common cause of cyanotic congenital heart disease Right-to-left shunting, decreased pulmonary blood flow, and increased aortic volumes Extent of shunting (and the clinical severity) is determined by the amount of right ventricular outflow obstruction If the pulmonic obstruction is mild, the condition resembles an isolated VSD, because the high left-sided pressures on the left side cause a left-to-right shunt with no cyanosis. More commonly, marked stenosis causes significant right-to-left shunting and consequent cyanosis early in life. As patients with tetralogy grow, the pulmonic orifice does not enlarge, despite an overall increase in the size of the heart. Hence, the degree of stenosis typically worsens with time resulting in increasing cyanosis Right-to-left shunting also increases the risk for infective endocarditis, systemic emboli, and brain abscesses 4 features of the tetralogy: (1) VSD, (2) obstruction to the right ventricular outflow tract (subpulmonic stenosis), (3) an aorta that overrides the VSD, (4) right ventricular hypertrophy Heart is large and "boot shaped" in tetralogy of Fallot as a result of right ventricular hypertrophy The proximal aorta is typically larger than normal, with a diminished pulmonary trunk The left-sided cardiac chambers are normal sized, while the right ventricular wall is markedly thickened and may even exceed that of the left. The VSD lies in the vicinity of the membranous portion of the interventricular septum, and the aortic valve lies immediately over the VSD. The pulmonary outflow tract is narrowed

Aortic Coarctation Characteristic Clinical Features

Coarctation (narrowing, or constriction) of the aorta Obstructive congenital heart disease Preductal coarctation of the aorta with a PDA: May cause signs and symptoms immediately after birth The delivery of poorly oxygenated blood through the ductus arteriosus produces cyanosis localized to the lower half of the body Femoral pulses are almost always weaker than those of the upper extremeties Postductal coarctation of the aorta without a PDA: Usually asymptomatic Upper extremity hypertension, due to poor perfusion of the kidneys, but weak pulses and a lower blood pressure in the lower extremities Claudication and coldness of the lower extremeties result from arterial insufficiency Preductal ("infantile") coarctation: Tubular narrowing of the aortic segment between the left subclavian artery and the ductus arteriosus Ductus arteriosus is usually patent and is the main source of blood delivered to the distal aorta Because the right side of the heart must perfuse the body distal to the narrowing, the right ventricle is typically hypertrophied and dilated; the pulmonary trunk is also dilated to accommodate the increased blood flow Postductal ("adult") coarctation: The aorta is sharply constricted by a ridge of tissue at or just distal to the ligamentum arteriosum The constricted segment is made up of smooth muscle and elastic fibers that are continuous with the aortic media and are lined by a thickened layer of intima. The ductus arteriosus is closed Proximal to the coarct, the aortic arch and its branch vessels are dilated and, in older patients, often atherosclerotic The left ventricle is hypertrophic

Morphology