117 CONGENITAL HEART DISEASE IN THE ADULT
Harrison’s Manual of Medicine
CONGENITAL HEART DISEASE IN THE ADULT
Atrial Septal Defect (ASD)
Ventricular Septal Defect (VSD)
Patent Ductus Arteriosus (PDA)
Progression to Pulmonary Hypertension (PHT)
Pulmonic Stenosis (PS)
Coarctation of the Aorta
ATRIAL SEPTAL DEFECT (ASD)
HISTORY Usually asymptomatic until third or fourth decades, when exertional dyspnea, fatigue, and palpitations may develop. Symptoms often associated with pulmonary hypertension (see below).
PHYSICAL EXAMINATION Parasternal RV lift, wide fixed splitting of S2, systolic flow murmur along sternal border, diastolic flow rumble across tricuspid valve, prominent jugular venous v wave.
ECG Incomplete RBBB. LAD common with ostium primum (lower septal) defect.
CXR Increased pulmonary vascular markings, prominence of RV and main pulmonary artery (LA enlargement not usually present).
ECHOCARDIOGRAM RA and RV enlargement; Doppler shows abnormal turbulent transatrial flow. Echo contrast (agitated saline) injection into peripheral vein may visualize transatrial shunt. Transesophageal echo is indicated if transthoracic echo is ambiguous.
In the absence of contraindications an ASD with pulmonary-to-systemic flow ratio (PF:SF) >1.5:1.0 should be surgically repaired. Surgery is contraindicated with significant pulmonary hypertension and PF:SF <1.2:1.0. Medical management includes antiarrhythmic therapy for associated atrial fibrillation or supraventricular tachycardia (Chap. 115) and standard therapy for symptoms of CHF (Chap. 116).
VENTRICULAR SEPTAL DEFECT (VSD)
Congenital VSDs may close spontaneously during childhood. Symptoms relate to size of the defect and pulmonary vascular resistance.
HISTORY CHF in infancy. Adults may be asymptomatic or develop fatigue and reduced exercise tolerance.
PHYSICAL EXAMINATION Systolic thrill and holosystolic murmur at lower left sternal border, loud P2, S3; flow murmur across mitral valve.
ECG Normal with small defects. Large shunts result in LA and LV enlargement.
CXR Enlargement of main pulmonary artery, LA, and LV, with increased pulmonary vascular markings.
ECHOCARDIOGRAM LA and LV enlargement; defect may be visualized. Color Doppler usually demonstrates flow across the defect.
Fatigue and mild dyspnea are treated with diuretics and afterload reduction (Chap. 116). Surgical closure is indicated if PF:SF > 1.5:1. Antibiotic prophylaxis for endocarditis is important.
PATENT DUCTUS ARTERIOSUS (PDA)
Abnormal communication between the descending aorta and pulmonary artery; associated with birth at high altitudes and maternal rubella.
HISTORY Asymptomatic or dyspnea on exertion and fatigue.
PHYSICAL EXAMINATION Hyperactive LV impulse; loud systolic- diastolic “machinery” murmur at upper left sternal border. If pulmonary hypertension develops, diastolic component of the murmur may disappear.
ECG LV hypertrophy is common; RV hypertrophy with pulmonary hypertension.
CXR Increased pulmonary vascular markings; enlarged main pulmonary artery, ascending aorta, LV; occasional calcification of ductus.
ECHOCARDIOGRAPHY Hyperdynamic, enlarged LV; the PDA can often be visualized on two-dimensional echo; Doppler demonstrates abnormal flow contained within it.
In absence of pulmonary hypertension, PDA should be ligated to prevent infective endocarditis, LV dysfunction, and pulmonary hypertension. Transcatheter closure may be possible in selected pts.
PROGRESSION TO PULMONARY HYPERTENSION (PHT)
Pts with significant, uncorrected ASD, VSD, or PDA may develop progressive, irreversible PHT with shunting of desaturated blood into the arterial circulation (right-to-left shunting). Fatigue, light-headedness, and chest pain due to RV ischemia are common, accompanied by cyanosis, clubbing of digits, loud P2, murmur of pulmonary valve regurgitation, and signs of RV failure. ECG and echocardiogram show RV hypertrophy. Surgical correction of congenital defects contraindicated with severe PHT and right-to-left shunting.
PULMONIC STENOSIS (PS)
A transpulmonary valve gradient <50 mmHg rarely causes symptoms, and progression tends not to occur. Higher gradients result in dyspnea, fatigue, light- headedness, chest pain (RV ischemia).
PHYSICAL EXAMINATION Shows jugular venous distention with prominent a wave, RV parasternal impulse, wide splitting of S2 with soft P2, ejection click followed by “diamond-shaped” systolic murmur at upper left sternal border, S4.
ECG RA and RV enlargement in advanced PS.
CXR Often shows poststenotic dilatation of the pulmonary artery and RV enlargement.
ECHOCARDIOGRAPHY RV hypertrophy and “doming” of the pulmonic valve. Doppler accurately measures transvalvular gradient.
Prophylaxis for infective endocarditis is mandatory. Moderate or severe stenosis (gradient >50 mmHg) requires surgical (or balloon) valvuloplasty.
COARCTATION OF THE AORTA
Aortic constriction just distal to the origin of the left subclavian artery is a surgically correctable form of hypertension (Chap. 124). Usually asymptomatic, but it may cause headache, fatigue, or claudication of lower extremities.
PHYSICAL EXAMINATION Hypertension in upper extremities; delayed femoral pulses with decreased pressure in lower extremities. Pulsatile collateral arteries can be palpated in the intercostal spaces. Systolic (and sometimes diastolic) murmur is best heard over the mid-upper back.
ECG LV hypertrophy.
CXR Notching of the ribs due to collateral arteries; “figure 3” appearance of distal aortic arch.
Surgical correction, although hypertension may persist. Antibiotic prophylaxis against endocarditis is required even after correction. Recoarctation after surgical repair may be amenable to percutaneous balloon dilatation.
For a more detailed discussion, see Friedman WF, Child JS: Congenital Heart Disease in the Adult, Chap. 234, p. 1331, HPIM-15.