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 fatigue and dyspnea on exertion. Physical Examination Hyperactive LV impulse; loud continuous “machinery” murmur at upper left sternal border. If pulmonary hypertension develops, diastolic component of the murmur may disappear.

VENTRICULAR SEPTAL DEFECT (VSD)

Congenital VSDs may close spontaneously during childhood. Symptoms relate to size of the defect and pulmonary vascular resistance.

History 

CHF may develop 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; diastolic flow murmur across mitral valve.

ATRIAL SEPTAL DEFECT (ASD)

Most common is ostium secundum ASD, located at mid interatrial septum. Sinus venosus type ASD involves the high atrial septum and may be associated with anomalous pulmonary venous drainage to the right heart. Ostium primum ASDs (e.g., typical of Down syndrome) appear at lower atrial septum, adjacent to atrioventricular (AV) valves.

History 

Usually asymptomatic until third or fourth decades, when exertional dyspnea, fatigue, and palpitations may occur. Onset of symptoms may be associated with development of pulmonary hypertension (see below).

PULMONIC STENOSIS (PS)

A transpulmonary valve gradient < 30 mmHg indicates mild PS, 30–50 mmHg is moderate PS, and >50 mmHg is considered severe PS. Mild to moderate PS rarely causes symptoms, and progression tends not to occur. Pts with higher gradients may manifest dyspnea, fatigue, light-headedness, chest pain (RV ischemia).

COARCTATION OF THE AORTA

Aortic constriction just distal to the origin of the left subclavian artery is a surgically correctable form of hypertension . Usually asymptomatic, but may cause headache, fatigue, or claudication of lower extremities. Often accompanied by bicuspid aortic valve.

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 also diastolic) murmur is best heard over the mid-upper back at left interscapular space.

MITRAL STENOSIS (MS)

Etiology 

Most commonly rheumatic, although history of acute rheumatic fever is now uncommon; congenital MS is rare cause, observed primarily in infants.
History Symptoms most commonly begin in the fourth decade, but MS often causes severe disability at earlier ages in developing nations. Principal symptoms are dyspnea and pulmonary edema precipitated by exertion, excitement, fever, anemia, paroxysmal tachycardia, pregnancy, sexual intercourse, etc.

MITRAL REGURGITATION (MR)

Etiology 

Mitral valve prolapse (see below), rheumatic heart disease, ischemic heart disease with papillary muscle dysfunction, LV dilatation of any cause, mitral annular calcification, hypertrophic cardiomyopathy, infective endocarditis, congenital.