Congenital aortic valve stenosis

Congenital aortic valve stenosis (also known as congenital aortic stenosis or congenital aortic valve obstruction) is a heart defect present at birth in which the aortic valve — the valve that controls blood flow from the left ventricle of the heart into the aorta and onward to the rest of the body — is abnormally narrowed. The valve may be bicuspid (having two leaflets instead of the normal three), unicuspid, or have fused or thickened leaflets, all of which restrict the valve opening and impede blood flow. This obstruction forces the left ventricle to work harder to pump blood, which over time can lead to left ventricular hypertrophy (thickening of the heart muscle), heart failure, and in severe cases, sudden cardiac death. The severity of congenital aortic valve stenosis varies widely. In critical cases presenting in the neonatal period, infants may develop severe heart failure, poor feeding, rapid breathing, and cyanosis (bluish discoloration of the skin), requiring urgent intervention. In milder forms, the condition may remain asymptomatic throughout childhood and into adulthood, with symptoms such as exertional dyspnea (shortness of breath during physical activity), chest pain, fatigue, syncope (fainting), and exercise intolerance developing gradually as the stenosis progresses. A characteristic heart murmur is typically detected on physical examination. Treatment depends on the severity of the stenosis. Mild cases may be managed with regular monitoring and activity modifications. For significant stenosis, interventional procedures such as balloon aortic valvuloplasty (a catheter-based procedure to widen the valve) are often the first-line treatment, particularly in neonates and children. Surgical options include surgical valvotomy (opening the fused valve leaflets) or aortic valve replacement, including the Ross procedure (replacing the aortic valve with the patient's own pulmonary valve). Many patients require multiple interventions over their lifetime as the valve may re-stenose or develop regurgitation. Long-term follow-up with a cardiologist is essential.

Common questions about Congenital aortic valve stenosis