Clinical features

There may be a history of the features which comprise the supravalvular aortic stenosis syndrome - cf. associated conditions.

Cardiac symptoms are rare. The coronary arteries are usually well perfused and so angina occurs late.

Syncope occurs in older patients, usually in association with atrial rhythm disturbance.

Fits in adolescence are linked to severe systemic hypertension or carotid or innominate artery stenosis.

Gross left ventricular hypertrophy may result in mitral valve incompetence and symptoms of dyspnoea.

Infective endocarditis may occur at the abnormal aortic valve.

Supravalvular aortic stenosis may be recognised by:

• signs of aortic stenosis - carotid systolic thrill, left ventricular hypertrophy
• absence of an ejection click in young patients
• a murmur, maximal at the right upper sternal margin
• a loud aortic second sound
• systolic - not diastolic - hypertension is common