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Siblings with supravalvar aortic stenosis
  1. S Deshpande,
  2. S Khadse,
  3. V Bhatia

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Two brothers were referred to a tertiary care hospital for investigation of cardiac murmurs. The elder brother was 8 years old, and was asymptomatic. Examination revealed normal blood pressure in both upper limbs and a normal sized heart with an ejection systolic murmur best heard in the right second space radiating to the right carotid artery. The ECG was essentially normal but echocardiography revealed a gradient of 70 mm Hg at the supravalvar level. Diagnostic angiography revealed discrete supravalvar stenosis with a gradient of 45 mm Hg (panels A and B) Coronary and pulmonary arteries were normal. The younger brother was 6 years old and complained of angina on exertional activity. His clinical examination revealed normal blood pressure in both the upper extremities and a sustained left ventricular apex. There was an ejection systolic murmur best heard in the right second space radiating to the right carotid artery. His ECG revealed left ventricular hypertrophy and echocardiography revealed a diffuse narrowing of the ascending aorta and a gradient of 200 mm Hg across it. Diffusely dilated coronary arteries were seen. Diagnostic angiography revealed diffuse narrowing of the supravalvar aorta, and ostial stenosis of the left common carotid artery with diffuse dilatation of the left coronary system (panels C and D) Pulmonary artery angiography did not reveal pulmonary artery stenosis.

Both brothers had facial dysmorphism but they did not fit into any syndrome. There was no family history and the eldest brother of the two boys was normal upon cardiac investigation. Their serum calcium concentrations were normal. Both brothers are awaiting surgical repair.

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