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권계숙 ( Kwon Gye Sug ),박태병 ( Park Tae Byeong ),조철호 ( Jo Cheol Ho ),고광근 ( Go Gwang Geun ),조상균 ( Jo Sang Gyun ),김삼수 ( Kim Sam Su ),박찬섭 ( Park Chan Seob ),서창해 ( Seo Chang Hae ) 대한내과학회 1993 대한내과학회지 Vol.44 No.5
Supravalvular aortic stenosis is a dongenital narrowing of the ascending aorta. The stenotic lesion may be localized or diffuse, originating at the superior margin of the sinuses of Valsalva just above the level of the coronary arteries. This disease is suggested to have familial tendency heredited by an autosomal dominant type of transmission. A 17-years-old male with intermittent exertional chest pain, whose elder sister being a patient with supravalvular aortic stenosis, was admitted for cardiologic evaluation. Diagnosis of supravalvualr aortic stenosis was made by echocardiography, angiocardiography and magnetic resonance imaging of heart. We reported a case of familial supravalvualr aortic stenosis with a review of literature.