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  • Title: [Congenital tubular supravalvular aortic stenosis with massive coronary artery dilatation in a 35-year-old man].
    Author: Bischoff D, Fassbender D, Piper C, Hort W, Körfer R, Horstkotte D.
    Journal: Z Kardiol; 2000 Mar; 89(3):199-205. PubMed ID: 10798276.
    Abstract:
    Supravalvular aortic stenosis is a rare cause of left ventricular outflow obstruction in adults. It occurs as an isolated defect sporadically or on a hereditary basis with an autosomal dominant trait without further phenotypical anomalies, or as part of the Williams syndrome with mental retardation and multiple other anomalies. This lesion was proved to result from a defect of the elastin coding gene. Supravalvular aortic stenosis is frequently associated with cardiovascular defects, particularly of the peripheral pulmonary arteries, thoracic aorta, carotid, subclavian, and coronary arteries and the aortic valve. The coronary arteries are subject to an increased perfusion pressure leading to dilatation, tortuosity and accelerated arteriosclerosis. We give details of a 35-year-old patient in whom a previously asymptomatic supravalvular aortic stenosis is associated with an excessive dilatation of the right coronary artery and the left anterior descending coronary artery as well as an ostium stenosis of the left common carotid artery. The patient did not present any phenotypical anomalies of the Williams syndrome.
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