Supravalvular Aortic Stenosis and Coronary Ostial Stenosis in Familial Hypercholesterolemia: Case Report

Supravalvular A01·tic Stenosis and Coronary Ostial Stenosis in Familial Hyperclıolesterolemia: Case Report Fanıilial hyperclıolesterolemia is an inherited nıetabolic elisorder caused by a low-density-lipopotein (LDL) receptor abnornıality that results in severe hypercholesterolenıia which /eads to the accun/1/lation of LDL-derived cholestero/ in s kin, tendans and arterial wal/s. In fanıilia/ lıypercho/estero/emia, especially the atheromatous p/aquing on the aortic root is significant and results in supravalvular aortic stenosis and ostial stenosis of the coronary artery. These conıplications are fatal and occur in youth. Tlıey can be prevented by early diagnosis and accurate lipid-lowering treatment. W e present a patie111 with familial hypercholesterolemia at the age of twenty one. He had xanthelasmas, arcus limbus and tendinous xanthomas. In addition to tlıese lesions he also had valvular, supravalvular aortic stenosis and ostia/ coronary artery stenosis . Besides cholesterol towering treatment, he underwent coronary artery bypass surgery and had an aortic valve replacement.