Severe Supravalvar Aortic Stenosis in Familial Homozygous Hypercholesterolemia |
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| Authors: | G. Arora C.D. Fraser D.L. Kearney J.A. Vincent |
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| Affiliation: | (1) Lillie Frank Abercrombie Section of Cardiology, Texas Children’s Hospital, Baylor College of Medicine, 6621 Fannin Street, Mail Code 19345C, Houston, TX 77030, USA;(2) Division of Congenital Heart Surgery, Texas Children’s Hospital, Baylor College of Medicine, 6621 Fannin Street, Houston, TX 77030, USA;(3) Department of Pathology, Texas Children’s Hospital, Baylor College of Medicine, 6621 Fannin Street, Houston, TX 77030, USA;(4) Arizona Pediatric Cardiology Consultants, 1920 East Cambridge Avenue, Suite 301, Phoenix, AZ 85006, USA |
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| Abstract: | Familial homozygous hypercholesterolemia is a rare disease with diverse clinical presentations. Patients often present with cutaneous xanthomas, particularly in the Achilles’ tendon. They may have significant cardiovascular involvement, including premature atherosclerotic coronary artery disease and valvar and supravalvar aortic stenosis. Standard therapy includes diet modulation, pharmacotherapy, and lipid apheresis. Rarely, patients require surgical intervention for coronary artery bypass grafting and/or relief of the aortic stenosis. We present the case of a patient with severe progressive supravalvar aortic stenosis that ultimately required surgical resection despite aggressive medical therapy. |
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| Keywords: | Hypercholesterolemia Aortic stenosis Cardiac surgery Familial hyperlipidemia Congenital dyslipidemia |
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