title: Severe supravalvar aortic stenosis in familial homozygous hypercholesterolemia.
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.
authors.affiliation: Lillie Frank Abercrombie Section of Cardiology, Texas Children's Hospital, Baylor College of Medicine, Mail Code 19345C, Houston, TX 77030, USA. garora@bcm.tmc.edu
authors.forename: G
authors.initials: G
authors.lastname: Arora
authors.forename: C D
authors.initials: CD
authors.lastname: Fraser
authors.forename: D L
authors.initials: DL
authors.lastname: Kearney
authors.forename: J A
authors.initials: JA
authors.lastname: Vincent
mesh_terms: D021921:Aortic Stenosis, Supravalvular / Q000209:etiology* / Q000473:pathology / Q000601:surgery; D050197:Atherosclerosis / Q000209:etiology* / Q000473:pathology / Q000601:surgery; D002675:Child, Preschool; D018450:Disease Progression; D004452:Echocardiography; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000150:complications* / Q000628:therapy; D008297:Male