title: Valvular and supravalvular aortic stenosis in heterozygous familial hypercholesterolemia, a case report.
abstract: Familial hypercholesterolemia (FH) is an autosomal dominant disorder characterized by a high level of LDL-cholesterol and frequent coronary atherosclerosis. We studied a 64 year old woman with heterozygous (hetero) FH, who showed symptoms of chest pain and dyspnea with no other coronary risk factors than post-menopause and hypercholesterolemia. Although her coronary symptoms didn't reveal significant stenosis on coronary angiography, she had severe aortic valvular and supravalvular stenosis at the ascending aorta, which qualified her for aortic valve replacement. Moreover, a coronary flow study revealed functional ischemia with a reduction of the coronary flow reserve. We report a case of valvular and supravalvular aortic stenosis corrected by aortic valve replacement, a rare complication of hetero FH.
authors.affiliation: Second Department of Internal Medicine, University of Occupational and Environmental Health, School of Medicine, Iseigaoka 1-1, Yahatanishiku, Kitakyushu, Fukuoka 807-8555, Japan.
authors.forename: Kiyoshi
authors.initials: K
authors.lastname: Ozumi
authors.forename: Hiromi
authors.initials: H
authors.lastname: Tasaki
authors.forename: Kazuhiko
authors.initials: K
authors.lastname: Yamashita
authors.forename: Seiya
authors.initials: S
authors.lastname: Tanaka
authors.forename: Takakazu
authors.initials: T
authors.lastname: Sasaguri
authors.forename: Yasuyuki
authors.initials: Y
authors.lastname: Sasaguri
authors.forename: Yasuhide
authors.initials: Y
authors.lastname: Nakashima
mesh_terms: D021921:Aortic Stenosis, Supravalvular / Q000175:diagnosis / Q000209:etiology* / Q000601:surgery; D001024:Aortic Valve Stenosis / Q000175:diagnosis / Q000209:etiology* / Q000601:surgery; D002637:Chest Pain; D004417:Dyspnea; D005260:Female; D019918:Heart Valve Prosthesis Implantation; D006579:Heterozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000150:complications* / Q000235:genetics; D008875:Middle Aged