title: Aortic stenosis associated with Scheie's syndrome. Report of successful valve replacement.
abstract: A 62-year-old man who had aortic stenosis associated with Scheie's syndrome (mucopolysaccharidosis [MPS], type I-S) successfully underwent aortic valve replacement. The composition of acidic glycosaminoglycans (acid mucopolysaccharides) of the excised aortic valve analyzed by high-performance liquid chromatography (HPLC) supported the diagnosis of Scheie's syndrome. This article reviews the literature on aortic stenosis in MPS, a rare inherited metabolic disorder, and discusses biochemical features and surgical repair.
authors.affiliation: Second Department of Surgery, Kagoshima University Faculty of Medicine, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Masuda
authors.forename: Y
authors.initials: Y
authors.lastname: Morishita
authors.forename: A
authors.initials: A
authors.lastname: Taira
authors.forename: M
authors.initials: M
authors.lastname: Kuriyama
mesh_terms: D001021:Aortic Valve; D001024:Aortic Valve Stenosis / Q000175:diagnosis / Q000235:genetics / Q000601:surgery*; D006350:Heart Valve Prosthesis; D006801:Humans; D008297:Male; D008875:Middle Aged; D008059:Mucopolysaccharidosis I / Q000175:diagnosis / Q000235:genetics / Q000601:surgery*