Aortic stenosis associated with Scheie's syndrome. Report of successful valve replacement.
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.
Masuda
H
H
Second Department of Surgery, Kagoshima University Faculty of Medicine, Japan.
Morishita
Y
Y
Taira
A
A
Kuriyama
M
M
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*