Combined aortic and mitral stenosis in mucopolysaccharidosis type I-S (Ullrich-Scheie syndrome). Issue 1 (1st January 1999)

• Record Type: Journal Article
• Authors: Fischer, T A; Lehr, H-A; Nixdorff, U; Meyer, J
• Is Part Of: Heart. Volume 81:Issue 1(1999)
• Page Start: 97
• Page End: 99
• Publication Date: 1999-01-01
• Subjects: valvar disease -- mucopolysaccharidosis -- mitral valve stenosis -- aortic valve stenosis; Heart -- Diseases -- Treatment -- Periodicals; Cardiology -- Periodicals; 616.12
• DOI: 10.1136/hrt.81.1.97
• Languages: English
• ISSNs: 1355-6037

Abstract

Abstract : The genetic mucopolysaccharidosis syndromes (MPS) are autosomal recessive inborn errors of metabolism. Heart valve involvement in MPS is not uncommon but only a few case reports of successful cardiac surgery are available. In particular, reports of combined aortic and mitral stenosis associated with MPS type I-S are very rare. Both type I and type VI MPS are associated with significant left sided valvar heart disease that requires surgical valve replacement because of irregular valve thickening, fibrosis, and calcification. A 35 year old man had severe mitral valve stenosis after successful surgical replacement of a stenotic aortic valve. Valvar heart disease was investigated by cardiac ultrasound and left heart catheterisation. Histomorphological characterisation of the affected mitral valve was performed. The case illustrates typically associated clinical features of cardiac and extracardiac abnormalities found in MPS type I-S.