Combined aortic and mitral stenosis in mucopolysaccharidosis type I-S (Ullrich-Scheie syndrome)

The genetic mucopolysaccharidosis syndromes (IMPS) are autosomal recessive inborn errors of metabolism. Heart valve involvement in RIPS is not uncommo n but only a few case reports of successful cardiac surgery are available. In particular, reports of combined aortic and mitral stenosis associated wi th IMPS type I-S are very rare. Both type I and type VI RIPS are associated with significant left sided valvar heart disease that requires surgical va lve replacement because of irregular valve thickening, fibrosis, and calcif ication. A 35 year old man had severe mitral valve stenosis after successfu l surgical replacement of a stenotic aortic valve. Valvar heart disease was investigated by cardiac ultrasound and left heart catheterisation. Histomo rphological characterisation of the affected mitral valve was performed. Th e case illustrates typically associated clinical features of cardiac and ex tracardiac abnormalities found in RIPS type I-S.