RT Journal Article
SR Electronic
T1 Combined aortic and mitral stenosis in mucopolysaccharidosis type I-S (Ullrich-Scheie syndrome)
JF Heart
JO Heart
FD BMJ Publishing Group Ltd and British Cardiovascular Society
SP 97
OP 99
DO 10.1136/hrt.81.1.97
VO 81
IS 1
A1 T A Fischer
A1 H-A Lehr
A1 U Nixdorff
A1 J Meyer
YR 1999
UL http://heart.bmj.com/content/81/1/97.abstract
AB 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.