Heart 1999;81:97-99 ( January )
Case report
Combined aortic and mitral stenosis in mucopolysaccharidosis type
I-S (Ullrich-Scheie syndrome)
a Department of
Medicine II, University of Mainz, Langenbeckstrasse 1, 55101 Mainz,
Germany, b Institute of Pathology, University of Mainz
Correspondence to: Dr Fischer.
Accepted for publication 29 June 1998
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.
© 1999 by Heart
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