6533b820fe1ef96bd1279a6c

RESEARCH PRODUCT

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

Lehr HaFischer TaNixdorff UJ. Meyer

subject

AdultMaleAortic valvecongenital hereditary and neonatal diseases and abnormalitiesmedicine.medical_specialtyMucopolysaccharidosis Imedicine.medical_treatmentCase ReportMitral valve stenosisValve replacementMitral valveInternal medicineMucopolysaccharidosis IHumansMitral Valve StenosisMedicinecardiovascular diseasesHeart valvebusiness.industrynutritional and metabolic diseasesAortic Valve Stenosismedicine.diseaseEchocardiography Doppler ColorCardiac surgerySurgerymedicine.anatomical_structureEchocardiographyAortic valve stenosiscardiovascular systemCardiologyMitral ValveCardiology and Cardiovascular Medicinebusiness

description

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.

 Keywords: valvar disease;  mucopolysaccharidosis;  mitral valve stenosis;  aortic valve stenosis

yearjournalcountryeditionlanguage
1999-04-30Heart
https://doi.org/10.1136/hrt.81.1.97