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

T A Fischer1, H A Lehr, U Nixdorff

  • 1Department of Medicine II, University of Mainz, Langenbeckstrasse 1, 55101 Mainz, Germany.

Heart (British Cardiac Society)
|April 30, 1999
PubMed

Insights

Mucopolysaccharidosis (MPS) syndromes can cause severe heart valve disease. This case highlights rare combined aortic and mitral stenosis in MPS type I-S, emphasizing the need for surgical intervention.

Area of Science:

  • Cardiology
  • Genetics
  • Metabolic Disorders

Background:

  • Mucopolysaccharidosis (MPS) syndromes are rare genetic metabolic disorders.
  • Cardiac involvement, particularly left-sided valvar heart disease, is a known complication of MPS types I and VI.
  • Surgical intervention for valvar heart disease in MPS patients is infrequently reported.

Observation:

  • A 35-year-old male patient with MPS type I-S presented with severe mitral valve stenosis.
  • This occurred subsequent to a successful surgical aortic valve replacement for aortic stenosis.
  • The patient exhibited characteristic cardiac and extracardiac abnormalities associated with MPS type I-S.

Findings:

  • Histomorphological analysis revealed irregular valve thickening, fibrosis, and calcification in the affected mitral valve.
  • Cardiac ultrasound and left heart catheterization confirmed severe mitral valve stenosis.
  • This case represents a rare instance of combined aortic and mitral stenosis in MPS type I-S.

Implications:

  • Successful surgical management of complex valvar heart disease in MPS is feasible.
  • Early recognition and intervention for cardiac manifestations in MPS are crucial.
  • This case underscores the significant impact of MPS on cardiovascular health and the importance of specialized care.

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