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[Mitral valve prolapse and type II mucopolysaccharidosis. Report of two familial cases]

V Sonino1, N Sekarski, J M Matthieu

  • 1Unité de cardiologie pédiatrique, centre hospitalier universitaire Vaudois (CHUV), Lausanne, Suisse.

Archives Des Maladies Du Coeur Et Des Vaisseaux
|July 4, 2001
PubMed

Insights

Type II mucopolysaccharidosis, a rare genetic disorder, often causes severe cardiac issues. This study highlights a unique case of mitral valve prolapse in two brothers with a milder form of Hunter

Area of Science:

  • Cardiology
  • Genetics
  • Metabolic Disorders

Background:

  • Type II mucopolysaccharidosis (Hunter's disease) is an inherited lysosomal storage disorder.
  • It results from iduronate sulfatase deficiency, leading to mucopolysaccharide accumulation.
  • Cardiac involvement, primarily aortic valve disease, is a hallmark of Hunter's disease.

Observation:

  • Two brothers with a milder form of Hunter's disease presented with distinct cardiac manifestations.
  • Both brothers exhibited classical mucopolysaccharide infiltration of their aortic valves.
  • Notably, both presented with mitral valve prolapse and regurgitation.

Findings:

  • The elder brother (11 years) had severe aortic insufficiency with mild stenosis, managed with vasodilators.
  • The younger brother (8 years) had asymptomatic mild aortic regurgitation.
  • The co-occurrence of mitral valve prolapse and Type II mucopolysaccharidosis, without other typical cardiac involvement, is rare, with only one prior report.

Implications:

  • This case underscores the variable cardiac presentations in Type II mucopolysaccharidosis, even in milder forms.
  • It highlights the importance of considering mitral valve prolapse in the cardiac evaluation of patients with Hunter's disease.
  • Further research may elucidate the specific mechanisms linking Hunter's disease to mitral valve prolapse.

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