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Familial mitral valve prolapse

Disease definition

A rare familial congenital mitral malformation characterized by systolic displacement of one or both mitral leaflets >2 mm beyond the annular plane into the left atrium. Typical histological findings include myxomatous degeneration and degradation of collagen and elastin. Patients may remain asymptomatic or develop complications such as severe mitral regurgitation, endocarditis, and heart failure.


Classification level: Disorder
  • Synonym(s): -
  • Prevalence: -
  • Inheritance: Autosomal dominant 
  • Age of onset: -
  • ICD-10: I34.1
  • OMIM: 157700  607829  610840
  • UMLS: C0340364
  • MeSH: -
  • GARD: 3687
  • MedDRA: -
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