The genetics of mitral valve prolapse

J. B. Grau, L. Pirelli, P. J. Yu, A. C. Galloway, Harry Ostrer

Research output: Contribution to journalReview articlepeer-review

61 Scopus citations


Mitral valve prolapse (MVP) is a very common clinical condition that refers to a systolic billowing of one or both mitral valve leaflets into the left atrium. Improvements of echocardiographic techniques and new insights in mitral valve anatomy and physiology have rendered the diagnosis of this condition more accurate and reliable. MVP can be sporadic or familial, demonstrating autosomal dominant and X-linked inheritance. Three different loci on chromosomes 16, 11 and 13 have been found to be linked to MVP, but no specific gene has been described. Another locus on chromosome X was found to cosegregate with a rare form of MVP called 'X-linked myxomatous valvular dystrophy'. MVP is more frequent in patients with connective tissue disorders including Marfan syndrome, Ehlers-Danlos and osteogenesis imperfecta. The purpose of this review is to describe previous studies on the genetics and prevalence of MVP. The report warrants the need for further genetically based studies on this common, albeit not fully understood, clinical entity.

Original languageEnglish (US)
Pages (from-to)288-295
Number of pages8
JournalClinical Genetics
Issue number4
StatePublished - Oct 2007
Externally publishedYes


  • Genetic profile
  • Mitral regurgitation
  • Mitral valve prolapse
  • Prevalence

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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