The genetics of mitral valve prolapse

  title={The genetics of mitral valve prolapse},
  author={JB Grau and Luigi Pirelli and Pey‐Jen Yu and AC Galloway and Harry Ostrer},
  journal={Clinical Genetics},
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… 

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The current knowledge of the diagnosis, epidemiology, prognosis, and genetic mechanisms underlying the pathogenesis and progression of mitral valve prolapse are summarized.

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Until subclassification based on refined clinical, genetic, and laboratory investigations is possible, patients evaluated for the possible diagnosis of a heritable disorder of connective tissue are best seen as having an "overlap" heritable connective-tissue disorder.

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