The genetics of mitral valve prolapse

@article{Grau2007TheGO,
  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},
  year={2007},
  volume={72}
}
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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References

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TLDR
The results of a genome scan are described and it is shown that a locus for MVP maps to chromosome 11p15, and a new MVP locus, MMVP2, is confirmed, which confirms the genetic heterogeneity of this disorder.

New Locus for Autosomal Dominant Mitral Valve Prolapse on Chromosome 13: Clinical Insights From Genetic Studies

TLDR
The mapping of a new MVP locus to chromosome 13 confirms the observed genetic heterogeneity and represents an important step toward gene identification, and provides clinical lessons with regard to previously nondiagnostic morphologies.

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TLDR
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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TLDR
By systematic echocardiographic screening of the first-degree relatives of 17 patients who underwent mitral-valve repair, four pedigrees showing an autosomal dominant inheritance of the trait are identified, demonstrating the genetic heterogeneity of the disease.

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TLDR
Results of this study indicate that mitral valve prolapse is transmitted in an autosomal dominant mode with reduced male expressivity and a familial prevalence of 47% and that appropriate echocardiographic techniques must be employed to avoid a high incidence of false positive diagnosis.

Inheritance of mitral valve prolapse: effect of age and sex on gene expression.

TLDR
The familial prevalence of prolapse was similar whether or not the proband had characteristic symptoms, auscultatory abnormalities, electrocardiographic findings, thoracic bony abnormalities, or coexistent heart disease.
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