Familial Mitral Valve Prolapse

Description

Mitral valve prolapse (MVP) has a prevalence of approximately 2 to 3% in the general population. It is characterized by fibromyxomatous changes in mitral leaflet tissue, with upward displacement of 1 or both leaflets into the left atrium during systole; MVP is diagnosed when the movement of the mitral leaflets exceeds 2 mm. In classic MVP, leaflets are at least 5 mm thick, whereas in nonclassic MVP, they are less than 5 mm thick. Auscultatory findings, when present, consist of a midsystolic click and/or a late systolic murmur. The natural history of MVP varies from benign, with a normal life expectancy, to severe complications associated with the development of significant mitral regurgitation, including congestive heart failure, bacterial endocarditis, atrial fibrillation, thromboembolism, and even sudden death. However, complications are uncommon, affecting less than 3% of individuals with MVP (Freed et al., 1999; Grau et al., 2007; Delling and Vasan, 2014).Grau et al. (2007) provided a detailed review of the genetics of mitral valve prolapse. Delling and Vasan (2014) reviewed the epidemiology and pathophysiology of MVP, with discussion of disease progression, genetics, and molecular basis. Genetic Heterogeneity of Familial Mitral Valve ProlapseSeveral loci for mitral valve prolapse (MVP) have been been mapped: MVP1 to chromosome 16p; MVP2 (OMIM ) to chromosome 11p; and MVP3 (OMIM ) to chromosome 13q.

Clinical Features

Top most frequent phenotypes and symptoms related to Familial Mitral Valve Prolapse

  • Intellectual disability
  • Short stature
  • Growth delay
  • Micrognathia
  • Pain
  • High palate
  • Cardiomyopathy
  • Atrial septal defect
  • Congestive heart failure
  • Long philtrum

And another 36 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Familial Mitral Valve Prolapse Is also known as myxomatous mitral valve prolapse 1, barlow syndrome, pmv, mmvp1, floppy mitral valve, myxomatous valvular disease, familial, mitral regurgitation, familial, mvp prolapsed mitral valve, mitral valve prolapse, myxomatous 1, click-murmur syndrome, mitral valve prolaps.

Researches and researchers

Doctors, researchs, and experts related to Familial Mitral Valve Prolapse extracted from public data.

Familial Mitral Valve Prolapse Experts map



Current Researchs and researchers

  • NANTES — Dr Jean-Jacques SCHOTT

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — Institut de Recherche en Santé - Université de Nantes
    • Research area/topic::

      I-CARE: MItral Valve Disease: From Genetics to Mechanisms and Improved CARE - FR


  • PARIS — Pr Albert HAGEGE

    Coordinator of expert centre - Clinical expert - Coordinator of research network

    • Institution/s:
      — INSERM U 633, CHU Paris IdF Ouest - HEGP Hôpital Européen Georges Pompidou
      — CHU Paris IdF Ouest - HEGP Hôpital Européen Georges Pompidou
    • Research area/topic::

      MITRAL



Mendelian

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Familial Mitral Valve Prolapse Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Periventricular nodular heterotopia (NGS panel of 8 genes).

By CGC Genetics (Portugal).

DCHS1, ARFGEF2, ERMARD, FAT4, FLNA, FMR1, LRP2, NEDD4L
Specificity
13 %
Genes
100 %
Periventricular nodular heterotopia (NGS panel of 8 genes).

By CGC Genetics (Portugal).

DCHS1, ARFGEF2, ERMARD, FAT4, FLNA, FMR1, LRP2, NEDD4L
Specificity
13 %
Genes
100 %
Van Maldergem Syndrome (Cerebro-Facio-Articular Syndrome) via DCHS1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

DCHS1
Specificity
100 %
Genes
100 %
Van Maldergem syndrome 1 Deletion / Duplication Test.

By Connective Tissue Gene Tests (United States).

DCHS1
Specificity
100 %
Genes
100 %
Van Maldergem syndrome 1 NGS Test.

By Connective Tissue Gene Tests (United States).

DCHS1
Specificity
100 %
Genes
100 %
Mitral valve prolapse 2 Comprehensive Test.

By Connective Tissue Gene Tests (United States).

DCHS1
Specificity
100 %
Genes
100 %
Mitral valve prolapse 2 Deletion / Duplication Test.

By Connective Tissue Gene Tests (United States).

DCHS1
Specificity
100 %
Genes
100 %
Van Maldergem syndrome 1 Comprehensive Test.

By Connective Tissue Gene Tests (United States).

DCHS1
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like POLYCYSTIC OVARY SYNDROME 1; PCOS1 NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION; HNARMD OTOPALATODIGITAL SYNDROME TYPE 1 ASPARTYLGLUCOSAMINURIA; AGU EPISODIC ATAXIA, TYPE 6; EA6 PULMONARY FIBROSIS, IDIOPATHIC; IPF EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1

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