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Genetic background of mitral valve prolapse

Nicolò Azzola Guicciardi1,2, Michele De Bonis1,2, Chiara Di Resta2,3

  • 1Cardiac Surgery, IRCCS San Raffaele Scientific Institute, 20132 Milano, Italy.

Reviews in Cardiovascular Medicine
|March 29, 2022
PubMed

Insights

Mitral valve prolapse (MVP) is a common condition with diverse genetic causes. This review details the updated genetic landscape of MVP, including familial and sporadic forms.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology
  • Genetic Epidemiology

Background:

  • Mitral valve prolapse (MVP) affects 2-3% of the population and presents with heterogeneous phenotypes.
  • MVP can be classified as fibroelastic deficiency (aging-related) or myxomatous disease (often familial).
  • MVP exists in syndromic and non-syndromic forms, with non-syndromic being more prevalent.

Purpose of the Study:

  • To provide an updated overview of the genetic factors contributing to mitral valve prolapse.
  • To consolidate current knowledge on genes implicated in both familial and sporadic MVP.
  • To highlight recent discoveries from genetic association studies.

Main Methods:

  • Review of existing literature on MVP genetics.
  • Analysis of findings from genome-wide association studies (GWAS).
  • Examination of genetic transmission patterns (X-linked, autosomal dominant).

Main Results:

  • Familial MVP is linked to genes like FLNA (X-linked) and MVPP genes (e.g., DCHS1, autosomal dominant).
  • GWAS identified novel MVP-associated genes in unrelated patients, including LMCD1, GLIS, and TNS1.
  • Single nucleotide polymorphisms in metalloproteinase genes and genes like DCHS1 and DZIP1 are associated with MVP in various forms.

Conclusions:

  • The genetic architecture of MVP is complex, involving multiple genes and inheritance patterns.
  • Understanding the genetic basis of MVP is crucial for diagnosis and potential therapeutic strategies.
  • Continued genetic research is essential to fully elucidate MVP etiology.
Keywords:
familiar formgeneticsgenome-wide studymitral valve diseasemitral valve prolapsesporadic formsyndromic form

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