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Published on: May 19, 2020
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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
Summary
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.
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