Genetic background of mitral valve prolapse

Mitral valve prolapse (MVP) has a prevalence of 2–3% among the population. It involves a heterogeneous group of patients with different expressions and according to the phenotype can be further divided into fibroelastic deficiency, which is mainly considered as a degeneration due to aging, and myxomatous disease, frequently associated with familiar clusters. Thus, MVP can be present in syndromic, when part of a well-defined syndrome, and non-syndromic forms. The latter occurs more often. To the second belong both familiar and isolated or sporadic forms. On one hand, among familial forms, although X-linked transmission related to FLNA gene was initially identified, further studies reported also autosomal dominant mode involving MVPP genes, including DCHS1. On the other hand, genome-wide association studies (GWAS), among unrelated patients, allowed the identification of new MVP-associated genes, such as LMCD1, GLIS, and TNS1. Moreover, single nucleotide polymorphisms (SNPs) on metalloproteinase genes have been related to MVP. Interestingly some genes such as DCHS1 and DZIP1 have been reported to be involved in both familiar and isolated forms. The present review aims to illustrate the updated genetic background of MVP.