Guicciardi Nicolò Azzola, De Bonis Michele, Di Resta Chiara, Ascione Guido, Alfieri Ottavio, Maisano Francesco, Vergara Pasquale
Cardiac Surgery, IRCCS San Raffaele Scientific Institute, 20132 Milano, Italy.
Vita-Salute University, IRCCS San Raffaele Scientific Institute, 20132 Milano, Italy.
Rev Cardiovasc Med. 2022 Mar 12;23(3):96. doi: 10.31083/j.rcm2303096.
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 gene was initially identified, further studies reported also autosomal dominant mode involving genes, including . On the other hand, genome-wide association studies (GWAS), among unrelated patients, allowed the identification of new MVP-associated genes, such as , , and . Moreover, single nucleotide polymorphisms (SNPs) on metalloproteinase genes have been related to MVP. Interestingly some genes such as and have been reported to be involved in both familiar and isolated forms. The present review aims to illustrate the updated genetic background of MVP.
二尖瓣脱垂（MVP）在人群中的患病率为2%-3%。它涉及一组表现各异的异质性患者，根据表型可进一步分为纤维弹性组织缺乏症，主要被认为是由于衰老导致的退化，以及黏液瘤病，常与家族聚集相关。因此，MVP可表现为综合征型（当它是明确综合征的一部分时）和非综合征型。后者更为常见。非综合征型包括家族性和散发性或孤立性形式。一方面，在家族性形式中，虽然最初发现与基因相关的X连锁遗传，但进一步研究也报道了涉及多个基因（包括……）的常染色体显性遗传模式。另一方面，在无亲缘关系的患者中进行的全基因组关联研究（GWAS），确定了新的与MVP相关的基因，如……、……和……。此外，金属蛋白酶基因上的单核苷酸多态性（SNP）与MVP有关。有趣的是，一些基因（如……和……）已被报道与家族性和散发性形式都有关。本综述旨在阐述二尖瓣脱垂最新的遗传背景。
