Department of Medicine, Division of Cardiovascular Medicine, The Ohio State University, Columbus, OH, USA.
Department of Cardiothoracic Surgery, St. Luke's Hospital, Thessaloniki, Greece.
Prog Cardiovasc Dis. 2020 May-Jun;63(3):308-326. doi: 10.1016/j.pcad.2020.03.004. Epub 2020 Mar 19.
Floppy mitral valve/mitral valve prolapse (FMV/MVP) is a common valvular abnormality affecting 2% to 3% of the general population. It occurs in a heterogeneous group of patients with varying and age dependent expressions. FMV/MVP can be familial or sporadic, isolated (called non-syndromic) or as a part of a well-defined syndrome of heritable connective tissue disorders or other diseases. A wide range of phenotypic expression exists ranging from asymptomatic to non-specific symptoms related to neuroendocrine or autonomic nervous system functional abnormalities, varying degrees of mitral regurgitation that may require interventional therapy, heart failure, infective endocarditis, cardiac arrhythmias and/or sudden cardiac death. FMV/MVP is predominantly considered a heritable disorder with clinical manifestations not present at birth, but appearing later in life. Though a variant gene may initiate the development of FMV/MVP, precise phenotypic expression may be related to multiple other molecular, genetic and epigenetic factors that modify the final expression of the disease. A better understanding of these mechanisms will help to better define the natural history of the disease, inhibit disease progression and even prevent the phenotypic expression of FMV/MVP.
二尖瓣脱垂（MVP）是一种常见的瓣膜异常，影响 2%至 3%的普通人群。它发生在一组具有不同和年龄依赖性表现的异质患者中。MVP 可以是家族性或散发性的，孤立的（称为非综合征性）或作为遗传性结缔组织疾病或其他疾病的明确综合征的一部分。存在广泛的表型表达范围，从无症状到与神经内分泌或自主神经系统功能异常相关的非特异性症状，不同程度的二尖瓣反流可能需要介入治疗、心力衰竭、感染性心内膜炎、心律失常和/或心源性猝死。MVP 主要被认为是一种遗传性疾病，其临床表现不是出生时就存在，而是在生命后期出现。虽然变异基因可能会引发 MVP 的发展，但确切的表型表达可能与多个其他分子、遗传和表观遗传因素有关，这些因素会改变疾病的最终表达。更好地了解这些机制将有助于更好地定义疾病的自然史、抑制疾病进展，甚至预防 MVP 的表型表达。
