综合征型与非综合征型二尖瓣脱垂及其遗传学研究进展  

Research progress of syndromic and non-syndromic mitral valve prolapse and its genetics

作　　者：郑茜斤 王浩旭 黄焕雷 ZHENG Xijin;WANG Haoxu;HUANG Huanlei(South China University of Technology School of Medicine,Guangzhou,510006,P.R.China;The First Affiliated Hospital of Wenzhou Medical University,Yueqing Third People's Hospital,Wenzhou,325000,Zhejiang,P.R.China;Department of Cardiovascular Surgery,Guangdong Cardiovascular Institute,Guangdong Provincial People’s Hospital,Guangdong Academy of Medical Sciences,Guangzhou,510080,P.R.China)

机构地区：[1]华南理工大学医学院,广州510006 [2]温州医科大学附属第一医院乐清市第三人民医院,浙江温州325000 [3]广东省心血管病研究所广东省人民医院(广东省医学科学院)心外科,广州510080

出　　处：《中国胸心血管外科临床杂志》2023年第11期1645-1650,共6页Chinese Journal of Clinical Thoracic and Cardiovascular Surgery

基　　金：广东省基础与应用基础研究基金项目(2019B1515120071)。

摘　　要：二尖瓣脱垂(mitral valve prolapse,MVP)是一种常见的心脏瓣膜疾病,影响2%~3%的普通人群。其可表现为二尖瓣反流,是二尖瓣手术的主要适应证。MVP包括综合征和非综合征两种形式。综合征型MVP与结缔组织疾病有关,如马凡综合征。非综合征型MVP包括弥漫性黏液样变性或巴洛氏病和纤维蛋白缺失病。MVP是一种以收缩晚期喀喇音或二尖瓣瓣叶在心室收缩期向上移位入左心房,伴或不伴有二尖瓣关闭不全的常见疾病。超声心动图将MVP定义为收缩期二尖瓣一个或两个瓣叶脱入左心房,超过瓣环连线水平2 mm以上。近年来基因组学、影像学技术的发展使我们能更好地了解MVP的发病机制,为进一步预防和治疗提供可能性。本文对MVP的流行病学、病因学、病理组织学、诊断和遗传学方面的研究进展进行综述。Mitral valve prolapse(MVP)is a common heart valve disease that affects 2%-3%of the general population.It can be manifested as mitral valve regurgitation and is the main indication for mitral valve surgery.MVP includes two forms of syndrome and non-syndrome.Syndromic MVP is associated with connective tissue diseases,such as Marfan syndrome.Non-syndromic MVP includes diffuse myxomatous mitral valve disease or Barlow’s disease and fibroelastic deficiency.MVP is a common disease in which late systolic clicks or mitral valve leaflets shift upward into the left atrium during ventricular systole,with or without mitral regurgitation.Echocardiography defines MVP as the prolapse of one or two leaflets of the mitral valve into the left atrium during systole,exceeding the level of the annulus line by more than 2 mm.In recent years,the development of genomics and imaging technology has enabled us to better understand the pathogenesis of MVP and provide possibilities for further prevention and treatment.This article reviews the research progress of MVP in epidemiology,etiology,histopathology,diagnosis and genetics.

关 键 词：二尖瓣脱垂 黏液样变性 基因 综述 

分 类 号：R542.51[医药卫生—心血管疾病]