Yosefy Chaim, Ben Barak Asaf
Cardiology Department, Barzilai Medical Centre Campus, Ben-Gurion University, Ashkelon, Israel.
J Heart Valve Dis. 2007 Nov;16(6):590-5.
Mitral valve prolapse (MVP) is a defect in the mitral valve where a redundancy of valve tissue is associated with a variety of clinical expressions, ranging from an isolated mild bulging of the mitral valve to a severe prolapse of the mitral valve with extensive mitral regurgitation. As the natural history and complications of MVP are not always benign, it seems essential to strive for the proper management of these patients. The identification of functionally related genes could provide helpful clues and increase the present understanding of the pathogenesis of MVP, with the ultimate goal of developing targeted therapies. The genetics of MVP can be divided into two parts: (i) Genetics in floppy mitral valve/MVP; and (ii) genetics in heritable connective tissue disorders (Marfan syndrome, polycystic kidney, etc.) associated with floppy mitral valve. Herein, the known genetic aspects of MVP are described, according to the above-mentioned scheme.
二尖瓣脱垂（MVP）是二尖瓣的一种缺陷，其中瓣膜组织冗余与多种临床表现相关，范围从二尖瓣孤立的轻度膨出到伴有大量二尖瓣反流的严重二尖瓣脱垂。由于MVP的自然病史和并发症并非总是良性的，因此对这些患者进行恰当管理似乎至关重要。鉴定功能相关基因可为MVP发病机制的研究提供有用线索并加深当前的理解，最终目标是开发靶向治疗方法。MVP的遗传学可分为两部分：（i） floppy二尖瓣/MVP的遗传学；（ii）与floppy二尖瓣相关的遗传性结缔组织疾病（马凡综合征、多囊肾等）的遗传学。在此，根据上述方案描述MVP已知的遗传学方面。
