Department of Surgery, Temple University, Philadelphia, Pennsylvania 19140, USA.
Annu Rev Med. 2012;63:277-92. doi: 10.1146/annurev-med-022811-091602.
Mitral valve prolapse is defined as abnormal bulging of the mitral valve leaflets into the left atrium during ventricular systole. Mitral valve prolapse is a common condition that is a risk factor for mitral regurgitation, congestive heart failure, arrhythmia, and endocarditis. Myxomatous degeneration is the most common cause of mitral prolapse in the United States and Europe, and progression of myxomatous mitral prolapse is the most common cause of mitral regurgitation that requires surgical treatment. Myxomatous degeneration appears to have genetic etiology. The genetics of myxomatous degeneration is complex and not fully worked out; it appears to be heterogeneous with multi-gene, multi-chromosomal autosomal dominance with incomplete penetrance. The molecular disorder of myxomatous degeneration appears to consist of a connective tissue disorder with altered extracellular matrix status and involves the action of matrix metalloproteinase, cysteine endoproteases, and tenomodulin. Treatment of mitral prolapse with regurgitation is complex, and the technological advances that are currently in development will be challenging and controversial.
二尖瓣脱垂定义为左心室收缩时二尖瓣叶异常膨入左心房。二尖瓣脱垂是一种常见病症，是二尖瓣关闭不全、充血性心力衰竭、心律失常和心内膜炎的危险因素。黏液样变性是美国和欧洲二尖瓣脱垂最常见的原因，黏液样二尖瓣脱垂的进展是最常见的需要手术治疗的二尖瓣关闭不全的原因。黏液样变性似乎具有遗传病因。黏液样变性的遗传学复杂且尚未完全阐明；它似乎具有多基因、多染色体常染色体显性遗传的异质性，不完全外显。黏液样变性的分子紊乱似乎包括结缔组织紊乱，细胞外基质状态改变，并涉及基质金属蛋白酶、半胱氨酸内肽酶和腱调蛋白的作用。伴反流的二尖瓣脱垂的治疗很复杂，目前正在开发的技术进步将具有挑战性和争议性。
