Grau J B, Pirelli L, Yu P-J, Galloway A C, Ostrer H
Department of Cardiothoracic Surgery, New York University School of Medicine, New York, NY 10016, USA.
Clin Genet. 2007 Oct;72(4):288-95. doi: 10.1111/j.1399-0004.2007.00865.x.
Mitral valve prolapse (MVP) is a very common clinical condition that refers to a systolic billowing of one or both mitral valve leaflets into the left atrium. Improvements of echocardiographic techniques and new insights in mitral valve anatomy and physiology have rendered the diagnosis of this condition more accurate and reliable. MVP can be sporadic or familial, demonstrating autosomal dominant and X-linked inheritance. Three different loci on chromosomes 16, 11 and 13 have been found to be linked to MVP, but no specific gene has been described. Another locus on chromosome X was found to cosegregate with a rare form of MVP called 'X-linked myxomatous valvular dystrophy'. MVP is more frequent in patients with connective tissue disorders including Marfan syndrome, Ehlers-Danlos and osteogenesis imperfecta. The purpose of this review is to describe previous studies on the genetics and prevalence of MVP. The report warrants the need for further genetically based studies on this common, albeit not fully understood, clinical entity.
二尖瓣脱垂（MVP）是一种非常常见的临床病症，指一个或两个二尖瓣叶在收缩期膨入左心房。超声心动图技术的改进以及对二尖瓣解剖学和生理学的新认识使该病症的诊断更加准确和可靠。MVP可以是散发性的或家族性的，表现为常染色体显性遗传和X连锁遗传。已发现16号、11号和13号染色体上的三个不同位点与MVP相关，但尚未描述具体基因。在X染色体上发现了另一个位点，它与一种罕见的MVP形式“X连锁黏液瘤性瓣膜营养不良”共分离。MVP在患有结缔组织疾病（包括马凡综合征、埃勒斯-当洛综合征和成骨不全）的患者中更为常见。本综述的目的是描述先前关于MVP遗传学和患病率的研究。该报告表明有必要对这种常见但尚未完全了解的临床实体进行进一步基于遗传学的研究。
