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一名伴有细丝蛋白A突变患者的双侧房室瓣脱垂的手术经验

Surgical experience for prolapse of both atrioventricular valves in a patient with filamin A mutation.

作者信息

Hoashi Takaya, Shiraishi Isao, Ichikawa Hajime

机构信息

1Department of Pediatric Cardiovascular Surgery,National Cerebral and Cardiovascular Center,Suita,Osaka,Japan.

2Department of Pediatric Cardiology,National Cerebral and Cardiovascular Center,Suita,Osaka,Japan.

出版信息

Cardiol Young. 2015 Feb;25(2):365-7. doi: 10.1017/S1047951114000122. Epub 2014 Feb 13.

DOI:10.1017/S1047951114000122
PMID:24521555
Abstract

A 21-year-old man underwent mitral valve replacement and tricuspid annuloplasty for severe mitral regurgitation and moderate tricuspid regurgitation. Until the operation, he had been treated for hypermobility type Ehlers-Danlos syndrome. Gene examination revealed a mutation in filamin A gene, which is the gene responsible for X-linked myxomatous valvular dystrophy.

摘要

一名21岁男性因严重二尖瓣反流和中度三尖瓣反流接受了二尖瓣置换术和三尖瓣环成形术。在手术前，他一直在接受活动过度型埃勒斯-当洛综合征的治疗。基因检测发现细丝蛋白A基因发生突变，该基因是导致X连锁黏液瘤样瓣膜营养不良的基因。

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