X连锁型肌营养不良症中二尖瓣脱垂的家族性发病情况。

Familial occurrence of mitral valve prolapse in X-linked muscular dystrophy.

作者信息

Biddison J H, Dembo D H, Spalt H, Hayes M G, LeDoux C W

出版信息

Circulation. 1979 Jun;59(6):1299-304. doi: 10.1161/01.cir.59.6.1299.

DOI:10.1161/01.cir.59.6.1299

Abstract

A high incidence of mitral valve prolapse (MVP) has been reported in patients with X-linked Duchenne muscular dystrophy. In our study MVP was present in six of 22 Duchenne dystrophy cases (27%) followed in the Maryland General Hospital Muscular Dystrophy Clinic. In addition, seven carriers of Duchenne and X-linked benign (Becker) dystrophy had evidence of MVP. Autosomal dominant transmission of MVP was present in four families. The unusually high prevalence of MVP in families with X-linked muscular dystrophy may have potential value in the recognition of the carrier trait.

摘要

据报道，X连锁型杜氏肌营养不良患者中二尖瓣脱垂（MVP）的发生率较高。在我们的研究中，马里兰综合医院肌营养不良诊所随访的22例杜氏肌营养不良病例中有6例（27%）存在MVP。此外，7名杜氏和X连锁良性（贝克）肌营养不良的携带者有MVP的证据。MVP在4个家族中呈常染色体显性遗传。X连锁型肌营养不良家族中MVP的异常高患病率可能对识别携带者特征具有潜在价值。