A Novel Dystrophin Deletion Mutation in a Becker Muscular Dystrophy Patient With Early-Onset Dilated Cardiomyopathy

作者：Guo, Xiaoxiao; Dai, Yi; Cui, Liying; Fang, Quan^*

来源：Canadian Journal of Cardiology, 2014, 30(8): 956.e1.

DOI：10.1016/j.cjca.2014.05.002

Becker muscular dystrophy (BMD) is a rare cause of dilated cardiomyopathy (DCM). We present a 23-year-old patient with BMD and early-onset DCM in whom cardiovascular magnetic resonance showed extensive myocardial late gadolinium enhancement and previously unreported findings of subepicardial fat infiltration in the lateral wall. In addition, this patient carried a rare mutation of dystrophin gene that might be a new genetic predisposition to early-onset DCM in BMD.

• 出版日期2014-8
• 单位中国医学科学院北京协和医院