A novel dystrophin deletion mutation in a becker muscular dystrophy patient with early-onset dilated cardiomyopathy

Xiaoxiao Guo; Yi Dai; Liying Cui; Quan Fang

doi:10.1016/j.cjca.2014.05.002

A novel dystrophin deletion mutation in a becker muscular dystrophy patient with early-onset dilated cardiomyopathy

Can J Cardiol. 2014 Aug;30(8):956.e1-3. doi: 10.1016/j.cjca.2014.05.002. Epub 2014 May 6.

Authors

Xiaoxiao Guo¹, Yi Dai², Liying Cui², Quan Fang³

Affiliations

¹ Department of Cardiology, Peking Union Medical College Hospital, Beijing, China.
² Department of Neurology, Peking Union Medical College Hospital, Beijing, China.
³ Department of Cardiology, Peking Union Medical College Hospital, Beijing, China. Electronic address: quanfangxjn2013@163.com.

PMID: 24996370
DOI: 10.1016/j.cjca.2014.05.002

Abstract

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.

Publication types

Case Reports

MeSH terms

Cardiomyopathy, Dilated / diagnosis
Cardiomyopathy, Dilated / etiology*
Dystrophin / genetics*
Exons
Genetic Predisposition to Disease
Humans
Male
Muscular Dystrophy, Duchenne / diagnosis*
Muscular Dystrophy, Duchenne / genetics*
Sequence Deletion*
Young Adult

Substances

Dystrophin