Novel rod domain duplication in dystrophin resulting in X-linked dilated cardiomyopathy | DuchenneXchange

welcome to DuchenneXchange

- a positively charged Duchenne muscular dystrophy community.
  • join today!
Scientific Articles

Novel rod domain duplication in dystrophin resulting in X-linked dilated cardiomyopathy

key information

source: Pediatric Neurology

year: 2015

authors: Chamberlain RC, Smith EC, Campbell MJ

summary/abstract:

BACKGROUND:

X-linked dilated cardiomyopathy is a rare, cardio-specific form of dystrophinopathy allelic to Duchenne and Becker muscular dystrophy that results in heart failure without skeletal muscle weakness.

 

PATIENT DESCRIPTION:

We describe a previously healthy 16-year-old boy who presented with palpitations progressing to heart failure who was ultimately found to have a novel duplication of exons 13-16 in the dystrophin gene resulting in diagnosis of X-linked dilated cardiomyopathy.

 

RESULTS:

The patient was diagnosed with X-linked dilated cardiomyopathy through clinical diagnosis and genetic testing.

 

CONCLUSION:

X-linked dilated cardiomyopathy shares genotypic overlap with Duchenne and Becker muscular dystrophy, with its distinctive feature being a lack of progressive muscular weakness.

 

organisation: Duke University Medical Hospital, North Carolina

DOI: 10.1016/j.pediatrneurol.2015.07.008

read more