Novel Rod Domain Duplication in Dystrophin Resulting in X-Linked Dilated Cardiomyopathy.

Published

Journal Article

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.

Full Text

Duke Authors

Cited Authors

  • Chamberlain, RC; Smith, EC; Campbell, MJ

Published Date

  • November 2015

Published In

Volume / Issue

  • 53 / 5

Start / End Page

  • 439 - 441

PubMed ID

  • 26294044

Pubmed Central ID

  • 26294044

Electronic International Standard Serial Number (EISSN)

  • 1873-5150

Digital Object Identifier (DOI)

  • 10.1016/j.pediatrneurol.2015.07.008

Language

  • eng

Conference Location

  • United States