• Pediatric neurology · Nov 2015

    Case Reports

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

    • Reid C Chamberlain, Edward C Smith, and Michael J Campbell.
    • Department of Pediatrics, Duke University Medical Hospital, Durham, North Carolina. Electronic address: reid.chamberlain@duke.edu.
    • Pediatr. Neurol. 2015 Nov 1; 53 (5): 439-41.

    BackgroundX-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 DescriptionWe 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.ResultsThe patient was diagnosed with X-linked dilated cardiomyopathy through clinical diagnosis and genetic testing.ConclusionX-linked dilated cardiomyopathy shares genotypic overlap with Duchenne and Becker muscular dystrophy, with its distinctive feature being a lack of progressive muscular weakness.Copyright © 2015 Elsevier Inc. All rights reserved.

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