Dystrophinopathy presenting with arrhythmia in an asymptomatic 34-year-old man: a case report

Seth E Wakefield; Elliot L Dimberg; Steven A Moore; Brian S Tseng

doi:10.4076/1752-1947-3-8625

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Dystrophinopathy presenting with arrhythmia in an asymptomatic 34-year-old man: a case report

Journal article

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Dystrophinopathy presenting with arrhythmia in an asymptomatic 34-year-old man: a case report

Seth E Wakefield, Elliot L Dimberg, Steven A Moore and Brian S Tseng

Journal of medical case reports, Vol.3(1), pp.8625-8625

2009

DOI: 10.4076/1752-1947-3-8625

PMCID: PMC2737755

PMID: 19830234

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Abstract

Introduction: Important clues in the recognition of individuals with dystrophin gene mutations are illuminated in this case report. In particular, this report seeks to broaden the perspective of early signs and symptoms of a potentially life-limiting genetic disorder. This group of disorders is generally considered to be a pediatric muscular dystrophy when in actual fact, this case report may represent a spectrum of subclinically affected adults. Case presentation: We present the diagnostic saga of a 34-year-old Caucasian man who had two liver biopsies for elevated liver enzymes and 16 years later presented with a cardiac arrhythmia amidst an emergent appendectomy which finally led to his specific genetic diagnosis. Conclusions: This genetic disorder can affect more than one organ, and in our patient affected both skeletal and cardiac muscle. Furthermore, liver function tests when elevated may erroneously implicate a liver disorder when they actually reflect cardiac and skeletal muscle origin. Presented here is a patient with Becker's muscular dystrophy and cardiomyopathy.

Case report

Details

Title: Subtitle: Dystrophinopathy presenting with arrhythmia in an asymptomatic 34-year-old man: a case report
Creators: Seth E Wakefield - Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
Elliot L Dimberg - Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA
Steven A Moore - Department of Pathology, Roy J and Lucille A Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA
Brian S Tseng - Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
Resource Type: Journal article
Publication Details: Journal of medical case reports, Vol.3(1), pp.8625-8625
DOI: 10.4076/1752-1947-3-8625
PMID: 19830234
PMCID: PMC2737755
NLM abbreviation: J Med Case Rep
ISSN: 1752-1947
eISSN: 1752-1947
Publisher: BioMed Central
Language: English
Date published: 2009
Academic Unit: Pathology
Record Identifier: 9984046915802771

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