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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

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

Seth E Wakefield, Elliot L Dimberg, Steven A Moore

    Journal of Medical Case Reports
    |October 16, 2009
    PubMed

    Insights

    Becker's muscular dystrophy can present in adults with subtle symptoms affecting multiple organs. This case highlights how elevated liver enzymes may mask underlying cardiac and skeletal muscle issues, leading to delayed diagnosis.

    Area of Science:

    • Genetics
    • Neurology
    • Cardiology

    Background:

    • Dystrophin gene mutations are often associated with pediatric muscular dystrophy.
    • Early signs and symptoms can be subtle and overlooked in adults.
    • This case report broadens the perspective on the spectrum of affected individuals.

    Purpose of the Study:

    • To report a case of Becker's muscular dystrophy diagnosed in adulthood.
    • To illustrate the diagnostic challenges associated with this genetic disorder.
    • To highlight the multi-organ involvement and atypical presentation.

    Main Methods:

    • Case report of a 34-year-old Caucasian male.
    • Diagnostic workup included two liver biopsies and investigation of cardiac arrhythmia.
    • Genetic testing confirmed the diagnosis.

    Main Results:

    • The patient presented with elevated liver enzymes, initially misdiagnosed as a liver disorder.
    • Cardiac arrhythmia was discovered during an emergent appendectomy.
    • Genetic diagnosis revealed Becker's muscular dystrophy affecting skeletal and cardiac muscle.

    Conclusions:

    • Becker's muscular dystrophy can affect both skeletal and cardiac muscle in adults.
    • Elevated liver function tests may indicate cardiac or skeletal muscle origin, not solely liver pathology.
    • This case underscores the importance of considering genetic muscular dystrophies in adult diagnoses with atypical presentations.
    Abstract

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