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Cardiac Involvement in Women With Pathogenic Dystrophin Gene Variants

Tuva Å Solheim1, Freja Fornander1, Anna A Raja2

  • 1Department of Neurology, Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.

Frontiers in Neurology
|August 13, 2021
PubMed

Insights

Cardiac involvement is common in female carriers of pathogenic DMD variants, with over two-thirds showing heart issues. Early screening with ECG, Holter, and imaging is recommended for these women.

Area of Science:

  • Cardiology
  • Genetics
  • Neuromuscular Disorders

Background:

  • Pathogenic variants in the DMD gene, typically associated with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), can affect female carriers.
  • Cardiac complications are a known concern in DMD/BMD, but their prevalence in female carriers is less understood.

Purpose of the Study:

  • To investigate the frequency and extent of cardiac involvement in female carriers of pathogenic DMD variants.
  • To identify specific cardiac manifestations and risk factors in this population.

Main Methods:

  • An observational, cross-sectional study involving 53 genetically verified female carriers of pathogenic DMD variants.
  • Cardiac assessment included cardiac magnetic resonance imaging (CMR) with late gadolinium enhancement, echocardiography, 24-h Holter monitoring, and ECG.
  • Skeletal and cardiac muscle biomarkers were analyzed.

Main Results:

  • 62% of carriers exhibited cardiac dysfunction on echocardiography.
  • Myocardial fibrosis was detected in 49% via CMR, with dilated left ventricles in 35% and left ventricular hypertrophy in 10%.
  • Abnormal ECGs (72%) and Holter monitoring (43%) were frequent; fibrosis was more common in DMD-associated variant carriers (61% vs. 28%).

Conclusions:

  • Over two-thirds of female carriers of pathogenic DMD variants experience cardiac involvement affecting heart structure and function.
  • Early cardiac screening, including ECG, Holter monitoring, and cardiac imaging, is crucial for timely recognition and management.
  • Further longitudinal studies are necessary to evaluate the long-term morbidity and mortality associated with these variants in women.

Keywords:
cardiaccardiac MRIcardiac involvementdystrophinopathyechocardiographyfemale carriers

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