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Cardiac involvement in Becker muscular dystrophy

P Melacini1, M Fanin, G A Danieli

  • 1Department of Cardiology, University of Padua, Italy.

Journal of the American College of Cardiology
|December 1, 1993
PubMed
Summary

Becker muscular dystrophy frequently causes heart problems, particularly early right ventricular dysfunction. Specific gene deletions, like exon 49, are strongly linked to cardiac disease in these patients.

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Area of Science:

  • Cardiology
  • Genetics
  • Neuromuscular Disorders

Background:

  • Becker muscular dystrophy (BMD) arises from dystrophin gene mutations affecting heart and skeletal muscles.
  • Cardiac and skeletal muscle symptoms are key clinical manifestations of BMD.

Purpose of the Study:

  • To determine the incidence of myocardial involvement in BMD.
  • To investigate the relationship between cardiac disease and specific molecular defects (DNA or protein level) in BMD.

Main Methods:

  • Thirty-one BMD patients underwent ECG, echocardiography, and 24-hour Holter monitoring.
  • Diagnosis confirmed via neurologic exam, dystrophin analysis (immunohistochemistry/Western blot), and DNA analysis.

Main Results:

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  • Abnormal ECG (68%) and echocardiograms (62%) were common. Right ventricular involvement occurred in 52% of patients.
  • Left ventricular impairment was seen in 10% (isolated) or 29% (with RV dysfunction). RV disease appeared in teenagers, LV in older patients.
  • Exon 49 deletion consistently correlated with cardiac involvement; exon 48 deletion was associated in all but two patients. No correlation found between skeletal muscle disease, cardiac issues, and dystrophin abnormalities.

    • Conclusions:

    • Cardiac manifestations in BMD typically involve early right ventricular dysfunction, potentially with left ventricular impairment.
    • Exon 49 deletion is a significant genetic marker associated with cardiac disease in Becker muscular dystrophy.