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Cardiac involvement in a family with Becker muscular dystrophy
1First Department of Internal Medicine, Kobe University School of Medicine.
Insights
Becker muscular dystrophy (BMD) can present with heart problems before skeletal muscle symptoms. A genetic mutation in the dystrophin gene was identified in a family with cardiac and muscle issues.
Area of Science:
- Genetics
- Cardiology
- Neuromuscular Disorders
Background:
- Becker muscular dystrophy (BMD) is a genetic disorder characterized by progressive muscle weakness.
- Cardiac involvement is a known complication of BMD, but its presentation can vary.
- This study investigates a family with BMD where cardiac symptoms preceded skeletal muscle weakness.
Observation:
- The proband, a 41-year-old Japanese man, presented with exertional dyspnea and muscle weakness.
- Cardiac examination revealed dilated cardiomyopathy.
- Immunohistochemical analysis showed abnormal dystrophin staining in cardiac and skeletal muscles.
Findings:
- The proband and his brothers exhibited high creatine kinase (CK) levels and abnormal electrocardiograms.
- Genetic analysis identified a G-to-T transversion mutation in exon 13 of the dystrophin gene in affected family members.
- The mutation resulted in a discontinuous, patchy dystrophin staining pattern.
Implications:
- The findings suggest that cardiac involvement can be an early, preceding symptom of Becker muscular dystrophy.
- This highlights the importance of cardiac screening in families with a history of BMD or related genetic mutations.
- Early identification of cardiac issues may allow for timely intervention and improved patient management.
Abstract:
We report a family with Becker muscular dystrophy (BMD) presenting with cardiac involvement. The proband was a 41-year-old Japanese man who was hospitalized with exertional dyspnea and muscle weakness. Cardiac examination showed findings consistent with dilated cardiomyopathy. Dystrophin immunohistochemical analysis showed a discontinuous patchy staining pattern in cardiac and skeletal muscles biopsied from the proband. His brothers had high creatine kinase (CK) activity and abnormal electrocardiogram. Dystrophin gene analysis revealed that the proband and his brothers had G-to-T transversion at the terminal nucleotide of exon13. We conclude that the mutated dystrophin gene may cause cardiac involvement as a symptom precedent to skeletal muscle involvement.