Related Experiment Videos
Prevalent cardiac involvement in dystrophin Becker type mutation
G Siciliano1, M Fanin, C Angelini
1Institute of Neurology Clinic, University of Pisa, Italy.
Insights
Becker type muscular dystrophy can cause significant heart problems, even with mild muscle symptoms. This case highlights the importance of cardiac evaluation in dystrophinopathies.
Area of Science:
- Genetics and Molecular Biology
- Cardiology
- Neuromuscular Disorders
Background:
- Xp21-linked muscular dystrophies often involve cardiac muscle due to dystrophin deficiency.
- Dystrophinopathies encompass a spectrum of genetic disorders affecting muscle tissue.
Observation:
- A 41-year-old man presented with dilated cardiomyopathy, myoglobinuria upon exertion, and elevated creatine kinase.
- Clinical examination revealed only mild skeletal myopathy.
- The patient's mother had a history of undiagnosed heart disease and died young.
Findings:
- Muscle biopsy confirmed a dystrophic process.
- Dystrophin analysis and genetic study identified a deletion in the DMD gene (exons 45-48), confirming Becker type muscular dystrophy with truncated dystrophin.
- The patient exhibited significant cardiac involvement, characteristic of dystrophin deficiency.
Implications:
- This case underscores the significant cardiac impact of Becker type muscular dystrophy.
- It emphasizes the clinical variability of dystrophinopathies and the need for comprehensive cardiac assessment.
- Early diagnosis and management of cardiac complications are crucial for patients with dystrophinopathies.
Abstract:
Myocardial involvement is frequently present in Xp21-linked muscular dystrophy, due to a lack of dystrophin in cardiac fibres. We describe a 41-yr-old man affected by dilated cardiomyopathy with sporadic episodes of myoglobinuria induced by effort and increased levels of serum creatine kinase. Very mild signs of skeletal myopathy were clinically evident. His mother was affected by an indefinite cardiopathy and suddenly died when she was 36 yr old. Muscle biopsy of the patient showed a dystrophic process. Dystrophin analysis together with a genetic DMD locus study led us to diagnose Becker type muscular dystrophy, with truncated dystrophin and a gene deletion extending from exon 45 to 48. Prevalent cardiac involvement in a Becker type mutation of the dystrophin gene further confirms clinical variability of dystrophinopathies.