Duchenne's cardiomyopathy: two case reports

Area of Science:

• Cardiology
• Neurology
• Genetics

Background:

• Duchenne muscular dystrophy (DMD) is a severe X-linked genetic disorder.
• Cardiac involvement is a common and serious complication of DMD.
• Sporadic cases of DMD, particularly with severe cardiac manifestations, are less understood.

Observation:

• Two male patients presented with severe cardiac dysfunction and elevated serum creatine kinase.
• Clinical examination revealed mild skeletal myopathy and episodes of myoglobinuria upon exertion.
• Left ventriculography demonstrated diffuse severe hypokinesia, indicative of significant heart muscle impairment.

Findings:

• Skeletal muscle biopsy confirmed a dystrophic process consistent with DMD.
• Neither patient had a family history of DMD, suggesting a sporadic inheritance pattern.
• Both patients exhibited severe cardiac involvement despite minimal skeletal muscle symptoms.

Implications:

• These cases highlight the potential for sporadic DMD with severe cardiac phenotypes.
• Understanding sporadic inheritance patterns is crucial for accurate diagnosis and genetic counseling.
• Further research is needed to elucidate the genetic mechanisms underlying sporadic DMD and its cardiac complications.