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Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy
Published on: January 12, 2019
Cardiac assessment in duchenne and becker muscular dystrophies
Anitra Romfh1, Elizabeth M McNally
1Section of Cardiology, Department of Medicine, The University of Chicago, 5841 South Maryland Avenue, MC6088, Chicago, IL 60637, USA.
Insights
Duchenne and Becker muscular dystrophies, caused by dystrophin gene mutations, often involve cardiomyopathy. This review focuses on cardiac care guidelines for advanced Duchenne and Becker muscular dystrophy patients.
Area of Science:
- Cardiology
- Genetics
- Neuromuscular Disorders
Background:
- Duchenne and Becker muscular dystrophies result from dystrophin gene mutations.
- Cardiomyopathy is a common comorbidity, often independent of skeletal muscle disease severity.
- Cardiac dysfunction includes four-chamber dilation, reduced left ventricular function, and life-threatening arrhythmias.
Purpose of the Study:
- To review current care guidelines for Duchenne muscular dystrophy.
- To provide recommendations for monitoring and treating cardiac disease in advanced Duchenne and Becker muscular dystrophies.
Main Methods:
- Review of existing care guidelines.
- Synthesis of recommendations for cardiac disease management.
- Focus on surveillance and treatment strategies.
Main Results:
- Established care guidelines exist for younger Duchenne muscular dystrophy patients.
- Recommendations are provided for managing cardiac complications in advanced stages.
- Cardiac function is influenced by respiratory function in these dystrophies.
Conclusions:
- Cardiac monitoring and treatment are crucial for patients with Duchenne and Becker muscular dystrophies.
- Guidelines should be adapted for advanced disease stages.
- Multidisciplinary care is essential for optimal patient outcomes.
Abstract:
Mutations in the dystrophin gene cause Duchenne and Becker muscular dystrophies. In addition to muscle disease, there nearly always is an associated cardiomyopathy in Duchenne or Becker muscular dystrophy. In these muscular dystrophies, the severity of cardiomyopathy and congestive heart failure may not parallel the severity of skeletal muscle disease. Loss of normal dystrophin function in the heart produces four-chamber dilation and reduction in left ventricular function that develop after the onset of muscle weakness. Arrhythmias affecting both atrial and ventricular rhythms occur and may be life threatening. The degree to which hypoventilation and pulmonary dysfunction are present also directly affect cardiac function in muscular dystrophy. Care guidelines recently were issued to outline surveillance and treatment strategies for the younger patient with Duchenne muscular dystrophy. Herein, we review those guidelines, and additionally, provide recommendations for monitoring and treating cardiac disease in the populations of advanced Duchenne and Becker muscular dystrophies.
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