What are the guidelines for surveillance in Duchenne's Muscular Dystrophy (DMD)?

From the Guidelines

Duchenne muscular dystrophy (DMD) patients should undergo an initial cardiac evaluation with examination, ECG, and imaging at diagnosis, followed by every-2-year cardiac evaluation until age 10, and then annual evaluation thereafter, as recommended by the American Heart Association 1. The management of DMD requires a comprehensive approach, including regular surveillance of cardiac involvement. According to the American Heart Association guidelines, all DMD patients should have an initial cardiac evaluation at diagnosis, including examination, ECG, and imaging 1.

• Key recommendations for cardiac evaluation include:
  • Every-2-year cardiac evaluation by examination, ECG, and noninvasive imaging in asymptomatic DMD patients <10 years of age, increasing to annual evaluation at 10 years of age 1
  • Annual evaluation for asymptomatic DMD patients with LV dilation or dysfunction or arrhythmia 1
  • More frequent evaluation for symptomatic DMD patients, with testing and frequency determined by the provider and clinical status 1
• The use of echocardiography is recommended for routine screening and follow-up care of DMD patients, with consideration of advanced tissue imaging modalities, such as cardiac MRI, for assessment of cardiac function and myocardial fibrosis 1.
• Additionally, ambulatory electrocardiographic monitoring is recommended every 1 to 3 years, based on age, EF, and clinical assessment 1. Regular cardiac monitoring is crucial in DMD patients, as cardiac involvement is a major contributor to morbidity and mortality in this population. By following these guidelines, healthcare providers can ensure timely detection and management of cardiac complications, ultimately improving quality of life and potentially extending survival for DMD patients.

From the Research

Surveillance Guidelines for Duchenne's Muscular Dystrophy

• The management of Duchenne muscular dystrophy (DMD) requires a multidisciplinary approach, including orthopedic care, rehabilitation, and cardiac monitoring 2, 3, 4.
• Cardiac imaging, such as echocardiography and cardiac magnetic resonance imaging, plays a crucial role in characterizing the cardiac natural history of DMD and detecting cardiomyopathy 3, 4.
• Annual echocardiography and Holter ECG are recommended for patients with DMD and Becker-Kiener muscular dystrophy (BMD) over 10 years old to monitor cardiac function and detect potential complications 4.
• Noninvasive ventilation (NIV) and mechanically assisted cough can prolong survival and improve quality of life for patients with DMD 5.
• A genetic diagnosis is essential for confirming the diagnosis of DMD, and guidelines for multidisciplinary care have been established to manage the various aspects of the disease 6.
• Regular monitoring of muscle function, respiratory status, and cardiac function is necessary to detect potential complications and adjust treatment plans accordingly 2, 3, 4, 5, 6.

Cardiac Surveillance

• Cardiac imaging can detect cardiac dysfunction and cardiomyopathy in patients with DMD 3, 4.
• Annual echocardiography and Holter ECG can help identify potential cardiac complications and monitor the effectiveness of treatment 4.
• Cardiac magnetic resonance imaging can provide more detailed information about cardiac function and structure in patients with DMD 3.

Respiratory Surveillance

• Noninvasive ventilation (NIV) can prolong survival and improve quality of life for patients with DMD 5.
• Regular monitoring of respiratory function, including vital capacity and maximum insufflation capacity, is necessary to detect potential complications and adjust treatment plans accordingly 5.
• Mechanically assisted cough can help prevent respiratory complications and improve outcomes for patients with DMD 5.

Musculoskeletal Surveillance

• Orthopedic care is essential for managing musculoskeletal complications, such as joint contractures, scoliosis, and osteoporosis, in patients with DMD 2.
• Regular monitoring of muscle function and joint mobility is necessary to detect potential complications and adjust treatment plans accordingly 2.
• Rehabilitation therapies, such as physiotherapy and occupational therapy, can help maintain muscle function and improve quality of life for patients with DMD 2.