Duchenne muscular dystrophy: an overview to the cardiologist
Fabio de Souza1, Caroline Bittar Braune2, Ana Paula Cassetta Dos Santos Nucera1
1Cardiology Section, Department of Specialized Medicine, School of Medicine and Surgery, Federal University of the State of Rio De Janeiro , Rio de Janeiro, Brazil.
Insights
Early cardiac monitoring and treatment are crucial for improving survival in Duchenne muscular dystrophy (DMD) patients. This approach helps manage heart complications until advanced therapies become available.
Area of Science:
- Cardiology
- Neurology
- Genetics
Background:
- Duchenne muscular dystrophy (DMD) is a common childhood genetic disorder affecting 1 in 3,500-5,000 boys.
- Gait disturbances appear early, followed by respiratory and cardiac issues impacting prognosis.
Purpose of the Study:
- To update cardiologists on managing cardiac complications in DMD.
- To highlight practical treatment and follow-up strategies for DMD patients.
Main Methods:
- Review of current literature on DMD cardiac management.
- Emphasis on early cardiological evaluation using imaging techniques.
Main Results:
- Mechanical ventilation has improved survival age in DMD.
- Cardiac complications remain a major challenge, significantly impacting patient survival.
Conclusions:
- Early cardiac monitoring and stratification are key to prolonging life in DMD patients.
- Timely intervention can improve outcomes until novel therapies emerge.
- Accurate prognosis and progression prediction are essential for effective DMD care.
Introduction:
Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy in children, affecting approximately one in 3,500-5,000 liveborn boys. The main signs and symptoms include gait disturbances beginning in early childhood, with later onset of respiratory and cardiac function disorders, both directly affecting the prognosis.
Areas Covered:
The recent improvement of mechanical ventilation increased the mean DMD survival age; however, there has been little progress in the treatment and prevention of cardiac complications, which currently predominantly impact survival. Cardiological evaluation with imaging methods, such as echocardiography and magnetic resonance imaging, can improve the understanding and detect changes in cardiac function early.
Expert Opinion:
Close monitoring by the cardiologists and early treatment, with adequate heart disease stratification, may be the key to prolong the lives of these patients until more promising therapies are available and can predict DMD prognosis and progression more accurately. The objective of this brief review is to update the cardiologists by highlighting the most relevant aspects of treatment and follow-up, in a practical and concise way.
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