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  • Review Article
  • Published:

Treatment of dystrophin cardiomyopathies

Nature Reviews Cardiology volume 11, pages 168–179 (2014)Cite this article

Subjects

Key Points

  • Patients with dystrophinopathies require presymptomatic cardiac treatment to delay the onset and reduce the severity of cardiac involvement

  • Treatment of symptomatic cardiac disease in patients with dystrophinopathies follows established guidelines for the treatment of cardiac disease and includes pharmacological and nonpharmacological measures

  • Nonpharmacological measures for the treatment of cardiac diseases in these patients include the implantation of a pacemaker, cardioverter–defibrillator, cardiac resynchronization therapy system, or ventricular assist devices, or heart transplantation

  • A strong association exists between cardiac and pulmonary disease in patients with dystrophinopathies, and pulmonary function should, therefore, be improved through scoliosis surgery and noninvasive positive pressure ventilation if indicated

Abstract

Treatment of cardiac disease in patients with dystrophinopathies substantially improves outcomes. In this Review, we summarize and discuss findings from the past 20 years and future perspectives for therapeutic options to treat cardiovascular disease in these patients. Their cardiac disease can be subclinical or symptomatic. Presymptomatic treatment with angiotensin-converting-enzyme inhibitors, angiotensin-II-receptor blockers, β-blockers, or mineralocorticoid-receptor antagonists is a well-established method to delay the clinical manifestations of cardiac disease. Treatment of patients with dystrophinopathy and symptomatic cardiac disease, such as heart failure or arrhythmia, follows well-established guidelines for the general treatment of cardiac disease. These treatments improve outcomes, particularly when supported by noncardiovascular measures in the advanced stages of cardiac involvement. Patients with dystrophinopathies and cardiac disease can also benefit from optimal management of scoliosis, noninvasive positive pressure ventilation, and from pain therapy. Molecular therapies for treating cardiac diseases in patients with dystrophinopathies are experimental, but promising.

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Figure 1: Mechanisms leading to calcium overload in dystrophic muscle cells.
Figure 2: Typical development of progressive cardiac involvement in patients with Duchenne muscular dystrophy or Becker muscular dystrophy.
Figure 3: Summary of treatment options for cardiac disease in patients with dystrophinopathy.
Figure 4: Advantages (left) and disadvantages (right) of steroid therapy for cardiac involvement in patients with Duchenne muscular dystrophy or Becker muscular dystrophy.

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Authors and Affiliations

  1. Neurological Department, Krankenanstalt Rudolfstiftung, Postfach 20, Vienna, 1180, Austria

    Josef Finsterer

  2. Department of Pediatrics, Nationwide Children's Hospital, 700 Childrens Drive, Columbus, 43205, OH, USA

    Linda Cripe

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Both authors researched data for the article, discussed its content, and wrote and reviewed the manuscript.

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Finsterer, J., Cripe, L. Treatment of dystrophin cardiomyopathies. Nat Rev Cardiol 11, 168–179 (2014). https://doi.org/10.1038/nrcardio.2013.213

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