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Review
A current approach to heart failure in Duchenne muscular dystrophy
  1. Domenico D'Amario1,
  2. Antonio Amodeo2,
  3. Rachele Adorisio2,
  4. Francesco Danilo Tiziano3,
  5. Antonio Maria Leone1,
  6. Gianluigi Perri1,2,
  7. Piergiorgio Bruno1,
  8. Massimo Massetti1,
  9. Alessandra Ferlini4,
  10. Marika Pane5,
  11. Giampaolo Niccoli1,
  12. Italo Porto1,
  13. Gianluca A D’Angelo1,
  14. Josip Anđelo Borovac6,
  15. Eugenio Mercuri5,
  16. Filippo Crea1
  1. 1Department of Cardiovascular Medicine, Catholic University of the Sacred Heart, Rome, Italy
  2. 2Department of Paediatric Cardiology and Cardiac Surgery, Bambino Gesù Hospital, Rome, Italy
  3. 3Institute of Medical Genetics, Catholic University of the Sacred Heart, Rome, Italy
  4. 4Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy
  5. 5Department of Neurology, Catholic University of the Sacred Heart, Rome, Italy
  6. 6School of Medicine, University of Split, Split, Croatia
  1. Correspondence to Dr Domenico D'Amario, Institute of Cardiology,Catholic University of the Sacred Heart, Largo A. Gemelli, 8, 00168 Rome, Italy; domenico.damario{at}gmail.com

Abstract

Duchenne muscular dystrophy (DMD) is a genetic, progressive neuromuscular condition that is marked by the long-term muscle deterioration with significant implications of pulmonary and cardiac dysfunction. As such, end-stage heart failure (HF) in DMD is increasingly becoming the main cause of death in this population. The early detection of cardiomyopathy is often challenging, due to a long subclinical phase of ventricular dysfunction and difficulties in assessment of cardiovascular symptomatology in these patients who usually loose ambulation during the early adolescence. However, an early diagnosis of cardiovascular disease in patients with DMD is decisive since it allows a timely initiation of cardioprotective therapies that can mitigate HF symptoms and delay detrimental heart muscle remodelling. Echocardiography and ECG are standardly used for screening and detection of cardiovascular abnormalities in these patients, although these tools are not always adequate to detect an early, clinically asymptomatic phases of disease progression. In this regard, cardiovascular magnetic resonance (CMR) with late gadolinium enhancement is emerging as a promising method for the detection of early cardiac involvement in patients with DMD. The early detection of cardiac dysfunction allows the therapeutic institution of various classes of drugs such as corticosteroids, beta-blockers, ACE inhibitors, antimineralocorticoid diuretics and novel pharmacological and surgical solutions in the multimodal and multidisciplinary care for this group of patients. This review will focus on these challenges and available options for HF in patients with DMD.

  • heart failure
  • muscular dystrophy, Duchenne
  • cardiomyopathy, dilated
  • therapeutics

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Footnotes

  • Contributors Conception or design of the work: DDA, AA, RA, FC. Data and literature collection: AA, RA, FDT, AML, GP, PB, MM, AF, MP, GN, IP, GADA, JAB, EM, FC. Analysis of the literature and interpretation: DDA, AA, RA, FDT, AML, GP, PB, MM, AF, MP, GN, IP, GADA, JAB, EM, FC. Drafting the article: DDA, AA, RA. JAB, EM, FDT, FC. Critical revision of the article: AA, JAB, EM, FC. Final approval of the version to be published: DDA, AA, RA, FDT, AML, GP, PB, MM, AF, MP, GN, IP, GADA, JAB, EM, FC.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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