Dystrophin Cardiomyopathies: Clinical Management, Molecular Pathogenesis and Evolution towards Precision Medicine

Domenico D’Amario, Aoife Gowran, Francesco Canonico, Elisa Castiglioni, Davide Rovina, Rosaria Santoro, Pietro Spinelli, Rachele Adorisio, Antonio Amodeo, Gianluca Lorenzo Perrucci, Josip A. Borovac, Giulio Pompilio, Filippo Crea

Research output: Contribution to journalArticle


Duchenne's muscular dystrophy is an X-linked neuromuscular disease that manifests as muscle atrophy and cardiomyopathy in young boys. However, a considerable percentage of carrier females are often diagnosed with cardiomyopathy at an advanced stage. Existing therapy is not disease-specific and has limited effect, thus many patients and symptomatic carrier females prematurely die due to heart failure. Early detection is one of the major challenges that muscular dystrophy patients, carrier females, family members and, research and medical teams face in the complex course of dystrophic cardiomyopathy management. Despite the widespread adoption of advanced imaging modalities such as cardiac magnetic resonance, there is much scope for refining the diagnosis and treatment of dystrophic cardiomyopathy. This comprehensive review will focus on the pertinent clinical aspects of cardiac disease in muscular dystrophy while also providing a detailed consideration of the known and developing concepts in the pathophysiology of muscular dystrophy and forthcoming therapeutic options.
Original languageEnglish
Pages (from-to)291-N/A
JournalJournal of Clinical Medicine
Publication statusPublished - 2018


  • Duchenne muscular dystrophy
  • cardiomyopathy
  • cardiomyopathy in muscular dystrophy
  • dilated
  • dystrophin
  • heart failure
  • personalized medicine


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