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

Nell'era della medicina personalizzata, vi è molta attesa per il continuo miglioramento delle opzioni di trattamento per i pazienti con distrofia muscolare, dalla terapia genica alla terapia cellulare. ( J Clin Med 2018 Sep 19)

28 September Sep 2018 23 days ago
  • Gowran A, Castiglioni E, Rovina D, Santoro R, Spinelli P, Perrucci GL, Pompilio G,

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 is focused 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.

In the era of personalized medicine there is much hope for continued improvement of treatment options for muscular dystrophic (MD) patients ranging from gene therapy to cell therapy-based products. However, the MD community, as a whole, must continue strieving for meaningful treatment advances while simultaneously managing the epectations placed upon emerging therapies and research. Patient-specific cells cultured in optimized disease model platforms offer the possibility of bespoke, predictive therapies for dystrophic patients—the veritable ‘holy grail’ in MD-CM treatment.


Reference
1. D'Amario D, Gowran A, Canonico F, Castiglioni E, Rovina D, Santoro R, Spinelli P, Adorisio R, Amodeo A, Perrucci GL, Borovac JA, Pompilio G, Crea F. Dystrophin Cardiomyopathies: Clinical Management, Molecular Pathogenesis and Evolution towards Precision Medicine. J Clin Med 2018 Sep 19;7(9). pii: E291. doi: 10.3390/jcm7090291. Go to full text