Introduction: Dystrophinopathies, due to mutations in the dystrophin gene, include four different phenotypes: Duchenne muscular Dystrophy (DMD), Becker muscular dystrophy (BMD), X-linked dilated cardiomyopathy (XL-DCM) and cardiomyopathy of Duchenne/Becker carriers. Areas covered: Dystrophinopathic cardiomyopathy is a stepwise process starting with a pre-symptomatic stage and evolving toward stages of overt heart involvement such as dilated cardiomyopathy, intractable heart failure and death. It is an almost constant feature of dystrophinopathies and often the first presentation of the disease. Strategic use of established medications might delay the evolution of heart involvement. Expert opinion: Treatment of cardiomyopathy is a major challenge for cardiologists routinely involved in the care of patients with dystrophinopathies. At least yearly cardiac appropriate work up with careful clinical examination and instrumental investigations including routine electrocardiogram (ECG), stress testing, long-term ECG, and echocardiography are recommended also in asymptomatic or minimal symptomatic patients to prevent the onset of serious events. More frequent controls may be necessary according to the stage of cardiomyopathy and patient’s needs. Adeno-associated virus-mediated gene therapy has recently been reported to significantly improve the outcomes in rodent models of DMD. Guidelines regarding the proper treatment of dystrophinopathic cardiomyopathy are necessary to enable patients to be eligible for future therapies.
|Titolo:||Managing dystrophinopathic cardiomyopathy|
|Autori interni:||POLITANO, Luisa|
|Data di pubblicazione:||2016|
|Rivista:||EXPERT OPINION ON ORPHAN DRUGS|
|Appare nelle tipologie:||1.1 Articolo in rivista|