Systemic under treatment of heart disease in patients with Duchenne muscular dystrophy

Abstract

Duchenne muscular dystrophy is a devastating muscle disease characterized by muscle deterioration and cardiomyopathy. The cardiomyopathy is progressive in nature, marked by the accumulation of myocardial scarring and the loss of contractile function. The presence of cardiac disfunction is nearly universal in individuals with Duchenne muscular dystrophy with dysfunction being evident in patients < 10 years of age. In recognition of importance of prophylactic treatment, clinical guidelines recommend beginning treatment of the heart disease in Duchenne muscular dystrophy patients at 10 years of age, even in the absence of cardiac dysfunction. This manuscript evaluates the current practices of treatment of dystrophic cardiomyopathy. We make use of clinical data compiled by the Muscular Dystrophy Association to assess changes in medical management of cardiac disease in Duchenne muscular dystrophy patients in response to changes in guidelines. We find since the issuance of new guidelines Duchenne muscular dystrophy patients receiving cardiac-directed therapy are beginning it at significantly younger ages. However, we show that 64 % of individuals with Duchenne muscular dystrophy are not receiving the recommended cardiac therapies. The underlying causes of this gap in guideline adherence are complex but correcting this deficiency represent a significant opportunity to improve the clinical management of dystrophic cardiomyopathy.

Keywords: Clinical management; Duchenne muscular dystrophy; Dystrophic cardiomyopathy.