Duchenne Muscular Dystrophy Cardiomyopathy: Early Diagnosis and Treatment

Abstract

Duchenne muscular dystrophy (DMD) is an X-linked genetic disorder affecting approximately 1 in every 5000 live male births. DMD cardiomyopathy universally affects patients as they age into adulthood and is the leading cause of death. This review focuses on diagnosis and treatment of DMD cardiomyopathy with an emphasis on emerging imaging modalities that allow for early diagnosis. These include the expanded use of cardiac magnetic resonance imaging (CMR) and both echocardiographic and CMR myocardial strain measurements. Evidence has accumulated for the use of angiotensin converting enzyme inhibitors (ACEi) or angiotensin receptor blockers (ARB) in the treatment of early myocardial disease in DMD cardiomyopathy while newer medications with different therapeutic targets are under development. Appropriate surveillance with echocardiography and CMR and early initiation of treatment are becoming standard of care to prevent the progressive fibrosis and dysfunction that is characteristic of DMD cardiomyopathy and improve the quality and duration of life in DMD.