Hor KN, Mah ML, Johnston P, Cripe TP, Cripe LH. Advances in the diagnosis and management of cardiomyopathy in Duchenne muscular dystrophy. Neuromuscular disorders : NMD 2018;28:711-716
A review discussing the current knowledge and practices in the diagnosis, evaluation techniques and treatment of cardiomyopathy. Also the prevalence of cardiomyopathy in heterozygous carriers is addressed.
Patients with Duchenne muscular dystrophy suffer debilitating muscle destruction, resulting in loss of ambulation, diminished respiratory function, gastrointestinal disturbances and cardiomyopathy. Although it is the most common cause of death in these patients, cardiomyopathy is poorly understood in terms of distinct pathogenesis, natural history, and specific, effective therapeutic interventions. We review the state-of-the-art knowledge of Duchenne muscular dystrophy-associated cardiomyopathy including clinical evaluation, imaging, medical and perioperative management, and prospects for gene therapy. We also review cardiomyopathy in heterozygote carriers. By describing our current understanding and best practices, we hope to improve harmonization of care across institutions and identify collective knowledge gaps to guide future research efforts.