Cooperative international neuromuscular research group duchenne natural history study demonstrates insufficient diagnosis and treatment of cardiomyopathy in duchenne muscular dystrophy


  • This project was funded through grants from the U.S. Department of Education/NIDRR (#H133B031118, #H133B090001), the NIH/NINDS Paul D. Wellstone Muscular Dystrophy Research Centers (U54HD053177), the U.S. Department of Defense (#W81XWH-09-1-0592) and NIH/NCRR (#UL1RR031988).

  • Disclosure: The authors take full responsibility for the contents of this paper, which do not represent the views of the Department of Veterans Affairs or the United States Government.


Introduction: Cardiomyopathy is a common cause of morbidity and death in patients with Duchenne muscular dystrophy (DMD). Methods: This investigation was a cross-sectional cross-sectional analysis of clinical data from the multi-institutional Cooperative International Neuromuscular Research Group (CINRG) DMD Natural History Study of 340 DMD patients aged 2–28 years. Cardiomyopathy was defined as shortening fraction (SF) <28% or ejection fraction (EF) <55%. Results: Two hundred thirty-one participants reported a prior clinical echocardiogram study, and 174 had data for SF or EF. The prevalence of cardiomyopathy was 27% (47 of 174), and it was associated significantly with age and clinical stage. The association of cardiomyopathy with age and clinical stage was not changed by glucocorticoid use as a covariate (P > 0.68). In patients with cardiomyopathy, 57% (27 of 47) reported not taking any cardiac medications. Cardiac medications were used in 12% (15 of 127) of patients without cardiomyopathy. Conclusions: We found that echocardiograms were underutilized, and cardiomyopathy was undertreated in this DMD natural history cohort. Muscle Nerve 50:250–256, 2014