Key result
Dilated cardiomyopathy in DMD mutation carriers without severe skeletal myopathy was associated with a 22% rate of major adverse cardiac events, compared to no events in those without DCM.
Why the study?
Dilated cardiomyopathy associated with DMD mutations in individuals with mild or absent skeletal myopathy is often indistinguishable from other DCM forms, prompting an evaluation of its phenotype and prognosis.
Cohort (n=223)
Yes
Answers are grounded in this paper and cite their sources.
DMD-associated dilated cardiomyopathy without severe skeletal myopathy carries a high risk of major adverse cardiac events, including end-stage heart failure and sudden cardiac death, once the cardiomyopathy phenotype develops.
AIMS: Dilated cardiomyopathy (DCM) associated with dystrophin gene (DMD) mutations in individuals with mild or absent skeletal myopathy is often indistinguishable from other DCM forms. We sought to describe the phenotype and prognosis of DMD associated DCM in DMD mutation carriers without severe skeletal myopathy. METHODS AND RESULTS: At 26 European centres, we retrospectively collected clinical characteristics and outcomes of 223 DMD mutation carriers (83% male, 33 ± 15 years). A total of 112 individuals (52%) had DCM at first evaluation [n = 85; left ventricular ejection fraction (LVEF) 34 ± 11.2%] or developed DCM (n = 27; LVEF 41.3 ± 7.5%) after a median follow-up of 96 months (interquartile range 5-311 months). DCM penetrance was 45% in carriers older than 40 years. DCM appeared earlier in males and was independent of the type of mutation, presence of skeletal myopathy, or elevated serum creatine kinase levels. Major adverse cardiac events (MACE) occurred in 22% individuals with DCM, 18% developed end-stage heart failure and 9% sudden cardiac death or equivalent. Skeletal myopathy was not associated with survival free of MACE in patients with DCM. Decreased LVEF and increased left ventricular end-diastolic diameter at baseline were associated with MACE. Individuals without DCM had favourable prognosis without MACE or death during follow-up. CONCLUSIONS: DMD-associated DCM without severe skeletal myopathy is characterized by incomplete penetrance but high risk of MACE, including progression to end-stage heart failure and ventricular arrhythmias. DCM onset is the major determinant of prognosis with similar survival regardless of the presence of skeletal myopathy.
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Restrepo-Córdoba et al. (2021) conducted a cohort in Dystrophin-associated dilated cardiomyopathy without severe skeletal myopathy (n=223). Dilated cardiomyopathy (DCM) vs. No DCM was evaluated on Major adverse cardiac events (MACE). Dilated cardiomyopathy in DMD mutation carriers without severe skeletal myopathy was associated with a 22% rate of major adverse cardiac events, compared to no events in those without DCM.
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