Key result
Dystrophic cardiomyopathy affects over 95% of adult DMD patients, with novel therapies like phosphorodiamidate morpholino oligomers (PMOs) showing promise in preclinical and clinical studies.
This review highlights the pathogenesis of dystrophic cardiomyopathy in DMD and the potential of novel therapies like PMOs to address the underlying genetic defect.
High prevalence warrants routine cardiac monitoring in adult DMD; leaves open PMO efficacy in larger randomized trials.
gene and results in progressive wasting of skeletal and cardiac muscle due to an absence of functional dystrophin. Cardiomyopathy is prominent in DMD patients, and contributes significantly to mortality. This is particularly true following respiratory interventions that reduce death rate and increase ambulation and consequently cardiac load. Cardiomyopathy shows an increasing prevalence with age and disease progression, and over 95% of patients exhibit dilated cardiomyopathy by the time they reach adulthood. Development of the myopathy is complex, and elevations in intracellular calcium, functional muscle ischemia, and mitochondrial dysfunction characterise the pathophysiology. Current therapies are limited to treating symptoms of the disease and there is therefore an urgent need to treat the underlying genetic defect. Several novel therapies are outlined here, and the unprecedented success of phosphorodiamidate morpholino oligomers (PMOs) in preclinical and clinical studies is overviewed.
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Johnstone et al. (2017) conducted a review in Dystrophic Cardiomyopathy / Duchenne Muscular Dystrophy. Phosphorodiamidate morpholino oligomers (PMOs) was evaluated. Dystrophic cardiomyopathy affects over 95% of adult DMD patients, with novel therapies like phosphorodiamidate morpholino oligomers (PMOs) showing promise in preclinical and clinical studies.
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