A Parallel Need for Cardiovascular Care for Female Carriers of Duchenne and Becker Muscular Dystrophy

Novel Insights Into DMD-Associated Dilated Cardiomyopathy

“…However, females with dystrophinopathy, who carry one affected X-chromosome, can develop cardiomyopathy and arrhythmias consistent with dystrophic cardiomyopathy, albeit typically later in life than males. 13 In the 5 families with P/LP DMD variants, the authors identified seven genotype-positive females, of whom 3 had isolated cardiac involvement, one of whom with onset in the peripartum period. While carrier studies are limited, DCM has been estimated to occur in 7% to 16% of female DMD carriers, 14 with some progressing to end-stage heart failure requiring heart transplantation.…”