Key result
Becker muscular dystrophy carrier status can trigger rapidly progressive dilated cardiomyopathy requiring LVAD support.
Why the study?
The prevalence of female Becker muscular dystrophy carriers is underestimated and disease progression varies, with some developing cardiac dysfunction without skeletal muscle symptoms.
Case Report (n=1)
This case highlights that rapidly progressive cardiomyopathy can be the sole manifestation in female Becker muscular dystrophy carriers, suggesting a role for genetic testing in female DCM patients.
Answers are grounded in this paper and cite their sources.
May warrant BMD carrier testing in young women with unexplained DCM; leaves open whether screening improves outcomes.
Becker muscular dystrophy (BMD) carriers are at risk to developing cardiac dysfunction. The prevalence of female BMD carriers remains underestimated, and the disease progression varies. We herein report the case of a young female BMD carrier who developed dilated cardiomyopathy (DCM) and heart failure without any skeletal muscle signs. Her cardiac dysfunction progressed over a mere two months, resulting in the need for left ventricular assist device implantation. Her case demonstrates that progressive cardiomyopathy can be the only clinical manifestation in some BMD carriers, suggesting the need for a more aggressive implementation of genetic testing in female DCM patients.
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Komoriyama et al. (2019) conducted a case report in Becker muscular dystrophy carrier with dilated cardiomyopathy (n=1). Becker muscular dystrophy carrier status was evaluated. A 29-year-old female carrier of Becker muscular dystrophy developed rapidly progressive dilated cardiomyopathy requiring left ventricular assist device implantation within two months, despite having no skeletal muscle symptoms.
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