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Rapidly Progressive Heart Failure in a Female Carrier of Becker Muscular Dystrophy with No Skeletal Muscle Symptoms

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 failu...

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Detalles Bibliográficos
Autores principales: Komoriyama, Hirokazu, Fukushima, Arata, Takahashi, Yumi, Kinugawa, Shintaro, Sera, Fusako, Ohtani, Tomohito, Nakamura, Akinori, Sakata, Yasushi, Anzai, Toshihisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6761335/
https://www.ncbi.nlm.nih.gov/pubmed/31118394
http://dx.doi.org/10.2169/internalmedicine.2714-19
Descripción
Sumario: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.