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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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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
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author Komoriyama, Hirokazu
Fukushima, Arata
Takahashi, Yumi
Kinugawa, Shintaro
Sera, Fusako
Ohtani, Tomohito
Nakamura, Akinori
Sakata, Yasushi
Anzai, Toshihisa
author_facet Komoriyama, Hirokazu
Fukushima, Arata
Takahashi, Yumi
Kinugawa, Shintaro
Sera, Fusako
Ohtani, Tomohito
Nakamura, Akinori
Sakata, Yasushi
Anzai, Toshihisa
author_sort Komoriyama, Hirokazu
collection PubMed
description 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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spelling pubmed-67613352019-09-27 Rapidly Progressive Heart Failure in a Female Carrier of Becker Muscular Dystrophy with No Skeletal Muscle Symptoms Komoriyama, Hirokazu Fukushima, Arata Takahashi, Yumi Kinugawa, Shintaro Sera, Fusako Ohtani, Tomohito Nakamura, Akinori Sakata, Yasushi Anzai, Toshihisa Intern Med Case Report 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. The Japanese Society of Internal Medicine 2019-05-22 2019-09-01 /pmc/articles/PMC6761335/ /pubmed/31118394 http://dx.doi.org/10.2169/internalmedicine.2714-19 Text en Copyright © 2019 by The Japanese Society of Internal Medicine https://creativecommons.org/licenses/by-nc-nd/4.0/ The Internal Medicine is an Open Access journal distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Komoriyama, Hirokazu
Fukushima, Arata
Takahashi, Yumi
Kinugawa, Shintaro
Sera, Fusako
Ohtani, Tomohito
Nakamura, Akinori
Sakata, Yasushi
Anzai, Toshihisa
Rapidly Progressive Heart Failure in a Female Carrier of Becker Muscular Dystrophy with No Skeletal Muscle Symptoms
title Rapidly Progressive Heart Failure in a Female Carrier of Becker Muscular Dystrophy with No Skeletal Muscle Symptoms
title_full Rapidly Progressive Heart Failure in a Female Carrier of Becker Muscular Dystrophy with No Skeletal Muscle Symptoms
title_fullStr Rapidly Progressive Heart Failure in a Female Carrier of Becker Muscular Dystrophy with No Skeletal Muscle Symptoms
title_full_unstemmed Rapidly Progressive Heart Failure in a Female Carrier of Becker Muscular Dystrophy with No Skeletal Muscle Symptoms
title_short Rapidly Progressive Heart Failure in a Female Carrier of Becker Muscular Dystrophy with No Skeletal Muscle Symptoms
title_sort rapidly progressive heart failure in a female carrier of becker muscular dystrophy with no skeletal muscle symptoms
topic Case Report
url 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
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