Drug-refractory Heart Failure in Female Carrier of Duchenne Muscular Dystrophy: A Case of X-linked Dilated Cardiomyopathy

A 56-year-old woman was referred to our hospital for the further evaluation of drug-refractory heart failure with a reduced ejection fraction. A family history interview revealed that men in her family had died of Duchenne muscular dystrophy (DMD), whereas she had no skeletal muscle disorder. Myocar...

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Autores principales: Ohtani, Hayato, Saotome, Masao, Sakamoto, Atsushi, Suwa, Kenichiro, Maekawa, Yuichiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10400384/
https://www.ncbi.nlm.nih.gov/pubmed/36450469
http://dx.doi.org/10.2169/internalmedicine.0745-22
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author Ohtani, Hayato
Saotome, Masao
Sakamoto, Atsushi
Suwa, Kenichiro
Maekawa, Yuichiro
author_facet Ohtani, Hayato
Saotome, Masao
Sakamoto, Atsushi
Suwa, Kenichiro
Maekawa, Yuichiro
author_sort Ohtani, Hayato
collection PubMed
description A 56-year-old woman was referred to our hospital for the further evaluation of drug-refractory heart failure with a reduced ejection fraction. A family history interview revealed that men in her family had died of Duchenne muscular dystrophy (DMD), whereas she had no skeletal muscle disorder. Myocardial histopathology revealed a reduced dystrophin expression in the cardiomyocyte membrane, and a dystrophin (DMD) gene analysis identified a duplication in exon 8-9 on Xp21, suggesting that she had a cardiac-specific phenotype of dystrophinopathy, i.e. X-linked dilated cardiomyopathy (XLDCM). In conclusion, careful family history interviews and an investigation of dystrophinopathy are required to detect XLDCM in women.
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spelling pubmed-104003842023-08-05 Drug-refractory Heart Failure in Female Carrier of Duchenne Muscular Dystrophy: A Case of X-linked Dilated Cardiomyopathy Ohtani, Hayato Saotome, Masao Sakamoto, Atsushi Suwa, Kenichiro Maekawa, Yuichiro Intern Med Case Report A 56-year-old woman was referred to our hospital for the further evaluation of drug-refractory heart failure with a reduced ejection fraction. A family history interview revealed that men in her family had died of Duchenne muscular dystrophy (DMD), whereas she had no skeletal muscle disorder. Myocardial histopathology revealed a reduced dystrophin expression in the cardiomyocyte membrane, and a dystrophin (DMD) gene analysis identified a duplication in exon 8-9 on Xp21, suggesting that she had a cardiac-specific phenotype of dystrophinopathy, i.e. X-linked dilated cardiomyopathy (XLDCM). In conclusion, careful family history interviews and an investigation of dystrophinopathy are required to detect XLDCM in women. The Japanese Society of Internal Medicine 2022-11-30 2023-07-15 /pmc/articles/PMC10400384/ /pubmed/36450469 http://dx.doi.org/10.2169/internalmedicine.0745-22 Text en Copyright © 2023 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
Ohtani, Hayato
Saotome, Masao
Sakamoto, Atsushi
Suwa, Kenichiro
Maekawa, Yuichiro
Drug-refractory Heart Failure in Female Carrier of Duchenne Muscular Dystrophy: A Case of X-linked Dilated Cardiomyopathy
title Drug-refractory Heart Failure in Female Carrier of Duchenne Muscular Dystrophy: A Case of X-linked Dilated Cardiomyopathy
title_full Drug-refractory Heart Failure in Female Carrier of Duchenne Muscular Dystrophy: A Case of X-linked Dilated Cardiomyopathy
title_fullStr Drug-refractory Heart Failure in Female Carrier of Duchenne Muscular Dystrophy: A Case of X-linked Dilated Cardiomyopathy
title_full_unstemmed Drug-refractory Heart Failure in Female Carrier of Duchenne Muscular Dystrophy: A Case of X-linked Dilated Cardiomyopathy
title_short Drug-refractory Heart Failure in Female Carrier of Duchenne Muscular Dystrophy: A Case of X-linked Dilated Cardiomyopathy
title_sort drug-refractory heart failure in female carrier of duchenne muscular dystrophy: a case of x-linked dilated cardiomyopathy
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10400384/
https://www.ncbi.nlm.nih.gov/pubmed/36450469
http://dx.doi.org/10.2169/internalmedicine.0745-22
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