Arrhythmogenic right ventricular cardiomyopathy in a Japanese patient with a homozygous founder variant of DSG2 in the East Asian population

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a hereditary cardiomyopathy that results in fatal arrhythmias and heart failure. Herein, we report a Japanese patient with ARVC whose parents were blood relatives. Genetic testing identified a homozygous rare variant, c.1592T > G (p.Phe531...

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Autores principales: Murakami, Haruka, Tanimoto, Yoko, Tanimoto, Kojiro, Inoue, Satomi, Ishikawa, Taisuke, Makita, Naomasa, Yamazawa, Kazuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9360431/
https://www.ncbi.nlm.nih.gov/pubmed/35941102
http://dx.doi.org/10.1038/s41439-022-00206-9
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author Murakami, Haruka
Tanimoto, Yoko
Tanimoto, Kojiro
Inoue, Satomi
Ishikawa, Taisuke
Makita, Naomasa
Yamazawa, Kazuki
author_facet Murakami, Haruka
Tanimoto, Yoko
Tanimoto, Kojiro
Inoue, Satomi
Ishikawa, Taisuke
Makita, Naomasa
Yamazawa, Kazuki
author_sort Murakami, Haruka
collection PubMed
description Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a hereditary cardiomyopathy that results in fatal arrhythmias and heart failure. Herein, we report a Japanese patient with ARVC whose parents were blood relatives. Genetic testing identified a homozygous rare variant, c.1592T > G (p.Phe531Cys), of DSG2 that is presumed to be a founder variant among East Asians. Genetic counseling sessions with precise risk assessment and appropriate follow-up programs were provided to the patient and family members.
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spelling pubmed-93604312022-08-10 Arrhythmogenic right ventricular cardiomyopathy in a Japanese patient with a homozygous founder variant of DSG2 in the East Asian population Murakami, Haruka Tanimoto, Yoko Tanimoto, Kojiro Inoue, Satomi Ishikawa, Taisuke Makita, Naomasa Yamazawa, Kazuki Hum Genome Var Data Report Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a hereditary cardiomyopathy that results in fatal arrhythmias and heart failure. Herein, we report a Japanese patient with ARVC whose parents were blood relatives. Genetic testing identified a homozygous rare variant, c.1592T > G (p.Phe531Cys), of DSG2 that is presumed to be a founder variant among East Asians. Genetic counseling sessions with precise risk assessment and appropriate follow-up programs were provided to the patient and family members. Nature Publishing Group UK 2022-08-08 /pmc/articles/PMC9360431/ /pubmed/35941102 http://dx.doi.org/10.1038/s41439-022-00206-9 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Data Report
Murakami, Haruka
Tanimoto, Yoko
Tanimoto, Kojiro
Inoue, Satomi
Ishikawa, Taisuke
Makita, Naomasa
Yamazawa, Kazuki
Arrhythmogenic right ventricular cardiomyopathy in a Japanese patient with a homozygous founder variant of DSG2 in the East Asian population
title Arrhythmogenic right ventricular cardiomyopathy in a Japanese patient with a homozygous founder variant of DSG2 in the East Asian population
title_full Arrhythmogenic right ventricular cardiomyopathy in a Japanese patient with a homozygous founder variant of DSG2 in the East Asian population
title_fullStr Arrhythmogenic right ventricular cardiomyopathy in a Japanese patient with a homozygous founder variant of DSG2 in the East Asian population
title_full_unstemmed Arrhythmogenic right ventricular cardiomyopathy in a Japanese patient with a homozygous founder variant of DSG2 in the East Asian population
title_short Arrhythmogenic right ventricular cardiomyopathy in a Japanese patient with a homozygous founder variant of DSG2 in the East Asian population
title_sort arrhythmogenic right ventricular cardiomyopathy in a japanese patient with a homozygous founder variant of dsg2 in the east asian population
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9360431/
https://www.ncbi.nlm.nih.gov/pubmed/35941102
http://dx.doi.org/10.1038/s41439-022-00206-9
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