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Recent Findings Related to Cardiomyopathy and Genetics

With the development and advancement of next-generation sequencing (NGS), genetic analysis is becoming more accessible. High-throughput genetic studies using NGS have contributed to unraveling the association between cardiomyopathy and genetic background, as is the case with many other diseases. Rar...

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Autores principales: Yamada, Takanobu, Nomura, Seitaro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8623065/
https://www.ncbi.nlm.nih.gov/pubmed/34830403
http://dx.doi.org/10.3390/ijms222212522
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author Yamada, Takanobu
Nomura, Seitaro
author_facet Yamada, Takanobu
Nomura, Seitaro
author_sort Yamada, Takanobu
collection PubMed
description With the development and advancement of next-generation sequencing (NGS), genetic analysis is becoming more accessible. High-throughput genetic studies using NGS have contributed to unraveling the association between cardiomyopathy and genetic background, as is the case with many other diseases. Rare variants have been shown to play major roles in the pathogenesis of cardiomyopathy, which was empirically recognized as a monogenic disease, and it has been elucidated that the clinical course of cardiomyopathy varies depending on the causative genes. These findings were not limited to dilated and hypertrophic cardiomyopathy; similar trends were reported one after another for peripartum cardiomyopathy (PPCM), cancer therapy-related cardiac dysfunction (CTRCD), and alcoholic cardiomyopathy (ACM). In addition, as the association between clinical phenotypes and the causative genes becomes clearer, progress is being made in elucidating the mechanisms and developing novel therapeutic agents. Recently, it has been suggested that not only rare variants but also common variants contribute to the development of cardiomyopathy. Cardiomyopathy and genetics are approaching a new era, which is summarized here in this overview.
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spelling pubmed-86230652021-11-27 Recent Findings Related to Cardiomyopathy and Genetics Yamada, Takanobu Nomura, Seitaro Int J Mol Sci Review With the development and advancement of next-generation sequencing (NGS), genetic analysis is becoming more accessible. High-throughput genetic studies using NGS have contributed to unraveling the association between cardiomyopathy and genetic background, as is the case with many other diseases. Rare variants have been shown to play major roles in the pathogenesis of cardiomyopathy, which was empirically recognized as a monogenic disease, and it has been elucidated that the clinical course of cardiomyopathy varies depending on the causative genes. These findings were not limited to dilated and hypertrophic cardiomyopathy; similar trends were reported one after another for peripartum cardiomyopathy (PPCM), cancer therapy-related cardiac dysfunction (CTRCD), and alcoholic cardiomyopathy (ACM). In addition, as the association between clinical phenotypes and the causative genes becomes clearer, progress is being made in elucidating the mechanisms and developing novel therapeutic agents. Recently, it has been suggested that not only rare variants but also common variants contribute to the development of cardiomyopathy. Cardiomyopathy and genetics are approaching a new era, which is summarized here in this overview. MDPI 2021-11-20 /pmc/articles/PMC8623065/ /pubmed/34830403 http://dx.doi.org/10.3390/ijms222212522 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Yamada, Takanobu
Nomura, Seitaro
Recent Findings Related to Cardiomyopathy and Genetics
title Recent Findings Related to Cardiomyopathy and Genetics
title_full Recent Findings Related to Cardiomyopathy and Genetics
title_fullStr Recent Findings Related to Cardiomyopathy and Genetics
title_full_unstemmed Recent Findings Related to Cardiomyopathy and Genetics
title_short Recent Findings Related to Cardiomyopathy and Genetics
title_sort recent findings related to cardiomyopathy and genetics
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8623065/
https://www.ncbi.nlm.nih.gov/pubmed/34830403
http://dx.doi.org/10.3390/ijms222212522
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