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:	Takanobu Yamada, Seitaro Nomura
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	cardiomyopathy hypertrophic cardiomyopathy (HCM) dilated cardiomyopathy (DCM) genetics genotype–phenotype correlations pathogenesis Biology (General) QH301-705.5 Chemistry QD1-999
Acceso en línea:	https://doaj.org/article/3b74b5bdef0a45d0b8225f0ebf51d4a0
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spelling	oai:doaj.org-article:3b74b5bdef0a45d0b8225f0ebf51d4a02021-11-25T17:57:28ZRecent Findings Related to Cardiomyopathy and Genetics10.3390/ijms2222125221422-00671661-6596https://doaj.org/article/3b74b5bdef0a45d0b8225f0ebf51d4a02021-11-01T00:00:00Zhttps://www.mdpi.com/1422-0067/22/22/12522https://doaj.org/toc/1661-6596https://doaj.org/toc/1422-0067With 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.Takanobu YamadaSeitaro NomuraMDPI AGarticlecardiomyopathyhypertrophic cardiomyopathy (HCM)dilated cardiomyopathy (DCM)geneticsgenotype–phenotype correlationspathogenesisBiology (General)QH301-705.5ChemistryQD1-999ENInternational Journal of Molecular Sciences, Vol 22, Iss 12522, p 12522 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	cardiomyopathy hypertrophic cardiomyopathy (HCM) dilated cardiomyopathy (DCM) genetics genotype–phenotype correlations pathogenesis Biology (General) QH301-705.5 Chemistry QD1-999
spellingShingle	cardiomyopathy hypertrophic cardiomyopathy (HCM) dilated cardiomyopathy (DCM) genetics genotype–phenotype correlations pathogenesis Biology (General) QH301-705.5 Chemistry QD1-999 Takanobu Yamada Seitaro Nomura Recent Findings Related to Cardiomyopathy and Genetics
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.
format	article
author	Takanobu Yamada Seitaro Nomura
author_facet	Takanobu Yamada Seitaro Nomura
author_sort	Takanobu Yamada
title	Recent Findings Related to Cardiomyopathy and Genetics
title_short	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_sort	recent findings related to cardiomyopathy and genetics
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/3b74b5bdef0a45d0b8225f0ebf51d4a0
work_keys_str_mv	AT takanobuyamada recentfindingsrelatedtocardiomyopathyandgenetics AT seitaronomura recentfindingsrelatedtocardiomyopathyandgenetics
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Recent Findings Related to Cardiomyopathy and Genetics

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