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Recent Findings Related to Cardiomyopathy and Genetics

International journal of molecular sciences, 2021-11, Vol.22 (22), p.12522 [Peer Reviewed Journal]

2021 by the authors. 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/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2021 by the authors. 2021 ;ISSN: 1422-0067 ;ISSN: 1661-6596 ;EISSN: 1422-0067 ;DOI: 10.3390/ijms222212522 ;PMID: 34830403

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Title:
Recent Findings Related to Cardiomyopathy and Genetics
Author: Yamada, Takanobu ; Nomura, Seitaro
Subjects: Cardiac arrhythmia ; Cardiomyocytes ; Cardiomyopathies - genetics ; Cardiomyopathies - pathology ; Cardiomyopathy ; Cardiomyopathy, Alcoholic - genetics ; Cardiomyopathy, Alcoholic - pathology ; Cardiomyopathy, Dilated - genetics ; Cardiomyopathy, Dilated - pathology ; Cardiomyopathy, Hypertrophic - genetics ; Cardiomyopathy, Hypertrophic - pathology ; Chemical compounds ; dilated cardiomyopathy (DCM) ; Disease ; Ejection fraction ; Genes ; Genetic analysis ; Genetic Testing ; Genetics ; Genotype & phenotype ; genotype–phenotype correlations ; Heart failure ; High-Throughput Nucleotide Sequencing ; Humans ; hypertrophic cardiomyopathy (HCM) ; Mutation ; Next-generation sequencing ; Pathogenesis ; Patients ; Pharmacology ; Phenotype ; Phenotypes ; Proteins ; Review
Is Part Of: International journal of molecular sciences, 2021-11, Vol.22 (22), p.12522
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.
Publisher: Switzerland: MDPI AG
Language: English
Identifier: ISSN: 1422-0067
ISSN: 1661-6596
EISSN: 1422-0067
DOI: 10.3390/ijms222212522
PMID: 34830403
Source: MEDLINE
PubMed Central
ProQuest Central
DOAJ Directory of Open Access Journals

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Recent Findings Related to Cardiomyopathy and Genetics

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