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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Bibliographic Details
Published in:International journal of molecular sciences 2021-11, Vol.22 (22), p.12522
Main Authors: Yamada, Takanobu, Nomura, Seitaro
Format: Article
Language:English
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
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Summary: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.
ISSN:1422-0067
1661-6596
1422-0067
DOI:10.3390/ijms222212522