Evidence-Based Assessment of Genes in Dilated Cardiomyopathy.

ABSTRACT:

Background

Each of the cardiomyopathies, classically categorized as hypertrophic cardiomyopathy, dilated cardiomyopathy (DCM), and arrhythmogenic right ventricular cardiomyopathy, has a signature genetic theme. Hypertrophic cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy are largely understood as genetic diseases of sarcomere or desmosome proteins, respectively. In contrast, >250 genes spanning >10 gene ontologies have been implicated in DCM, representing a complex and diverse genetic architecture. To clarify this, a systematic curation of evidence to establish the relationship of genes with DCM was conducted.

Methods

An international panel with clinical and scientific expertise in DCM genetics evaluated evidence supporting monogenic relationships of genes

SUBMITTER: Jordan E 

PROVIDER: S-EPMC8247549 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature