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Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent.


ABSTRACT: Genetic testing is used to optimise the management of inherited cardiovascular disorders that can cause sudden cardiac death. Yet more genotype-phenotype correlation studies from populations not ascertained on clinical symptoms or family history of disease are required to improve understanding of gene penetrance. We performed targeted sequencing of 25 genes used routinely in clinical genetic testing for inherited cardiovascular disorders in a population of 13,131 asymptomatic older individuals (mean age 75 years) enrolled in the ASPREE trial. Participants had no prior history of cardiovascular disease events, dementia or physical disability at enrolment. Variants were classified following ACMG/AMP standards. Sudden and rapid cardiac deaths were clinically adjudicated as ASPREE trial endpoi

SUBMITTER: Lacaze P 

PROVIDER: S-EPMC8209162 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature

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