Importance of genetic testing in unexplained cardiac arrest.

ABSTRACT:

Aims

Genetic testing is recommended in specific inherited heart diseases but its role remains unclear and it is not currently recommended in unexplained cardiac arrest (UCA). We sought to assess the yield and clinical utility of genetic testing in UCA using whole-exome sequencing (WES).

Methods and results

Survivors of UCA requiring external defibrillation were included from the Cardiac Arrest Survivor with Preserved Ejection fraction Registry. Whole-exome sequencing was performed, followed by assessment of rare variants in previously reported cardiovascular disease genes. A total of 228 UCA survivors (mean age at arrest 39 ± 13 years) were included. The majority were males (66%) and of European ancestry (81%). Following advanced clinical testing at baseline, the likely aeti

SUBMITTER: Grondin S 

PROVIDER: S-EPMC9392649 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature