Prevalence of deleterious variants in cardiomyopathy genes in early-onset atrial fibrillation

Atrial fibrillation (AF) is a common cardiac arrhythmia associated with an increased risk of stroke, heart failure, and death. Recent studies suggest that early-onset AF increases the risk of developing heart failure and dilated cardiomyopathy. This study aims to identify genetic variants in a large set of cardiomyopathy genes among early-onset AF individuals. We conducted targeted sequencing of 29 cardiomyopathy-associated genes in 478 individuals from a Danish cohort with early AF onset. Additionally, we analyzed whole exome sequencing data from 374,289 individuals from the UK Biobank, including 29,108 individuals with AF. 8.8% of the Danish individuals with early-onset AF carry truncating variants in cardiomyopathy-associated genes. The prevalence of truncating variants in the UK Biobank analysis ranges from 3.8% in the group with early AF onset to 1.4% in the group without AF diagnosis. This suggests that genetic testing for cardiomyopathy could be relevant in selected individuals with early AF diagnosis.