Enrichment of loss-of-function and copy number variants in ventricular cardiomyopathy genes in 'lone' atrial fibrillation.
Julieta LazarteZachary W LaksmanJian WangJohn F RobinsonJacqueline S DronEmma LeachJanet LiewAdam D McIntyreAllan C SkanesLorne J GulaPeter Leong-SitHenian CaoBrett TrostStephen W SchererRobert A HegeleJason D RobertsPublished in: Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology (2021)
'Lone' AF cases are enriched in rare LOF variants from cardiomyopathy genes, findings primarily driven by TTN, and a novel TTN deletion, providing additional evidence to implicate atrial cardiomyopathy as an AF genetic sub-phenotype. Our results also highlight that AF may develop in the context of these variants in the absence of a discernable ventricular cardiomyopathy.
Keyphrases
- copy number
- atrial fibrillation
- heart failure
- genome wide
- catheter ablation
- mitochondrial dna
- left atrial
- dna methylation
- oral anticoagulants
- left atrial appendage
- direct oral anticoagulants
- left ventricular
- percutaneous coronary intervention
- gene expression
- transcription factor
- coronary artery disease
- mitral valve
- acute coronary syndrome