Deep learning of left atrial structure and function provides link to atrial fibrillation risk.
James Paul PirruccelloPaolo Di AchilleSeung Hoan ChoiJoel T RämöShaan KhurshidMahan NekouiSean Joseph JurgensVictor NauffalShinwan Kanynull nullKenney NgSamuel Freesun FriedmanPuneet BatraKathryn L LunettaAarno PalotieAnthony A PhilippakisJennifer E HoSteven A LubitzPatrick T EllinorPublished in: Nature communications (2024)
Increased left atrial volume and decreased left atrial function have long been associated with atrial fibrillation. The availability of large-scale cardiac magnetic resonance imaging data paired with genetic data provides a unique opportunity to assess the genetic contributions to left atrial structure and function, and understand their relationship with risk for atrial fibrillation. Here, we use deep learning and surface reconstruction models to measure left atrial minimum volume, maximum volume, stroke volume, and emptying fraction in 40,558 UK Biobank participants. In a genome-wide association study of 35,049 participants without pre-existing cardiovascular disease, we identify 20 common genetic loci associated with left atrial structure and function. We find that polygenic contributions to increased left atrial volume are associated with atrial fibrillation and its downstream consequences, including stroke. Through Mendelian randomization, we find evidence supporting a causal role for left atrial enlargement and dysfunction on atrial fibrillation risk.
Keyphrases
- left atrial
- atrial fibrillation
- catheter ablation
- oral anticoagulants
- left ventricular
- mitral valve
- deep learning
- left atrial appendage
- direct oral anticoagulants
- magnetic resonance imaging
- cardiovascular disease
- heart failure
- genome wide association study
- genome wide
- percutaneous coronary intervention
- machine learning
- computed tomography
- big data
- type diabetes
- magnetic resonance
- electronic health record
- metabolic syndrome
- copy number
- artificial intelligence
- cardiovascular events
- blood brain barrier
- coronary artery disease