ArticleEuropean journal of human genetics : EJHG2023
Genetic testing in monogenic early-onset atrial fibrillation.
Article in European journal of human genetics : EJHG, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.
- Freely available genomic datasets for atrial fibrillation research: current resources and analytical pipeline.Frontiers in genetics · 2026Pooled it
- Perspectives on phenotype in genetic testing for early-onset atrial fibrillation.European journal of human genetics : EJHG · 2026Article
- Discovery ofDiagnostics (Basel, Switzerland) · 2025Article
- Atrial fibrillation in former world-class rowers: role of environmental and genetic factors.European heart journal · 2025Article
- Age-Dependent Contributions of Rare and Common Genetic Variation in Atrial Fibrillation.Circulation. Genomic and precision medicine · 2025Article
- Atrial Cardiomyopathy in Atrial Fibrillation: Mechanistic Pathways and Emerging Treatment Concepts.Journal of clinical medicine · 2025Review
- Catecholaminergic polymorphic ventricular tachycardia and early-onset atrial fibrillation in a tactical athlete with a heterozygous truncating variant inHeartRhythm case reports · 2025Article
- Atrial cardiomyopathy in endurance athletes.NPJ cardiovascular health · 2024Article
- Identification and Functional Investigation ofDiagnostics (Basel, Switzerland) · 2024Article
- Atrial Fibrillation in Elite Athletes: A Comprehensive Review of the Literature.Journal of cardiovascular development and disease · 2024Review
- Genetic testing in early-onset atrial fibrillation.European heart journal · 2024Review
- Genetics and Pharmacogenetics of Atrial Fibrillation: A Mechanistic Perspective.JACC. Basic to translational science · 2024Review
Corrections and comments
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Authors and funding
12 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A substantial proportion of atrial fibrillation (AF) cases cannot be explained by acquired AF risk factors. Limited guidelines exist that support routine genetic testing. We aim to determine the prevalence of likely pathogenic and pathogenic variants from AF genes with robust evidence in a well phenotyped early-onset AF population. We performed whole exome sequencing on 200 early-onset AF patients. Variants from exome sequencing in affected individuals were filtered in a multi-step process, prior to undergoing clinical classification using current ACMG/AMP guidelines. 200 AF individuals were recruited from St. Paul's Hospital and London Health Sciences Centre who were ≤ 60 years of age and without any acquired AF risk factors at the time of AF diagnosis. 94 of these AF individuals had very early-onset AF ( ≤ 45). Mean age of AF onset was 43.6 ± 9.4 years, 167 (83.5%) were male and 58 (29.0%) had a confirmed family history. There was a 3.0% diagnostic yield for identifying a likely pathogenic or pathogenic variant across AF genes with robust gene-to-disease association evidence. This study demonstrates the current diagnostic yield for identifying a monogenic cause for AF in a well-phenotyped early-onset AF cohort. Our findings suggest a potential clinical utility for offering different screening and treatment regimens in AF patients with an underlying monogenic defect. However, further work is needed to dissect the additional monogenic and polygenic determinants for patients without a genetic explanation for their AF despite the presence of specific genetic indicators such as young age of onset and/or positive family history.
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