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Genetically Based Atrial Fibrillation: Current Considerations for Diagnosis and Management
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  • Anthony V. Pensa,
  • Jayson R. Baman,
  • Megan J. Puckelwartz,
  • Jane Wilcox
Anthony V. Pensa
Northwestern University Department of Medicine

Corresponding Author:[email protected]

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Jayson R. Baman
Northwestern University Division of Cardiology
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Megan J. Puckelwartz
Northwestern University Feinberg School of Medicine Department of Pharmacology
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Jane Wilcox
Northwestern University Division of Cardiology
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Atrial fibrillation (AF) is the most common atrial arrhythmia and is subcategorized into numerous clinical phenotypes. Given its heterogeneity, investigations into the genetic mechanisms underlying AF have been pursued in recent decades, with predominant analyses focusing on early onset or lone AF. Linkage analyses, genome wide association studies (GWAS), and single gene analyses have led to the identification of rare and common genetic variants associated with AF risk. Significant overlap with genetic variants implicated in dilated cardiomyopathy syndromes, including truncating variants of the sarcomere protein titin, have been identified through these analyses, in addition to other genes associated with cardiac structure and function. Despite this, widespread utilization of genetic testing in AF remains hindered by the unclear impact of genetic risk identification on clinical outcomes and the high prevalence of variants of unknown significance (VUS). However, genetic testing is a reasonable option for patients with early onset AF and in those with significant family history of arrhythmia. While many knowledge gaps remain, emerging data support genotyping to inform selection of AF therapeutics. In this review we highlight the current understanding of the complex genetic basis of AF and explore the overlap of AF with inherited cardiomyopathy syndromes. We propose a set of criteria for clinical genetic testing in AF patients and outline future steps for the integration of genetics into AF care.
10 Jan 2022Submission Checks Completed
10 Jan 2022Assigned to Editor
10 Jan 2022Reviewer(s) Assigned
02 Feb 2022Review(s) Completed, Editorial Evaluation Pending
02 Feb 2022Editorial Decision: Revise Minor
01 Mar 20221st Revision Received
03 Mar 2022Submission Checks Completed
03 Mar 2022Assigned to Editor
03 Mar 2022Reviewer(s) Assigned
03 Mar 2022Review(s) Completed, Editorial Evaluation Pending
04 Mar 2022Editorial Decision: Accept
19 Mar 2022Published in Journal of Cardiovascular Electrophysiology. 10.1111/jce.15446