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Editor's Note
May 5, 2021

Genetic Studies of Atrial Fibrillation in Diverse Cohorts and Identification of Diverse Phenotypes Associated With Single Genes

Author Affiliations
  • 1Department of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois
  • 2Division of Cardiology, Department of Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois
  • 3Web Editor, JAMA Cardiology
  • 4Center for Genetic Medicine, Bluhm Cardiovascular Institute, Northwestern University School of Medicine, Chicago, Illinois
  • 5Associate Editor for Translational Science, JAMA Cardiology
JAMA Cardiol. 2021;6(7):820. doi:10.1001/jamacardio.2021.1004

Premature truncations in the TTN gene, referred to as TTNtv, disrupt titin and are present in 15% to 20% of patients with dilated cardiomyopathy, where the disruptions have been most extensively studied. In addition, TTNtv are found in peripartum, chemotherapy-induced, and alcohol-associated cardiomyopathy, suggesting gene-environment interactions promote the onset of heart failure (HF). Atrial fibrillation (AF) and HF are interrelated; the presence of AF can trigger HF onset and vice versa, with newer data supporting shared genetic substrates for both AF and HF. Supporting this shared abnormality, TTNtv were recently identified in early-onset AF (occurring in individuals aged ≤66 years).1 This study examined AF in a European ancestry cohort in which AF is more common.

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