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Genetics of atrial cardiomyopathy

Fatkin, Dianea,b,c; Huttner, Inken G.a,b; Johnson, Reneea,b

Current Opinion in Cardiology: May 2019 - Volume 34 - Issue 3 - p 275–281
doi: 10.1097/HCO.0000000000000610
MOLECULAR GENETICS: Edited by Ali J. Marian

Purpose of review Atrial cardiomyopathy is a frequently encountered but underappreciated clinical entity that is characterized by altered atrial size and function. Although traditionally considered a primary atrial disorder, atrial cardiomyopathy was recently redefined to include secondary atrial remodelling. This conceptual shift has implications for the scope of etiological factors and intervention strategies. Our aim was to evaluate the potential contribution of genetics to atrial cardiomyopathy.

Recent findings Although the genetics of atrial cardiomyopathy is relatively unexplored, extensive efforts have been made to identify the genetic underpinnings of atrial fibrillation, which is a common complication of atrial cardiomyopathy. Interestingly, in-silico and functional studies suggest that atrial fibrillation-associated genetic variants mainly act by generating a proarrhythmogenic atrial cardiomyopathic substrate. Investigating the genetic basis of primary defects in atrial structure and function, as well as the genetic contributions to cardiac disorders, comorbidities and lifestyle factors that result in secondary atrial remodelling should expand the spectrum of genetic factors that directly or indirectly cause atrial cardiomyopathy and help to resolve the missing heritability of atrial fibrillation.

Summary Elucidation of the genetic basis of atrial cardiomyopathy may provide new risk markers and facilitate personalized interventions for complications, such as atrial fibrillation, heart failure, and stroke.

aMolecular Cardiology Division, Victor Chang Cardiac Research Institute, Darlinghurst

bFaculty of Medicine, University of New South Wales, Kensington

cDepartment of Cardiology, St Vincent's Hospital, Darlinghurst, New South Wales, Australia

Correspondence to Diane Fatkin, MD, Molecular Cardiology Division, Victor Chang Cardiac Research Institute, 405 Liverpool Street, Darlinghurst, NSW 2010, Australia. Tel: +61 2 9295 8618; fax: +61 2 9295 8770; e-mail:

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