Genetics of atrial cardiomyopathy

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.

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.

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.