In a journal pre-proof article from Genetics in Medicine, researchers at Helix, the Renown Institute for Health Innovation, the Desert Research Institute, and the University of Reno report on cardiomyopathy rates in individuals who have experienced early atrial fibrillation and carry risky truncating variants in the dilated cardiomyopathy-related gene TTN. With exome sequence and longitudinal electronic health record data for some 450,000 individuals, the team found that individuals carrying a high "percentage of spliced in" index (hiPSI) of TTN truncating variants who developed atrial fibrillation before the age of 60 had a 3.5-fold uptick in cardiomyopathy prevalence compared to individuals with hiPSI alone. The former combination was linked to an overall cardiomyopathy prevalence of 33 percent, the authors report, "far exceeding" the cardiomyopathy prevalence documented in individuals without TTN truncating variants (TTNtvs) or with TTNtvs alone. "These results show that combining phenotypic information along with genomic population screening can identify patients at higher risk for progressing to symptomatic heart failure," they suggest.
Cardiomyopathy Risk Increased in Individuals With Atrial Fibrillation History, TTN Variants
Jan 11, 2023