Truncating Variants in TTN are Associated With Primary Atrial Myopathy

Journal of the American Heart Association 2026 Open access

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Authors: Daniel de Castro, Diane Fatkin, Enrique Rodriguez‐Rubio, F. Haddad, Fernando Hernández‐Terciado, Anisha Purohit, Shadi P. Bagherzadeh, Priyanka Nair, Aria Foroutan Rad, Vikki A. Krysov, V A Parikh, Pablo García‐Pavía
+1 more Neal K. Lakdawala
DOI: 10.1161/jaha.125.047740
Cited by: 2
References: 25

Abstract

Background Truncating TTN variants (TTNtv) are the main genetic cause of dilated cardiomyopathy (DCM) and are independently associated with atrial fibrillation (AF). In DCM, AF usually arises from left atrial (LA) remodeling attributable to left ventricular systolic dysfunction. Whether TTNtv are linked to primary LA dysfunction independent of left ventricular systolic dysfunction remains unclear. Methods This retrospective, multicenter study evaluated atrial function by strain echocardiography in TTNtv carriers across the left ventricular ejection fraction (LVEF) spectrum and its relationship with AF. Individuals with TTNtv and LVEF ≥50% (TTNtv+/DCM–) were compared with matched healthy controls, and those with LVEF

Fields of Study & Subjects

Cardiomyopathy and Myosin Studies Cardiovascular Effects of Exercise Cardiac Arrhythmias and Treatments

Publication details

Journal / source
Journal of the American Heart Association
Publisher
Ovid Technologies (Wolters Kluwer Health)
Volume
15
Issue
6
Pages
eJAHA2025047740T–eJAHA2025047740T
Publication date
10 March 2026
Language
EN