ArticleJournal of the American Heart Association2026
Truncating Variants in
Article in Journal of the American Heart Association, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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13 authors.
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Abstract
backgroundTruncating 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.
methodsThis 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 <50% (TTNtv+/DCM+) were compared with matched patients with idiopathic, variant-negative DCM (iDCM).
resultsAmong 460 participants, 153 carried a TTNtv (87 with LVEF ≥50%, 66 with LVEF <50%). All LA strain parameters were significantly lower in TTNtv+/DCM- than in controls (
conclusionsLA myopathy, detected by strain imaging, appears early in TTNtv+/DCM- individuals and may represent an early phenotypic marker independent of left ventricular systolic dysfunction. When LVEF declines below 50%, atrial dysfunction worsens in parallel. AF was more frequent in TTNtv carriers, supporting further research on LA strain for AF risk stratification within this population.
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