A titin truncating variant linked to atrial fibrillation increases atrial profibrotic signalling and cholinergic sensitivity.

doi:10.1093/cvr/cvag112

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Article

A titin truncating variant linked to atrial fibrillation increases atrial profibrotic signalling and cholinergic sensitivity.

Cardiovascular research - 26 Jun 2026

Cumberland Max J, Dasí Albert, Sontayananon Naeramit, Marcus Alan D, Qin Alex R, Riebel Leto, Euchner Jonas, Azad Amar J, Hall Caitlin, O'Shea Christopher, Smith James G W, Papadopoulou Charikleia, Miska Eric A, Pavlovic Davor, Patrick Ellis, Chong James J H, Kirchhof Paulus, Denning Chris, Davies Benjamin, Rodriguez Blanca, Holmes Andrew P, Gehmlich Katja

Abstract excerpt

AIMS: Titin truncating variants (TTNtv) are a major genetic cause of dilated cardiomyopathy (DCM), accounting for approximately 25% of familial cases. Atrial fibrillation (AF) frequently occurs in DCM patients carrying TTNtv and may precede overt ventricular dysfunction, suggesting an atrial-specific disease mechanism. How TTNtv increase susceptibility to AF, particularly in the absence of established DCM,...

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PMID: 42198882
DOI: 10.1093/cvr/cvag112
PMCID: PMC13307571

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