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Early-onset atrial fibrillation patients show reduced left ventricular ejection fraction and increased atrial fibrosis

Atrial fibrillation (AF) has traditionally been considered an electrical heart disease. However, genetic studies have revealed that the structural architecture of the heart also play a significant role. We evaluated the functional and structural consequences of harboring a titin-truncating variant (...

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Published in:Scientific reports 2020-06, Vol.10 (1), p.10039-10039, Article 10039
Main Authors: Andreasen, Laura, Bertelsen, Litten, Ghouse, Jonas, Lundegaard, Pia R., Ahlberg, Gustav, Refsgaard, Lena, Rasmussen, Torsten B., Eiskjær, Hans, Haunsø, Stig, Vejlstrup, Niels, Svendsen, Jesper H., Olesen, Morten S.
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Language:English
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Summary:Atrial fibrillation (AF) has traditionally been considered an electrical heart disease. However, genetic studies have revealed that the structural architecture of the heart also play a significant role. We evaluated the functional and structural consequences of harboring a titin-truncating variant (TTNtv) in AF patients, using cardiac magnetic resonance (CMR). Seventeen early-onset AF cases carrying a TTNtv, were matched 1:1 with non-AF controls and a replication cohort of early-onset AF cases without TTNtv, and underwent CMR. Cardiac volumes and left atrial late gadolinium enhancement (LA LGE), as a fibrosis proxy, were measured by a blinded operator. Results: AF cases with TTNtv had significantly reduced left ventricular ejection fraction (LVEF) compared with controls (57 ± 4 vs 64 ± 5%, P 
ISSN:2045-2322
2045-2322
DOI:10.1038/s41598-020-66671-w