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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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description 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 
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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 &lt; 0.001). We obtained similar findings in early-onset AF patients without TTNtv compared with controls (61 ± 4 vs 64 ± 5%, P = 0.02). We furthermore found a statistically significant increase in LA LGE when comparing early-onset AF TTNtv cases with controls. 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subjects 631/208/2489/144
692/4019/592/2727
692/4019/592/75
Adult
Age
Age of Onset
Atrial Fibrillation - diagnostic imaging
Atrial Fibrillation - genetics
Atrial Fibrillation - pathology
Atrial Fibrillation - physiopathology
Cardiac arrhythmia
Cardiovascular diseases
Case-Control Studies
Connectin
Connectin - genetics
Contrast Media - administration & dosage
Coronary artery disease
Ejection fraction
Female
Fibrillation
Fibrosis
Gadolinium
Gadolinium - administration & dosage
Heart diseases
Humanities and Social Sciences
Humans
Magnetic Resonance Imaging, Cine
Male
multidisciplinary
Mutation
Radiographic Image Interpretation, Computer-Assisted
Science
Science (multidisciplinary)
Statistical analysis
Structure-function relationships
Ventricle
Ventricular Function, Left
Young Adult
title Early-onset atrial fibrillation patients show reduced left ventricular ejection fraction and increased atrial fibrosis
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