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

Sci Rep. 2020 Jun 22;10(1):10039. doi: 10.1038/s41598-020-66671-w.

Abstract

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 < 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. Using state-of-the-art CMR, we found that early-onset AF patients, irrespective of TTNtv carrier status, had reduced LVEF, indicating that early-onset AF might not be as benign as previously thought.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset
  • Atrial Fibrillation / diagnostic imaging*
  • Atrial Fibrillation / genetics
  • Atrial Fibrillation / pathology
  • Atrial Fibrillation / physiopathology*
  • Case-Control Studies
  • Connectin / genetics*
  • Contrast Media / administration & dosage
  • Female
  • Fibrosis
  • Gadolinium / administration & dosage
  • Humans
  • Magnetic Resonance Imaging, Cine
  • Male
  • Mutation*
  • Radiographic Image Interpretation, Computer-Assisted
  • Ventricular Function, Left
  • Young Adult

Substances

  • Connectin
  • Contrast Media
  • TTN protein, human
  • Gadolinium