Evidence map›Paper›PMID 41333409›Full record

ArticleResearch square2025

Prevalence of deleterious variants in cardiomyopathy genes in early-onset atrial fibrillation.

Pia Lundegaard, Oliver Vad, Quim Vilaseca, Astrid Beyer, Christian Paludan-Müller, Laura Andreasen, Jesper Svendsen

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In one paragraph

Article in Research square, 2025. 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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0citing papers in PubMed
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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

7 authors.

Pia LundegaardUniversity of Copenhagen.ORCID https://orcid.org/0000-0002-8284-1844
Oliver VadRigshospitalet - Copenhagen University Hospital.
Quim VilasecaRigshospitalet - Copenhagen University Hospital.
Astrid BeyerRigshospitalet - Copenhagen University Hospital.
Christian Paludan-MüllerRigshospitalet - Copenhagen University Hospital.ORCID 0000-0002-7724-544X
Laura AndreasenDepartment of Cardiology, Copenhagen University Hospital Rigshospitalet.
Jesper SvendsenDepartment of Cardiology, Copenhagen University Hospital Rigshospitalet.ORCID 0000-0001-8466-8515

Funding

IDENTIFICATION OF COMMON GENETIC VARIANTS FOR ATRIAL FIBRILLATION AND PR INTERVALR01HL092577 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI BENJAMIN, EMELIA J., ELLINOR, PATRICK THOMAS · 2009 to 2025
$20.6M
NHLBI NIH HHS R01 HL092577
6 · The paper itself

Abstract

Atrial fibrillation (AF) is a common cardiac arrhythmia associated with an increased risk of stroke, heart failure, and death. Recent studies suggest that early-onset AF increases the risk of developing heart failure and dilated cardiomyopathy. This study aims to identify genetic variants in a large set of cardiomyopathy genes among early-onset AF individuals. We conducted targeted sequencing of 29 cardiomyopathy-associated genes in 478 individuals from a Danish cohort with early AF onset. Additionally, we analyzed whole exome sequencing data from 374,289 individuals from the UK Biobank, including 29,108 individuals with AF. 8.8% of the Danish individuals with early-onset AF carry truncating variants in cardiomyopathy-associated genes. The prevalence of truncating variants in the UK Biobank analysis ranges from 3.8% in the group with early AF onset to 1.4% in the group without AF diagnosis. This suggests that genetic testing for cardiomyopathy could be relevant in selected individuals with early AF diagnosis.

Indexed as

Atrial Fibrillation (AF)CardiomyopathyGenetic variants

Identifiers

PMID41333409
PMCPMC12668121

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.