Evidence map›Paper›PMID 40646242›Full record

ArticleEuropean journal of human genetics : EJHG2025

Implications of monogenic bicuspid aortic valve (BAV) forms among sporadic BAV patients.

Christopher M H Bruenger, Frank Oeffner, Laura L Koebbe, Sebastian Zimmer, Verena Veulemans, Matti Adam, Jessica Bigge, Stefanie Heilmann-Heimbach, Malte Kelm, Stephan Baldus and 5 more

Abstract read
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In one paragraph

Article in European journal of human genetics : EJHG, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

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

1 citing paper in PubMed.

  1. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors.

Christopher M H BruengerInstitute of Human Genetics, Philipps University of Marburg, Marburg, Germany.ORCID 0000-0002-4182-7157
Frank OeffnerInstitute of Human Genetics, Philipps University of Marburg, Marburg, Germany.
Laura L KoebbeInstitute of Human Genetics, Philipps University of Marburg, Marburg, Germany.ORCID 0000-0001-9962-0741
Sebastian ZimmerDepartment of Medicine II, Heart Center Bonn, University of Bonn and University Hospital Bonn, Bonn, Germany.
Verena VeulemansDepartment of Cardiology, Pneumology and Angiology, University Hospital Duesseldorf, Duesseldorf, Germany.
Matti AdamDepartment of Medicine III, Heart Center Cologne, University Hospital Cologne, Cologne, Germany.
Jessica BiggeInstitute of Human Genetics, Philipps University of Marburg, Marburg, Germany.
Stefanie Heilmann-HeimbachInstitute of Human Genetics, University of Bonn and University Hospital Bonn, Bonn, Germany.ORCID 0000-0003-1057-465X
Malte KelmDepartment of Cardiology, Pneumology and Angiology, University Hospital Duesseldorf, Duesseldorf, Germany.
Stephan BaldusDepartment of Medicine III, Heart Center Cologne, University Hospital Cologne, Cologne, Germany.
Markus M NöthenInstitute of Human Genetics, University of Bonn and University Hospital Bonn, Bonn, Germany.
Georg NickenigDepartment of Medicine II, Heart Center Bonn, University of Bonn and University Hospital Bonn, Bonn, Germany.
Carlo MajInstitute of Human Genetics, Philipps University of Marburg, Marburg, Germany.
Baravan Al-Kassou *Department of Medicine II, Heart Center Bonn, University of Bonn and University Hospital Bonn, Bonn, Germany.
Johannes Schumacher *Institute of Human Genetics, Philipps University of Marburg, Marburg, Germany. johannes.schumacher@uni-marburg.de.ORCID 0000-0001-9217-6457

Funding

Deutsche Forschungsgemeinschaft (German Research Foundation) TRR259
6 · The paper itself

Abstract

Bicuspid aortic valve (BAV) represents the most common congenital heart defect and is genetically heterogeneous. While the majority of cases results from common risk variants that confer disease cumulatively, a small proportion of BAV cases has a monogenic etiology where penetrant rare variants (RVs) in single genes are disease causing. We assessed the proportion of monogenic BAV cases in 740 non-syndromic and non-familial BAV patients that should be representative for cardiovascular centers of maximum care. We used next generation sequencing- (NGS-) based single-molecule molecular inversion probes (smMIPs) and analyzed all monogenic BAV genes that have been identified so far (NOTCH1, SMAD6, ROBO4, GATA4, GATA6, and ADAMTS19). In these genes, we identified potential damaging RVs in 2% of our patients, which were not significantly enriched compared to 726 population-based controls. We conclude that the contribution of monogenic BAV forms is only small among non-syndromic and sporadic BAV patients.

Indexed as

Aortic ValveHeart Valve DiseasesAdultBicuspid Aortic Valve DiseaseFemaleHumansMaleMiddle Aged

Identifiers

PMID40646242
PMCPMC12402177

What OpenQuestion holds

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Registered trials

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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.