Evidence map›Paper›PMID 41778605›Full record

Observational studyJournal of the American Heart Association2026

Prothrombin G20210A and Factor V Leiden Variants Are Not Associated With Thrombotic Events in Congenital Heart Disease: An Observational Trial.

Feria A Ladha, Christina VanderPluym, Enrique Mondragon-Estrada, Paul Avillach, Martina Brueckner, Wendy K Chung, James F Cnota, Bruce D Gelb, Matthew Lewis, Cong Liu and 7 more

Registry-linked trialAbstract readObservational StudyMulticenter Study
In one paragraph

Observational study in Journal of the American Heart Association, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03347214 (dbGaP Protocol), which is not on this map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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.

NCT03347214 completednot on this map

dbGaP Protocol: The Pediatric Cardiac Genetics Consortium (PCGC)

TypeobservationalSponsorNational Heart, Lung, and Blood Institute (NHLBI)Ran2017 to 2020Enrolled6,260ConditionsCongenital Heart Disease
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

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

17 authors.

Feria A LadhaDepartment of Pediatrics Boston Children's Hospital Boston MA.
Christina VanderPluymDepartment of Cardiology Boston Children's Hospital Boston MA.
Enrique Mondragon-EstradaDivision of Newborn Medicine, Department of Pediatrics Boston Children's Hospital Boston MA.ORCID 0009-0004-5592-1728
Paul AvillachComputational Health Informatics Program Boston Children's Hospital Boston MA.ORCID 0000-0002-0235-7543
Martina BruecknerDepartment of Genetics and Pediatrics Yale University School of Medicine New Haven CT.
Wendy K ChungDepartment of Pediatrics Boston Children's Hospital Boston MA.ORCID 0000-0003-3438-5685
James F CnotaHeart Institute, Cincinnati Children's Hospital Medical Center Cincinnati OH.ORCID 0000-0001-6732-8949
Bruce D GelbMindich Child Health and Development Institute and Department of Pediatrics, Icahn School of Medicine at Mount Sinai New York NY.ORCID 0000-0001-8527-5027
Matthew LewisDivision of Cardiology, Department of Medicine Columbia University New York NY.ORCID 0000-0002-8991-0638
Cong LiuDivision of Genetics and Genomics, Department of Pediatrics Boston Children's Hospital Boston MA.ORCID 0000-0001-6024-3037
Amy E RobertsDepartment of Pediatrics Boston Children's Hospital Boston MA.ORCID 0000-0001-5827-8521
Christine E SeidmanDivision of Genetics, Department of Pediatrics Boston Children's Hospital Boston MA.ORCID 0000-0001-6380-1209
Martin Tristani-FirouziDivision of Pediatric Cardiology University of Utah School of Medicine Salt Lake City UT.ORCID 0000-0001-5916-442X
Michael WagnerDivisions of Biomedical Informatics and of Biostatistics and Epidemiology Cincinnati Children's Hospital Medical Center Cincinnati OH.ORCID 0000-0003-3421-4763
Sarah U Morton *Division of Newborn Medicine, Department of Pediatrics Boston Children's Hospital Boston MA.ORCID 0000-0002-7816-2646
Jane W Newburger *Department of Cardiology Boston Children's Hospital Boston MA.ORCID 0000-0002-7794-9017
Pediatric Cardiac Genomics Consortium Investigators

Funding

Integration of RNA and Genome Sequences to Identify Genetic Risk in Hypoplastic Left Heart SyndromeK08HL157653 · NHLBI · BOSTON CHILDREN'S HOSPITAL · PI Sarah Uhler Morton · 2022 to 2026
$840k
NHLBI NIH HHS K08 HL157653
6 · The paper itself

Abstract

backgroundThrombotic events, including acute ischemic stroke, are more common in individuals with congenital heart disease (CHD). Whether common thrombophilia variants contribute to thrombotic risk in this population remains unclear. We evaluated whether prothrombin G20210A (

methodsParticipants in the Pediatric Cardiac Genomics Consortium with exome sequencing and electronic medical record data were identified. Individuals were stratified by prothrombin G20210A and factor V Leiden genotypes, ventricular physiology, and antithrombotic therapy. The primary outcome was the presence of

resultsAmong 4008 participants (median age, 11.4 [interquartile range, 5.1-17.9] years; 44.4% boys), thrombotic events occurred in 737 (18%), including 93 (13%) with acute ischemic stroke. Compared with the Genome Aggregation Database, the CHD cohort had a lower prevalence of heterozygous prothrombin G20210A and factor V Leiden variants. Variant prevalence did not differ between participants with and without thrombotic events. Single-ventricle CHD was associated with higher thrombosis frequency than biventricular CHD (35% versus 16%,

conclusionsIn this multicenter CHD cohort, prothrombin G20210A and factor V Leiden were not significantly associated with thrombotic outcomes, supporting recommendations against routine screening. Given low variant prevalence, the study was powered to exclude only large associations. Reduced variant frequency suggests survivorship bias beginning in fetal life. Larger integrated clinical-genomic studies are needed to refine thrombotic risk stratification in CHD. REGISTRATION: URL: https://www.clinicaltrials.gov; Unique Identifier: NCT03347214.

Indexed as

Factor VHeart Defects, CongenitalIschemic StrokeProthrombinThrombosisAdolescentChildChild, PreschoolFemaleGenetic Predisposition to DiseaseHumansMaleRisk FactorsFactor Vfactor V LeidenProthrombincongenital heart diseasefactor V Leidenstrokethrombophiliathrombosis

Identifiers

PMID41778605
PMCPMC13055685

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Registered trials

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.