ArticleCirculation. Genomic and precision medicine2020
De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart Disease.
Registry-linked trialOpen access · hybridAbstract read
In one paragraph
Article in Circulation. Genomic and precision medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01196182 (Congenital Heart Disease GEnetic NEtwork Study), which is not on this map. Cited by 34 papers.
0numbers the graph read from it
0cells of the map it votes in
34citing papers in PubMed
4.7field-weighted citation impact, top 4% of its field
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.
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.
Congenital Heart Disease GEnetic NEtwork Study (CHD GENES)
Who cites it
34 citing papers in PubMed, 55 citations in OpenAlex.
- Diagnostic Yield of Exome Sequencing in Patients With Congenital Heart Disease From Southern Africa.Circulation. Genomic and precision medicine · 2026Article
- Diagnostic yield of exome and genome sequencing for critically ill pediatric cardiac patients.Translational pediatrics · 2026Article
- Placental Malperfusion Is Associated With Adverse Outcomes in Congenital Heart Disease and With Genetic Variants in Placental Developmental Pathways.Journal of the American College of Cardiology · 2025Article
- Genome sequencing is critical for forecasting outcomes following congenital cardiac surgery.Nature communications · 2025Observational
- Current and future diagnostics of congenital heart disease (CHD).Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2025Article
- Evaluation of Exome and Genome Sequencing for Critically Ill Pediatric Cardiac Patients.Research square · 2025Article
- The Opportunities and Challenges in the Molecular Mechanism Research of Congenital Heart Disease: A Review.Molecular syndromology · 2025Review
- 2025 Heart Disease and Stroke Statistics: A Report of US and Global Data From the American Heart Association.Circulation · 2025Review
- The molecular mechanisms of cardiac development and related diseases.Signal transduction and targeted therapy · 2024Review
- Early ascertainment of genetic diagnoses clarifies impact on medium-term survival following neonatal congenital heart surgery.The Journal of clinical investigation · 2024Article
- How Will Artificial Intelligence Shape the Future of Decision-Making in Congenital Heart Disease?Journal of clinical medicine · 2024Review
- 2024 Heart Disease and Stroke Statistics: A Report of US and Global Data From the American Heart Association.Circulation · 2024Review
- In-Depth Genomic Analysis: The New Challenge in Congenital Heart Disease.International journal of molecular sciences · 2024Review
- Clinically Relevant Genetic Considerations for Patients With Tetralogy of Fallot.CJC pediatric and congenital heart disease · 2023Review
- A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease.Journal of the American Heart Association · 2023Article
- Practice variations for fetal and neonatal congenital heart disease within the Children's Hospitals Neonatal Consortium.Pediatric research · 2023Article
- Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study.Circulation. Genomic and precision medicine · 2023Article
- Heart Disease and Stroke Statistics-2023 Update: A Report From the American Heart Association.Circulation · 2023Review
- Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease.JAMA network open · 2023Article
- Using novel data linkage of congenital heart disease biobank data with administrative health data to identify cardiovascular outcomes to inform genomic analysis.International journal of population data science · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
33 authors at 18 institutions in 2 countries.
Marko T BoskovskiDepartment of Cardiac Surgery (M.T.B., M.N., J.E.M.), Harvard Medical School, MA.
Jason HomsyDepartment of Genetics (M.T.B., J.H., S.M., A.T., J.G., J.G.S., C.E.S.), Harvard Medical School, MA.
Meena NathanDepartment of Cardiac Surgery (M.T.B., M.N., J.E.M.), Harvard Medical School, MA.
Lynn A SleeperDepartment of Cardiology (M.T.B., L.A.S., A.E.R., J.W.N.), Harvard Medical School, MA.
Sarah MortonDepartment of Newborn Medicine (S.M.), Harvard Medical School, MA.
Kathryn B ManheimerMindich Child Health and Development Institute (K.B.M., B.D.G.), Icahn School of Medicine at Mount Sinai, New York, NY.
Angela TaiDepartment of Genetics (M.T.B., J.H., S.M., A.T., J.G., J.G.S., C.E.S.), Harvard Medical School, MA.
Joshua GorhamDepartment of Genetics (M.T.B., J.H., S.M., A.T., J.G., J.G.S., C.E.S.), Harvard Medical School, MA.
Matthew LewisDepartments of Pediatrics and Medicine (M.L., W.K.C.), New York-Presbyterian Hospital/Columbia University Medical Center.
Michael SwartzDepartment of Cardiac Surgery, University of Rochester, NY (M.S., G.M.A.).
George M AlfierisDepartment of Cardiac Surgery, University of Rochester, NY (M.S., G.M.A.).
Emile A BachaDivision of Cardiac, Thoracic, and Vascular Surgery (E.A.B.), New York-Presbyterian Hospital/Columbia University Medical Center.
Mohsen KarimiDivision of Cardiac Surgery (M.K.), Yale University School of Medicine, New Haven, CT.
David MeyerDepartment of Pediatric Cardiothoracic Surgery (D.M.), Steven and Alexandra Cohen Children's Medical Center of New York, New Hyde Park.
Khanh NguyenPediatric Cardiac Surgery, Maria Fareri Children's Hospital, Valhalla, NY (K.N.).
Daniel BernsteinDepartment of Pediatrics, Stanford University, CA (D.B.).
Angela Romano-AdesmanDepartment of Cardiology (M.T.B., L.A.S., A.E.R., J.W.N.), Harvard Medical School, MA.
George A PorterDepartment of Pediatrics, University of Rochester Medical Center, NY (G.A.P.).
Elizabeth GoldmuntzDepartment of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia (E.G.).
Wendy K ChungDepartments of Pediatrics and Medicine (M.L., W.K.C.), New York-Presbyterian Hospital/Columbia University Medical Center.
Deepak SrivastavaGladstone Institute of Cardiovascular Disease, San Francisco, CA (D.S.).
Jonathan R KaltmanHeart Development and Structural Diseases Branch, Division of Cardiovascular Sciences, NHLBI/NIH, Bethesda, MD (J.R.K.).
Martin Tristani-FirouziDepartment of Pediatrics, University of Utah Medical Center, Salt Lake City (M.T.-F.).
Richard LiftonDepartment of Genetics (R.L., M.B.), Yale University School of Medicine, New Haven, CT.
Amy E RobertsDepartment of Pediatrics (M.T.B., L.A.S., A.E.R., J.W.N.), Harvard Medical School, MA.
J William GaynorDepartment of Pediatrics (M.T.B., L.A.S., A.E.R., J.W.N.), Harvard Medical School, MA.
Bruce D GelbMindich Child Health and Development Institute (K.B.M., B.D.G.), Icahn School of Medicine at Mount Sinai, New York, NY.
Richard KimPediatric Cardiac Surgery, Children's Hospital of Los Angeles, CA (R.K.).
Jonathan G SeidmanDepartment of Genetics (M.T.B., J.H., S.M., A.T., J.G., J.G.S., C.E.S.), Harvard Medical School, MA.
Martina BruecknerDepartment of Genetics (R.L., M.B.), Yale University School of Medicine, New Haven, CT.
John E MayerDepartment of Cardiac Surgery (M.T.B., M.N., J.E.M.), Harvard Medical School, MA.
Jane W NewburgerDepartment of Cardiology (M.T.B., L.A.S., A.E.R., J.W.N.), Harvard Medical School, MA.
Christine E SeidmanDivision of Cardiovascular Medicine, Department of Medicine, Brigham and Women's Hospital (C.E.S.), Harvard Medical School, MA.
Harvard University · USBoston Children's Hospital · USNewYork–Presbyterian Hospital · USYale University · USChild Health and Development Institute · USTwitter (United States) · USUniversity of Rochester · USBrigham and Women's Hospital · USChildren's Hospital of Los Angeles · USChildren's Hospital of Philadelphia · USCohen Children's Medical Center · USGladstone Institutes · USMaria Fareri Children's Hospital · USNational Heart Lung and Blood Institute · USStanford University · USUniversity of Pennsylvania · USUniversity of Rochester Medical Center · USUniversity of Utah · US
Funding
Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9MNHLBI Pediatric Translational Consortium Administrative Coordinating CenterU01HL098188 · NHLBI · NEW ENGLAND RESEARCH INSTITUTES, INC. · PI HAMZA, TAYE, MILLER, JULIE ELAINE · 2009 to 2015
$41.3MInstitutional Clinical and Translational Science AwardUL1TR000003 · NCATS · UNIVERSITY OF PENNSYLVANIA · PI FITZGERALD, GARRET A · 2012 to 2015
$38.9MRESEARCH METHODS IN PEDIATRICS HEART DISEASET32HL007572 · NHLBI · CHILDREN'S HOSPITAL BOSTON · PI Sarah D DE FERRANTI, Jane W. Newburger · 1985 to 2026
$13.0MYale Center for Mendelian DisordersU54HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2012 to 2015
$11.0MGenomic Effects on Right Ventricular Function, Clinical Features and Outcomes in CHDU01HL098147 · NHLBI · BOSTON CHILDREN'S HOSPITAL · PI NEWBURGER, JANE W., ROBERTS, AMY E · 2009 to 2024
$6.7MGenetic determinants of human heterotaxy and aortic arch malformationU01HL098162 · NHLBI · YALE UNIVERSITY · PI BRUECKNER, MARTINA, GRUBER, PETER J · 2009 to 2024
$5.9MThe Genetic Basis of Conotruncal DefectsU01HL098153 · NHLBI · CHILDREN'S HOSP OF PHILADELPHIA · PI GOLDMUNTZ, ELIZABETH · 2009 to 2014
$4.3MGenomic studies of secundum atrial septal defectsU01HL098123 · NHLBI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI GELB, BRUCE D · 2009 to 2014
$4.1MMolecular approaches to gene identification in congenital heart diseaseU01HL098163 · NHLBI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI CHUNG, WENDY K, WARBURTON, DOROTHY P. · 2009 to 2014
$3.9MGenetics of Hypoplastic Left Heart SyndromeUM1HL128761 · NHLBI · J. DAVID GLADSTONE INSTITUTES · PI BERNSTEIN, DANIEL, SRIVASTAVA, DEEPAK · 2015 to 2019
$2.5MThe Genomic Basis of Congenital Heart Disease and Neurodevelopmental OutcomesUM1HL098147 · NHLBI · BOSTON CHILDREN'S HOSPITAL · PI NEWBURGER, JANE W., ROBERTS, AMY E · 2015 to 2019
$2.4MHoward Hughes Medical InstituteNCATS NIH HHS UL1 TR000003NCATS NIH HHS UL1 TR001863NHGRI NIH HHS U54 HG006504NHLBI NIH HHS T32 HL007572NHLBI NIH HHS U01 HL098123NHLBI NIH HHS U01 HL098147NHLBI NIH HHS U01 HL098153NHLBI NIH HHS U01 HL098162NHLBI NIH HHS U01 HL098163NHLBI NIH HHS U01 HL098188NHLBI NIH HHS U01 HL153009NHLBI NIH HHS UM1 HL098147NHLBI NIH HHS UM1 HL098162NHLBI NIH HHS UM1 HL128711NHLBI NIH HHS UM1 HL128761
Abstract
backgroundDe novo genic and copy number variants are enriched in patients with congenital heart disease, particularly those with extra-cardiac anomalies. The impact of de novo damaging variants on outcomes following cardiac repair is unknown.
methodsWe studied 2517 patients with congenital heart disease who had undergone whole-exome sequencing as part of the CHD GENES study (Congenital Heart Disease Genetic Network).
resultsTwo hundred ninety-four patients (11.7%) had clinically significant de novo variants. Patients with de novo damaging variants were 2.4 times more likely to have extra-cardiac anomalies (
conclusionsIn patients with congenital heart disease undergoing open-heart surgery, de novo variants were associated with worse transplant-free survival and longer times on the ventilator. De novo variants were most strongly associated with adverse outcomes among patients without extra-cardiac anomalies, suggesting a benefit for preoperative genetic testing even when genetic abnormalities are not suspected during routine clinical practice. Registration: URL: https://www.clinicaltrials.gov. Unique identifier: NCT01196182.
Indexed as
DNA Copy Number VariationsAdolescentChildChild, PreschoolChromosomes, Human, Pair 15Chromosomes, Human, Pair 3Exome SequencingFemaleHeart Defects, CongenitalHeart TransplantationHumansInfantKaplan-Meier EstimateMachine LearningMaleOdds Ratiocongenital heart diseasegenomicsheart transplantationmortalitysurvival
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Read underepoch 390
Registered trials
NCT01196182ClinicalTrials.gov
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.