ReviewTranslational pediatrics2021
Genetics of congenital heart disease: a narrative review of recent advances and clinical implications.
Review in Translational pediatrics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01192048 (Genetic Testing of Individuals and Families With Congenital Heart Disease), which is not on this map. Cited by 66 papers, 1 of them a synthesis that pooled 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.
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.
Genetic Testing of Individuals and Families With Congenital Heart Disease
Who cites it
66 citing papers in PubMed, 1 synthesis or guideline pooled it, 106 citations in OpenAlex.
- Maternal modifiable factors and risk of congenital heart defects: systematic review and causality assessment.BMJ open · 2024Pooled it
- Genetic Evaluation Practices for Neonates with Congenital Heart Disease in Pediatric Cardiac Intensive Care Units: Findings from a Multi-institutional Survey.Pediatric cardiology · 2026Article
- The Heart of Fetal Growth Restriction: Congenital Heart Defects-An Analysis of Risk Factors and Morbidity Outcomes.Life (Basel, Switzerland) · 2026Article
- Article
- Supervised Fine-Tuning of Large Language Models With Chain-of-Thought Reasoning for Pediatric Heart Disease Detection in Unstructured Echocardiogram Reports: Algorithm Development and Validation.JMIR formative research · 2026Article
- The Impact of Maternal Obesity and Diabetes on the Development of Congenital Heart Defects (CHDs) in Offspring: A Narrative Review.Metabolites · 2026Review
- Distribution, recognition and clinical implications of syndromic conditions in adults with congenital heart disease.Open heart · 2026Article
- Review
- Diagnostic yield of exome and genome sequencing for critically ill pediatric cardiac patients.Translational pediatrics · 2026Article
- Application of Prenatal Whole Exome Sequencing for Congenital Heart Anomalies.International journal of molecular sciences · 2026Review
- Epidemiology of congenital heart defects in live births: findings from a study in Southern Brazil.BMC cardiovascular disorders · 2026Article
- Haploinsufficiency of Endothelial Nitric Oxide Synthase Mitigates Beneficial Effects of Maternal Exercise on Fetal Heart Development During Pregestational Diabetes.Journal of the American Heart Association · 2026Article
- Impact of anatomic complexity of congenital heart disease on growth retardation: a large retrospective cohort study.Frontiers in cardiovascular medicine · 2026Article
- Advancing Congenital Heart Defect Treatments: Synergistic Approaches with Stem Cells and Functional Scaffolds.Stem cell reviews and reports · 2026Review
- Multiomic Investigation of Shared Genetic Pathways in Paediatric Congenital Heart Disease and Neurodevelopmental Disorders.Human mutation · 2026Article
- Article
- Functional architecture of cardiac TF regulatory landscapes in control of mammalian heart development.bioRxiv : the preprint server for biology · 2025Article
- Exploring Breastfeeding Practices and Obstacles Among Mothers With and Without Congenital Heart Disease.Healthcare (Basel, Switzerland) · 2025Article
- Joint analysis ofNAR genomics and bioinformatics · 2025Article
- Expression of Netrin-1 in the developing mouse heart.Gene expression patterns : GEP · 2025Article
6 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Congenital heart disease (CHD) is the most common human birth defect and remains a leading cause of mortality in childhood. Although advances in clinical management have improved the survival of children with CHD, adult survivors commonly experience cardiac and non-cardiac comorbidities, which affect quality of life and prognosis. Therefore, the elucidation of genetic etiologies of CHD not only has important clinical implications for genetic counseling of patients and families but may also impact clinical outcomes by identifying at-risk patients. Recent advancements in genetic technologies, including massively parallel sequencing, have allowed for the discovery of new genetic etiologies for CHD. Although variant prioritization and interpretation of pathogenicity remain challenges in the field of CHD genomics, advances in single-cell genomics and functional genomics using cellular and animal models of CHD have the potential to provide novel insights into the underlying mechanisms of CHD and its associated morbidities. In this review, we provide an updated summary of the established genetic contributors to CHD and discuss recent advances in our understanding of the genetic architecture of CHD along with current challenges with the interpretation of genetic variation. Furthermore, we highlight the clinical implications of genetic findings to predict and potentially improve clinical outcomes in patients with CHD.
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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.