ReviewPediatric cardiology2020
Genetic Contribution to Congenital Heart Disease (CHD).
Review in Pediatric cardiology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 2 of them syntheses that pooled it.
What it found
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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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
29 citing papers in PubMed, 2 syntheses or guidelines pooled it, 55 citations in OpenAlex.
- Congenital heart disease diagnosis using machine learning: a systematic literature review.Frontiers in medicine · 2026Pooled it
- Pooled it
- Emerging genes implicated in human congenital heart disease: a 2023-2025 scoping review.Translational pediatrics · 2026Review
- Congenital Heart Disease Associated With Genetic Syndromes and Extracardiac Anomalies: A Six-Year Epidemiological Study in a Brazilian Referral Center.Birth defects research · 2026Article
- Congenital heart defects genetic architecture in a small cohort: an integrated approach to prioritizing variants.Frontiers in cardiovascular medicine · 2026Article
- Genetic findings of children with congenital heart diseases using chromosomal microarray and trio-based whole exome sequencing.Scientific reports · 2025Article
- Burden of Congenital Heart Anomalies in North Africa and the Middle East, 1990 to 2021: A Systematic Analysis for the Global Burden of Disease Study 2021.Journal of the American Heart Association · 2025Article
- Implementation and Strategy in Developmental Care Practice in Infants with Congenital Heart Disease in Intensive Care Unit: Scoping Review.Journal of multidisciplinary healthcare · 2025Review
- Prediction of cyanotic and acyanotic congenital heart disease using machine learning models.World journal of clinical pediatrics · 2024Article
- The Genetic Architecture of Congenital Heart Disease in Neonatal Intensive Care Unit Patients-The Experience of University Medical Centre, Ljubljana.Life (Basel, Switzerland) · 2024Article
- Novel and deleterious nucleotide variations in the HAND1 gene probably affect miRNA target sites and protein function in pediatric patients with congenital heart disease.Molecular biology reports · 2024Article
- Article
- Prenatal detection of novel compound heterozygous variants of theFrontiers in genetics · 2024Article
- Assessment of 4D flow MRI for quantification of left-to-right shunt in pediatric patients with ventricular septal defect: comparison with right heart catheterization.Frontiers in cardiovascular medicine · 2024Article
- Analysis of theTranslational pediatrics · 2023Article
- Genetic studies in the Pakistani population reveal novel associations with ventricular septal defects (VSDs).BMC pediatrics · 2023Article
- Clinical profile of congenital heart diseases detected in a tertiary hospital in China: a retrospective analysis.Frontiers in cardiovascular medicine · 2023Article
- Genetic Variants ofJournal of cardiovascular development and disease · 2022Article
- Mutational Assessment inInternational journal of environmental research and public health · 2022Article
- WDR62 variants contribute to congenital heart disease by inhibiting cardiomyocyte proliferation.Clinical and translational medicine · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital heart defects (CHD) are the most common congenital problems in neonates. The basis for CHD is multifactorial, involving genetic and environmental components. The elucidation of genetic components remains difficult because it is a genetically heterogeneous disease. Currently, the major identified genetic causes include chromosomal abnormalities, large subchromosomal deletions/duplications, and point mutations. However, much more remains to be unraveled. An important insight from the research on the genetics of CHD is that any change at the genetic level that alters the dosage of genes required in any process during heart development results in a developmental defect. The use of conventional gene identification (linkage analysis and direct targeted sequencing) methods followed by the rapid advancements in high-throughput technologies (copy number variant platforms, SNP arrays, and next-generation sequencing) has identified an extensive list of genetic causes. However, the most common presentation of CHD is in the form of sporadic cases. Therefore, it is important to identify their underlying genetic cause. In this review, we revisit the causal genetic factors of CHD and discuss the clinical implications of research in the field.
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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.