ReviewCurrent opinion in pediatrics2018
Genetic evaluation of patients with congenital heart disease.
Review in Current opinion in pediatrics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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
16 citing papers in PubMed, 25 citations in OpenAlex.
- Distribution, recognition and clinical implications of syndromic conditions in adults with congenital heart disease.Open heart · 2026Article
- Diagnostic yield of exome and genome sequencing for critically ill pediatric cardiac patients.Translational pediatrics · 2026Article
- Genomic spectrum of congenital heart disease combined with kidney and urinary tract anomalies uncovered by exome sequencing and array-CGH.Frontiers in cell and developmental biology · 2026Article
- Evaluation of Exome and Genome Sequencing for Critically Ill Pediatric Cardiac Patients.Research square · 2025Article
- Rare Diseases and Congenital Heart Diseases: A Call for Genetic Insight.Anatolian journal of cardiology · 2025Article
- Clinical Genetic and Genomic Testing in Congenital Heart Disease and Cardiomyopathy.Journal of clinical medicine · 2024Review
- Current approach to genetic testing and genetic evaluation referrals for adults with congenital heart disease.Frontiers in genetics · 2024Article
- Role of Vascular Endothelial Growth Factor as a Potential Biomarker in Congenital Heart Defects: A Systematic Review.The journal of Tehran Heart Center · 2023Review
- Harmonization of Multi-Center Diffusion Tensor Tractography in Neonates with Congenital Heart Disease: Optimizing Post-Processing and Application of ComBat.Neuroimage. Reports · 2022Article
- Congenital heart defects and copy number variants associated with neurodevelopmental impairment.American journal of medical genetics. Part A · 2022Article
- Genetic evaluation of newborns with critical congenital heart defects admitted to the intensive care unit.European journal of pediatrics · 2021Article
- Review
- Epidemiology of Pediatric Heart Failure in the USA-a 15-Year Multi-Institutional Study.Pediatric cardiology · 2021Article
- Variants of significance: medical genetics and surgical outcomes in congenital heart disease.Current opinion in pediatrics · 2020Review
- A Person-Centered Approach to Cardiovascular Genetic Testing.Cold Spring Harbor perspectives in medicine · 2020Review
- Three year experience of a clinical cardiovascular genetics program for infants with congenital heart disease.Congenital heart disease · 2019Article
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
No grant is acknowledged in the PubMed record.
Abstract
purpose of reviewThe aim of this study is to review genetics of congenital heart disease (CHD) with a focus on clinical applications, genetic testing and clinical challenges. RECENT
findingsWith improved clinical care, there is a rapidly expanding population of adults, especially women, with CHD who have not undergone contemporary genetic assessment and do not understand their risk for having a child with CHD. Many patients have never undergone assessment or had genetic testing. A major barrier is medical geneticist availability, resulting in this burden of care shifting to providers outside of genetics. Even with current understanding, the cause for the majority of cases of CHD is still not known. There are significant gaps in knowledge in the realms of more complex causes such as noncoding variants, multigenic contribution and small structural chromosomal anomalies. SUMMARY: Standard assessment of patients with CHD, including adult survivors, is indicated. The best first-line genetic assessment for most patients with CHD is a chromosomal microarray, and this will soon evolve to be genomic sequencing with copy number variant analysis. Due to lack of medical geneticists, creative solutions to maximize the number of patients with CHD who undergo assessment with standard protocols and plans for support with result interpretation need to be explored.
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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.