ArticleCongenital heart disease
Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies.
Article in Congenital heart disease. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers, 2 of them syntheses 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
51 citing papers in PubMed, 2 syntheses or guidelines pooled it, 110 citations in OpenAlex.
- Genotype-phenotype associations in microtia: a systematic review.Orphanet journal of rare diseases · 2024Pooled it
- Elevated serum levels of ghrelin and TNF-α in patients with cyanotic and acyanotic congenital heart disease.World journal of pediatrics : WJP · 2017Pooled it
- Chromosome microarray analysis in the investigation of children with congenital heart disease.BMC pediatrics · 2017Trial
- Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.Circulation research · 2014Trial
- Ultra high-resolution gene centric genomic structural analysis of a non-syndromic congenital heart defect, Tetralogy of Fallot.PloS one · 2014Trial
- ADAM19: biological characteristics and implications in disease pathology and clinical applications.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2026Review
- Genetic Analysis Strategy for Diagnosing Congenital Heart Disease.Molecular syndromology · 2026Article
- Rapid Genome Sequencing Shows Diagnostic Utility in Infants With Congenital Heart Defects.Circulation. Genomic and precision medicine · 2026Article
- Enhancer of zeste homolog 2 (Ezh2) is required in mouse Isl1-expressing progenitors for proper development of cardiac and skeletal hindlimb structures.Biology open · 2026Article
- Structural variants in human congenital heart disease disrupt distal genomic regulatory contacts of developmental genes.bioRxiv : the preprint server for biology · 2026Article
- The Genetic Architecture of Congenital Heart Disease in Neonatal Intensive Care Unit Patients-The Experience of University Medical Centre, Ljubljana.Life (Basel, Switzerland) · 2024Article
- Clinical Genetic and Genomic Testing in Congenital Heart Disease and Cardiomyopathy.Journal of clinical medicine · 2024Review
- A novel genotype-phenotype between persistent-cloaca-related VACTERL and mutations of 8p23 and 12q23.1.Pediatric research · 2024Review
- Rapid Genome Sequencing Shows Diagnostic Utility In Infants With Congenital Heart Defects.Research square · 2024Article
- Human Genetics of Ventricular Septal Defect.Advances in experimental medicine and biology · 2024Article
- Outcomes and Associated Extracardiac Malformations in Neonates from Colombia with Severe Congenital Heart Disease.Pediatric cardiology · 2024Article
- Uncovering the Genetic Basis of Congenital Heart Disease: Recent Advancements and Implications for Clinical Management.CJC pediatric and congenital heart disease · 2023Review
- Genetic Testing Guidelines Impact Care in Newborns with Congenital Heart Defects.The Journal of pediatrics · 2023Article
- A multicenter cross-sectional study in infants with congenital heart defects demonstrates high diagnostic yield of genetic testing but variable evaluation practices.Genetics in medicine open · 2023Article
- The implication of chromosomal abnormalities in the surgical outcomes of Chinese pediatric patients with congenital heart disease.Frontiers in cardiovascular medicine · 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
8 authors at 3 institutions in 2 countries.
Funding
Abstract
objectiveMultiple genetic syndromes are caused by recurrent chromosomal microdeletions or microduplications. The increasing use of high-resolution microarrays in clinical analysis has allowed the identification of previously undetectable submicroscopic copy number variants (CNVs) associated with genetic disorders. We hypothesized that patients with congenital heart disease and additional dysmorphic features or other anomalies would be likely to harbor previously undetected CNVs, which might identify new disease loci or disease-related genes for various cardiac defects.
designCopy number analysis with single nucleotide polymorphism-based, oligonucleotide microarrays was performed on 58 patients with congenital heart disease and other dysmorphic features and/or other anomalies. The observed CNVs were validated using independent techniques and validated CNVs were further analyzed using computational algorithms and comparison with available control CNV datasets in order to assess their pathogenic potential.
resultsPotentially pathogenic CNVs were detected in twelve of 58 patients (20.7%), ranging in size from 240 Kb to 9.6 Mb. These CNVs contained between 1 and 55 genes, including NRP1, NTRK3, MESP1, ADAM19, and HAND1, all of which are known to participate in cardiac development.
conclusionsGenome-wide analysis in patients with congenital heart disease and additional phenotypes has identified potentially pathogenic CNVs affecting genes involved in cardiac development. The identified variant loci and the genes within them warrant further evaluation in similarly syndromic and nonsyndromic cardiac cohorts.
Indexed as
Identifiers
What OpenQuestion holds
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.