ArticleAmerican journal of medical genetics. Part A2014
Risk of congenital heart disease in relatives of probands with conotruncal cardiac defects: an evaluation of 1,620 families.
Article in American journal of medical genetics. Part A, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis 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
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- Gene-based genome-wide association studies and meta-analyses of conotruncal heart defects.PloS one · 2019Pooled it
- Trial
- Congenital heart defects: familial recurrence patterns in Sweden.European heart journal · 2026Article
- The landscape of management and outcome of children with congenitally corrected transposition of the great arteries: a single-center experience.Frontiers in cardiovascular medicine · 2025Article
- Pathogenesis and Surgical Treatment of Dextro-Transposition of the Great Arteries (D-TGA): Part II.Journal of clinical medicine · 2024Review
- Triple repeated fetal congenital heart disease linked to PLD1 mutation: a case report.Journal of medical case reports · 2023Article
- Recurrence pattern of non-syndromic familial congenital heart diseases among a large cohort of families from Egypt.BMC pediatrics · 2022Article
- 22q11.2 Deletion Syndrome: Impact of Genetics in the Treatment of Conotruncal Heart Defects.Children (Basel, Switzerland) · 2022Review
- Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries.Circulation research · 2022Article
- Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Personalized Genetic Diagnosis of Congenital Heart Defects in Newborns.Journal of personalized medicine · 2021Review
- 22q11.2 Deletion Status Influences Resource Utilization in Infants Requiring Repair of Tetralogy of Fallot and Common Arterial Trunk.Pediatric cardiology · 2020Article
- Proteomics analysis indicated the protein expression pattern related to the development of fetal conotruncal defects.Journal of cellular physiology · 2019Article
- Recurrent Congenital Heart Diseases Among Neonates Born to Mothers with Congenital Heart Diseases.Pediatric cardiology · 2019Article
- Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well-established knowledge to new frontiers.American journal of medical genetics. Part A · 2018Review
- Familial co-occurrence of congenital heart defects follows distinct patterns.European heart journal · 2018Article
- TBX1 loss-of-function mutation contributes to congenital conotruncal defects.Experimental and therapeutic medicine · 2018Article
- Genetics of congenital heart disease: the contribution of the noncoding regulatory genome.Journal of human genetics · 2016Review
- Current Practice and Utility of Chromosome Microarray Analysis in Infants Undergoing Cardiac Surgery.Congenital heart diseaseArticle
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
Current recurrence risk counseling for conotruncal cardiac defects (CTD) is based on empiric estimates from multiple studies. We examined the risk of congenital heart disease (CHD) in relatives of probands with CTDs to assist in counseling practices in the current era. One thousand six-twenty probands with CTDs and no reported chromosomal or genetic abnormalities were recruited sequentially. A three-generation pedigree was obtained for each proband by a genetic counselor detailing the presence and type of CHD in each family member. Risks and 95% confidence intervals (CI) were calculated for sub-groups of relatives based on degree of relationship for all probands and by individual lesion of the proband. For pairs of affected relatives, concordance rates were calculated. Severity of CHD in the affected relative was assessed. The risk of CHD was higher in siblings (4.4%, 95% CI 3.4-5.4) than in parents (1.5%, 95% CI 1.1-1.9). Risk varied by the cardiac lesion of the proband with the highest risk in first-degree relatives of probands with tetralogy of Fallot and the lowest in D-transposition of the great arteries. 39% of affected parents and 69% of affected siblings had a concordant lesion (i.e., CTD). Most affected siblings of probands with severe CTDs had complex defects (58%), whereas very few affected parents had complex defects (20%). These data suggest that recurrence risk varies by lesion and relationship, with substantial concordance observed by cardiac lesion and complexity of disease, particularly among siblings. These findings contribute to risk counseling in the current era.
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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.