SynthesisAmerican journal of medical genetics. Part A2012
Consanguinity and the risk of congenital heart disease.
Synthesis in American journal of medical genetics. Part A, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 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
35 citing papers in PubMed, 1 synthesis or guideline pooled it, 106 citations in OpenAlex.
- Associations between two genetic variants in NKX2-5 and risk of congenital heart disease in Chinese population: a meta-analysis.PloS one · 2013Pooled it
- Circulating levels of growth differentiation factor-15 and its genetic variants -3148C>G (rs4808793) in pediatric cardiac patients.World journal of clinical pediatrics · 2026Article
- Parental knowledge, awareness, and intended healthcare-seeking responses toward congenital heart disease in the West Bank, Palestine: a cross-sectional study.BMC public health · 2026Article
- Prospective Evaluation of Pulse Oximetry Screening for Critical Congenital Heart Disease in a Jordanian Tertiary Hospital: High Incidence and Early Detection Challenges.Pediatric reports · 2025Article
- Incidence and long-term outcomes of dextro-transposition of the great arteries (d-TGA) in the Kingdom of Bahrain.Frontiers in cardiovascular medicine · 2025Article
- Airway Abnormalities in Children Operated for Congenital Heart Disease:Sultan Qaboos University medical journal · 2025Article
- Rare homozygous cilia gene variants identified in consanguineous congenital heart disease patients.Human genetics · 2024Article
- Incidence and types of congenital heart disease at a referral hospital in Jordan: retrospective study from a tertiary center.Frontiers in pediatrics · 2023Article
- Analyzing Inbreeding and Estimating Its Related Deficiencies in Northeastern Brazil.Journal of pediatric genetics · 2022Article
- Recurrence pattern of non-syndromic familial congenital heart diseases among a large cohort of families from Egypt.BMC pediatrics · 2022Article
- Prevalence and risk factors for congenital heart defects among children in the Multi-Ethnic Yunnan Region of China.Translational pediatrics · 2022Article
- The current state of prenatal detection of genetic conditions in congenital heart defects.Translational pediatrics · 2021Review
- Article
- Genetic counseling in the context of Bangladesh: current scenario, challenges, and a framework for genetic service implementation.Orphanet journal of rare diseases · 2021Review
- Genealogy of patients with congenital heart disease in isolated populations.American journal of cardiovascular disease · 2021Article
- Exploring perceptions of consanguineous unions with women from an East London community: analysis of discussion groups.Journal of community genetics · 2020Article
- Genetic Contribution to Congenital Heart Disease (CHD).Pediatric cardiology · 2020Review
- Genetic architecture of laterality defects revealed by whole exome sequencing.European journal of human genetics : EJHG · 2019Article
- Weighted likelihood inference of genomic autozygosity patterns in dense genotype data.BMC genomics · 2017Article
- Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.Nature genetics · 2017Article
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 3 institutions in 2 countries.
Funding
Abstract
Consanguineous unions have been associated with an increased susceptibility to various forms of inherited disease. Although consanguinity is known to contribute to recessive diseases, the potential role of consanguinity in certain common birth defects is less clear, particularly since the disease pathophysiology may involve genetic and environmental/epigenetic factors. In this study, we ask whether consanguinity affects one of the most common birth defects, congenital heart disease, and identify areas for further research into these birth defects, since consanguinity may now impact health on a near-global basis. A systematic review of consanguinity in congenital heart disease was performed, focusing on non-syndromic disease, with the methodologies and results from studies of different ethnic populations compared. The risks for congenital heart disease have been assessed and summarized collectively and by individual lesion. The majority of studies support the view that consanguinity increases the prevalence of congenital heart disease, however, the study designs differed dramatically. Only a few (n = 3) population-based studies that controlled for potential sociodemographic confounding were identified, and data on individual cardiac lesions were limited by case numbers. Overall the results suggest that the risk for congenital heart disease is increased in consanguineous unions in the studied populations, principally at first-cousin level and closer, a factor that should be considered in empiric risk estimates in genetic counseling. However, for more precise risk estimates a better understanding of the underlying disease factors is needed.
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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.