ReviewCirculation journal : official journal of the Japanese Circulation Society2017
The Complex Genetic Basis of Congenital Heart Defects.
Review in Circulation journal : official journal of the Japanese Circulation Society, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 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.
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Who cites it
20 citing papers in PubMed, 36 citations in OpenAlex.
- The oligogenic inheritance test GCOD detects risk genes and their interactions in congenital heart defects.Genome research · 2026Article
- A machine learning classifier to identify and prioritise genes associated with murine cardiac development.PLoS genetics · 2026Article
- The Congenital Malformation of the Interatrial Septum-A Review of Its Development and Embryology with Clinical Implications.Journal of developmental biology · 2025Review
- Cardiac Development and Factors Influencing the Development of Congenital Heart Defects (CHDs): Part I.International journal of molecular sciences · 2024Review
- Human Genetics of Congenital Heart Defects.Advances in experimental medicine and biology · 2024Review
- A gene-based association test of interactions for maternal-fetal genotypes identifies genes associated with nonsyndromic congenital heart defects.Genetic epidemiology · 2023Article
- Mutations in genes related to myocyte contraction and ventricular septum development in non-syndromic tetralogy of Fallot.Frontiers in cardiovascular medicine · 2023Article
- Concomitant genetic defects potentiate the adverse impact of prenatal alcohol exposure on cardiac outflow tract maturation.Birth defects research · 2022Article
- Novel Point Mutations in 3'-Untranslated Region of GATA4 Gene Are Associated with Sporadic Non-syndromic Atrial and Ventricular Septal Defects.Current medical science · 2022Article
- Association of Alcohol Use Diagnostic Codes in Pregnancy and Offspring Conotruncal and Endocardial Cushion Heart Defects.Journal of the American Heart Association · 2022Article
- Article
- In Vivo and In Vitro Genetic Models of Congenital Heart Disease.Cold Spring Harbor perspectives in biology · 2021Review
- Establishment of a Dihydrofolate Reductase Gene Knock-In Zebrafish Strain to Aid Preliminary Analysis of Congenital Heart Disease Mechanisms.Frontiers in cardiovascular medicine · 2021Article
- Genetic and Cellular Interaction During Cardiovascular Development Implicated in Congenital Heart Diseases.Frontiers in cardiovascular medicine · 2021Review
- Vascular ring anomaly in a patient with phosphomannomutase 2 deficiency: A case report and review of the literature.JIMD reports · 2020Article
- Delta-like ligand 4-mediated Notch signaling controls proliferation of second heart field progenitor cells by regulating Fgf8 expression.Development (Cambridge, England) · 2020Article
- Determining genetic variants in children and adolescents suffering from tetralogy of Fallot with a positive family history: methodology.Acta bio-medica : Atenei Parmensis · 2020Article
- Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants.Human molecular genetics · 2020Article
- Left-right patterning in congenital heart disease beyond heterotaxy.American journal of medical genetics. Part C, Seminars in medical genetics · 2020Review
- ISL1 loss-of-function mutation contributes to congenital heart defects.Heart and vessels · 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
4 authors.
Funding
Abstract
Twenty years ago, chromosomal abnormalities were the only identifiable genetic causes of a small fraction of congenital heart defects (CHD). Today, a de novo or inherited genetic abnormality can be identified as pathogenic in one-third of cases. We refer to them here as monogenic causes, insofar as the genetic abnormality has a readily detectable, large effect. What explains the other two-thirds? This review considers a complex genetic basis. That is, a combination of genetic mutations or variants that individually may have little or no detectable effect contribute to the pathogenesis of a heart defect. Genes in the embryo that act directly in cardiac developmental pathways have received the most attention, but genes in the mother that establish the gestational milieu via pathways related to metabolism and aging also have an effect. A growing body of evidence highlights the pathogenic significance of genetic interactions in the embryo and maternal effects that have a genetic basis. The investigation of CHD as guided by a complex genetic model could help estimate risk more precisely and logically lead to a means of prevention.
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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.