ArticleCold Spring Harbor perspectives in biology2020
Genetic Basis of Human Congenital Heart Disease.
Article in Cold Spring Harbor perspectives in biology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers.
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Who cites it
47 citing papers in PubMed, 71 citations in OpenAlex.
- Delayed Diagnosis of Congenital Heart Diseases in Adults: Opportunities for Improving Diagnostic Strategies.Journal of cardiovascular development and disease · 2026Review
- Endocardial TIE2 orchestrates cardiac trabeculation via sequestering FOXO1 within the cytoplasm and stimulating versican cleavage.Development (Cambridge, England) · 2026Article
- Longitudinal Live Imaging-Derived 4D Hemodynamics and Dynamic Tissue Mechanics Across Outflow Tract Morphogenesis.Annals of biomedical engineering · 2026Article
- Kinemomics: spatiotemporal morphodynamic mapping of ventricular kinematic subpopulations in organotypic fetal heart slices.bioRxiv : the preprint server for biology · 2026Article
- The Impact of Maternal Obesity and Diabetes on the Development of Congenital Heart Defects (CHDs) in Offspring: A Narrative Review.Metabolites · 2026Review
- Novel compound heterozygous variants in theFrontiers in cardiovascular medicine · 2026Article
- Genetics of Congenital Heart Disease.Clinics in perinatology · 2025Review
- Genetics of Congenital Heart Disease: A Narrative Review of Challenges and Strategies in Identifying Novel Genes.Cureus · 2025Review
- Genetic findings of children with congenital heart diseases using chromosomal microarray and trio-based whole exome sequencing.Scientific reports · 2025Article
- Common and divergent cellular aetiologies underlying hypoplastic left heart syndrome and hypoplastic right heart syndrome.European heart journal · 2025Article
- The Role of miRNA Expression in Congenital Heart Disease: Insights into the Mechanisms and Biomarker Potential.Children (Basel, Switzerland) · 2025Review
- RNA-binding protein SAMD4A targets FGF2 to regulate cardiomyocyte lineage specification from human embryonic stem cells.Stem cell research & therapy · 2025Article
- Evaluation of prenatal and postnatal outcomes of fetuses with intrauterine cardiac anomalies: Tertiary center experience.Turkish journal of obstetrics and gynecology · 2025Article
- Integration of chromosomal microarray analysis and whole-exome sequencing for prenatal diagnosis of fetuses with cardiac ultrasound anomalies.Frontiers in genetics · 2025Article
- Genetic test results and one-year developmental outcomes of fetuses with congenital heart disease.Frontiers in pediatrics · 2025Article
- A modeling of complex trait phenotypic variance determinants.PNAS nexus · 2024Article
- Pregnancy outcomes among patients with complex congenital heart disease.NPJ cardiovascular health · 2024Article
- Cardiomyocyte proliferation and regeneration in congenital heart disease.Pediatric discovery · 2024Article
- Article
- The Evolving Role of Genetic Evaluation in the Prenatal Diagnosis and Management of Congenital Heart Disease.Journal of cardiovascular development and disease · 2024Review
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
Congenital heart disease (CHD) is the most common major congenital anomaly with an incidence of ∼1% of live births and is a significant cause of birth defect-related mortality. The genetic mechanisms underlying the development of CHD are complex and remain incompletely understood. Known genetic causes include all classes of genetic variation including chromosomal aneuploidies, copy number variants, and rare and common single-nucleotide variants, which can be either de novo or inherited. Among patients with CHD, ∼8%-12% have a chromosomal abnormality or aneuploidy, between 3% and 25% have a copy number variation, and 3%-5% have a single-gene defect in an established CHD gene with higher likelihood of identifying a genetic cause in patients with nonisolated CHD. These genetic variants disrupt or alter genes that play an important role in normal cardiac development and in some cases have pleiotropic effects on other organs. This work reviews some of the most common genetic causes of CHD as well as what is currently known about the underlying mechanisms.
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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.