ArticleAdvances in experimental medicine and biology2024
Human Genetics of Ventricular Septal Defect.
Article in Advances in experimental medicine and biology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- Unveiling the Prevalence and Surgical Burden of Neurocristopathies: A Scoping Review and Statistical Analysis.Research square · 2026Article
- Spatial transcriptomics reveals coordinated ventricular patterning and maturation in the developing human heart.Nature communications · 2026Article
- A rare mutation (p.Ala264Thr) of GATA4 is responsible for atrial septal defect and pulmonary valve stenosis.Scientific reports · 2026Article
- A machine learning classifier to identify and prioritise genes associated with murine cardiac development.PLoS genetics · 2026Article
- WNT4 deficiency impacts heart, diaphragm, and palate development: Insights from human genetics, machine learning, and mouse models.Developmental biology · 2026Article
- Isolated ventricular septal defect is not a risk factor for celiac disease: evidence from a large real-world data cohort of 493,382 children.Frontiers in pediatrics · 2026Article
- Uric Acid Disrupts Heart Development in Zebrafish by Inhibiting the Wnt Signaling Pathway.Cardiovascular toxicology · 2025Article
- In Vivo Models of Cardiovascular Disease:Biomedicines · 2025Review
- The Role of miRNA Expression in Congenital Heart Disease: Insights into the Mechanisms and Biomarker Potential.Children (Basel, Switzerland) · 2025Review
- A Comprehensive Review of Canine and Feline Ventricular Septal Defects-From Pathogenesis to Long-Term Follow-Up.Animals : an open access journal from MDPI · 2025Review
- Review
- Prenatal finding of isolated ventricular septal defect: genetic association, outcomes and counseling.Frontiers in genetics · 2024Review
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2 authors.
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Abstract
Ventricular septal defects (VSDs) are recognized as one of the commonest congenital heart diseases (CHD), accounting for up to 40% of all cardiac malformations, and occur as isolated CHDs as well as together with other cardiac and extracardiac congenital malformations in individual patients and families. The genetic etiology of VSD is complex and extraordinarily heterogeneous. Chromosomal abnormalities such as aneuploidy and structural variations as well as rare point mutations in various genes have been reported to be associated with this cardiac defect. This includes both well-defined syndromes with known genetic cause (e.g., DiGeorge syndrome and Holt-Oram syndrome) and so far undefined syndromic forms characterized by unspecific symptoms. Mutations in genes encoding cardiac transcription factors (e.g., NKX2-5 and GATA4) and signaling molecules (e.g., CFC1) have been most frequently found in VSD cases. Moreover, new high-resolution methods such as comparative genomic hybridization enabled the discovery of a high number of different copy number variations, leading to gain or loss of chromosomal regions often containing multiple genes, in patients with VSD. In this chapter, we will describe the broad genetic heterogeneity observed in VSD patients considering recent advances in this field.
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