single nucleotide polymorphisms in chlidren with ventricular septal defect (vsd): a literature review

Ventricular septal defect (vsd) is the most common congenital heart defect, accounting for a significant number of neonatal and pediatric morbidity and mortality. the genetic basis of vsd has been increasingly recognized, with particular emphasis on single nucleotide polymorphisms (snps) in various cardiac transcription factor genes such as nkx2.5, tbx5, gata4, and gata6. this literature review aims to analyse the association of these snps with vsd and explore their interaction with the insulin growth factor-1 (igf-1) pathway. a comprehensive literature search was conducted on pubmed and google scholar to identify relevant studies published in 2014-2024. the focus was on articles exploring the relationship between snps in the nkx2.5, tbx5, gata4, and gata6 genes and the occurrence of vsd, as well as the role of igf-1 in cardiac development and its interaction with these genetic factors. the findings indicate a significant relationship between snps in the nkx2.5, tbx5, and gata4 genes and an increased risk of vsd. gata6 polymorphisms were also implicated in vsd pathogenesis, albeit with less frequency. in addition, igf-1 was identified as a key mediator of cardiac development, with evidence suggesting that variations in gata4 and gata6 can influence igf-1 expression, potentially exacerbating vsd formation. snps in the nkx2.5, tbx5, gata4, and gata6 genes play a critical role in the pathogenesis of vsd. furthermore, the interaction between these genetic factors and the igf-1 pathway offers a potential mechanistic explanation for the development of vsd, providing new insights for targeted genetic counselling and therapeutic strategies.