Congenital heart disorders (CHDs) are common, estimated to affect 8 out of every 1000 live births, and they are associated with high mortality and morbidity. It is still unknown what causes CHDs. In the pathophysiology of CHD, environmental and inherited factors are both involved. The zinc-finger transcription factor GATA4 is crucial for the early stages of heart morphogenesis. Early expression of GATA4 in the pro-cardiogenic splanchnic mesoderm is necessary for the creation of pre-epicardium during cardiac development. Additionally, it controls the expression of the Wnt 11 gene, which controls early cardiogenesis. Congenital heart disorders are thought to be brought on by GATA4 mutations. The role of GATA4 mutations in the occurrence of congenital cardiac disorders in our environment is not well understood. Case–control GATA4 mutation analysis was performed to shed light on the etiology of sporadic non-syndromic congenital cardiac disorders. Using high-resolution melting assays and sequencing analysis, we have screened exons 7 and 2 of GATA4, which are regarded as molecular hot spots in patients with sporadic congenital heart diseases. In addition, we sequenced GATA4 exon 7, which comprises crucial regulatory components involved in polyadenylation, nuclear transport, translation, and messenger RNA degradation. We have taken into account non-inherited risk factors that are also connected to the pathophysiology of congenital heart disorders, such as folic acid, alcohol, gestational age, birth weight, and maternal age. We have identified missense insertion, silent substitution, and missense substitution of the GATA4 gene in phenotypes, namely; tetralogy of Fallot, ventricular septal defects, and atrial septal defects.
