Implications of Transcriptome Reprogramming in Tetralogy of Fallot

Introduction: Tetralogy of Fallot is a congenital cardiac condition that affects around one in every 4,000 to 7,500 births. Patients with this illness often have four major cardiac defects: a ventricular septal defect, secondary aortic stenosis, pulmonary valve malalignment, and right ventricular hypertrophy. These anomalies impede normal blood flow through the heart, hindering the body's oxygen supply. The etiology of Tetralogy of Fallot involves a complex interplay of genes and environmental factors, highlighting the importance of genetic factors in its development; however, specific genetic variants and mutations are still being studied. Methods: Tetralogy of Fallot (TOF) and other cardiac illnesses have been studied with great success attributable in major part to transcriptomics. Three transcriptome gene expression matrices (GSE36761, GSE132401, and GSE217772) from patients with tetralogy of Fallot were particularly gathered from public databases for this investigation. GSEA and WGCNA were used to investigate gene expression in patient heart tissue. Results: This study identified important genes, such as MRPS34, as well as pathways and regulatory networks associated with the disease. Discussion: In this study, we identified MRPS34 as a potential key gene in TOF, suggesting that mitochondrial dysfunction may contribute to right ventricular pathology and metabolic stress. These findings provided important molecular evidence for in-depth analysis of the pathological and physiological mechanisms of tetralogy of Fallot. Conclusion: This study contributes to a better understanding of the pathophysiology of TOF, laying the groundwork for future research on the issue. Current applications in medicine also generate fresh perspectives and ideas.