The Contribution of Gene Mutations to the Pathogenesisof Tetralogy of Fallot

Abstract

Congenital heart disease (CHD) is considered as an important and developing area in the medical community. Since these patients can reach maturity and have children, the role of genetic determinants in increasing risk of CHD is extremely evident among children of these patients. Because genetic studies related to CHD are increasing, and each day the role of new genetic markers is more and more clarified, this review re-examined the effects of gene mutations in the pathogenesis of tetralogy of Fallot (TOF) as an important pathological model among other CHDs. Due to the complexity of heart development, it is not astonishing that numerous signaling pathways and transcription factors, and many genes are involved in pathogenesis of TOF. This review focuses on the jag1, nkx2.5, gata4, zfpm2/fog2 and cited2 genes previously reported to be involved in TOF.

Keywords

• Congenital heart disease
• Tetralogy of Fallot
• Gene mutation