Abstract
Congenital heart disease(CHD) is a class of cardiovascular malformation caused by abnormal development of cardiovascular system, developmental disorders, or degenerative tissue which should be degenerated after birth during embryonic development, and tetralogy of Fallot is one of the most serious types of CHD, including ventricular septal defect (VSD), overriding aorta (OA), pulmonic stenosis (PS) and right ventricular hypertrophy (RVH). Up to now, a series of clinical evidence shows that genetic factors have been involved in the occurrence of TOF, and some gene mutations are associated with the occurrence of TOF, of which NKX2-5, GATA4, TBX5 and TBX20 have been confirmed to be highly correlated with TOF.Based on the existing research results, this paper expounds the relationship between etiology and pathogenesis of tetralogy of Fallot and the mutations of NKX2-5, GATA4, TBX5 and TBX20. Key words: Congenital heart disease; tetralogy of Fallot; Susceptibility gene
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