Conotruncal heart defects (CTDs) are complex congenital heart defects caused by abnormal development of ventricular outflow tract during embryonic period. They are common types of congenital heart disease and have poor prognosis after birth, which seriously endanger children’s health. In recent years, researchers at home and abroad have carried out a large amount of genetic study on CTDs. The specific disease-causing genes and their mechanism yet remain unknown, however, numbers of recognized candidate genes have been screened out from experimental animals and patients. The article focuses on summarizing researches on candidate gene mutations and provides reference for the etiology study of CTDs.