Abstract

TBX20 gene encodes a T-box transcription factor, which plays an important role in cardiac deve-lopment and in maintaining the maturation of cardiac function.TBX20 mutations are related to a variety of human congenital heart diseases (CHD) that include atrial septal defect, ventricular septal defect, tetralogy of Fallot, double outlet right ventricle, dilated cardiomyopathy and other valvular diseases.This review focuses on the relationship between TBX20 gene and the development of heart, the TBX20 gene mutations newly found in patients with various CHD in recent years and their relationship, which will provide guide for further clinical research and possible intervention. Key words: Congenital Heart disease; TBX20 gene; Gene mutation

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