Progresses on relationship of conotruncal heart defects and retinoic acid signaling pathway / 国际儿科学杂志

ABSTRACT

Congenital conotruncal heart defects (CHD),including tetralogy of Fallot (TOF),double outlet of right ventricle(DORV),transposition of the great arteries(TGA),persistent truncus arteriosus (PTA),is a variety of common and serious congenital cardiovascular diseases which are threatenting to the health of neonates and infants.Previous studies have demostrated that TBX1 contricuted to some of the CHD.Recent studies have also confirmed that retinoic acid signaling pathway plays a curcial role of development of CHD.Further studies have also found that TGF-β2 differential expression is closely related with phenotypic polymorphism of conotruncal heart defects in retinoic acid receptor mutant mice,of which the mechanism is not yet clear.This paper provides an overview of the relationship between TBX1-RA signaling pathway and congenital conotruncal heart defects and TGF-β2-RA and CHD during the development of CHD.