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.
ABSTRACT
Congenital cardiovascular anomalies are present in approximately 80％ of children with 22q11.2 deletion syndrome.Three genes in chromosome 22q11.2 ( TBX1,CRKL,and ERK2 ) have been identified whose haploinsufficiency causes anomalies of 22q11.2 deletion.The most common diseases are conotruncal anomalies,which include tetralogy of Fallot ( TOF),pulmonary atresia with ventricular septum defect (PA-VSD),truncus arteriosus,and interrupted aortic arch.In major phenotypes,a high prevalence of the deletion is noted in patients with TOF with pulmonary atresia,TOF associated with pulmonary atresia and major aortopumonary collateral arteries,persistent truncus arteriosus,and type B interruption of aortic arch.In minor phenotypes,right aortic arch,aberrant subclavian artery,and major aortopulmonary collateral arteries are frequently associated with cardiovascular anomalies associated with 22q11.2 deletion.In conclusion,conotruncal anomaly associated with aortic arch and branch anomalies should increase the suspicion of 22q11.2 deletion.