圆锥动脉干畸形与染色体22q11.2微缺失之间的关系

染色体22q11.2微缺失综合征患儿中约80％合并有先天性心血管畸形.研究发现,染色体22q11.2区内基因(TBX1、CRKL、ERK2)参与染色体22q11.2微缺失的发生.合并染色体22q11.2微缺失最常见的心血管畸形是圆锥动脉干畸形,包括法洛四联症、室间隔缺损型肺动脉闭锁、永存动脉干以及主动脉弓中断.主要表型...

Relationship of conotruncal anomalies and chromosome 22q11.2 deletion

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.