Relationship of conotruncal anomalies and chromosome 22q11.2 deletion
10.3760/cma.j.issn.1673-4408.2011.06.026
- VernacularTitle:圆锥动脉干畸形与染色体22q11.2微缺失之间的关系
- Author:
Jianying DENG
;
Zewei ZHANG
- Publication Type:Journal Article
- Keywords:
Conotruncal anomalies;
Chromosome deletion;
Congenital heart disease
- From:
International Journal of Pediatrics
2011;38(6):612-616
- CountryChina
- Language:Chinese
-
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.
