Lin A E, Chin A J, Devine W, Park S C, Zackai E
Am J Dis Child. 1987 Sep;141(9):1010-3. doi: 10.1001/archpedi.1987.04460090087034.
Congenital heart disease occurred in 64% of patients with the CHARGE (coloboma, heart disease, choanal atresia, retardation of postnatal growth and mental development, genitalia hypoplasia, and ear anomalies) association (55% of 67 previously described patients and 100% of 16 new patients). Of those with congenital heart disease, 42% had conotruncal anomalies (tetralogy of Fallot, double-outlet right ventricle, truncus arteriosus), and 36% had aortic arch anomalies (vascular ring, aberrant subclavian artery, interrupted aortic arch). This striking pattern of cardiovascular malformations is similar to that found in the DiGeorge sequence.
先天性心脏病发生于64%的患有CHARGE（眼缺损、心脏病、后鼻孔闭锁、出生后生长和智力发育迟缓、生殖器发育不全及耳部异常）综合征的患者中（在先前描述的67例患者中有55%，在16例新患者中有100%）。在患有先天性心脏病的患者中，42%有圆锥动脉干异常（法洛四联症、右心室双出口、动脉干永存），36%有主动脉弓异常（血管环、迷走锁骨下动脉、主动脉弓中断）。这种显著的心血管畸形模式与在DiGeorge序列中发现的相似。
