Lee Meng-Luen, Chen Hsiao-Neng, Chen Ming, Tsao Lon-Yen, Wang Bao-Tyan, Lee Mei-Hui, Chiu Ing-Sh
Division of Pediatric Cardiology, Department of Pediatrics, Changhua Christian Hospital, Changhua, Taiwan.
J Formos Med Assoc. 2006 Apr;105(4):284-9. doi: 10.1016/S0929-6646(09)60119-4.
Chromosome 22q11.2 deletion is frequently associated with conotruncal malformations and aortic arch anomalies. This study investigated the association of chromosome 22q11.2 deletion with clinical manifestations in four pediatric patients with persistent fifth aortic arch.
Four patients with persistent fifth aortic arch treated between July 1997 and June 2004 were included in this retrospective study. There were two girls and two boys, aged 2 days to 11.3 years, with persistent fifth aortic arch and cardiac conotruncal malformations. Chart recordings, plain chest films, two-dimensional and Doppler echocardiograms, cardiac catheterization with angiograms, surgical findings, and cytogenetic study were analyzed.
Clinically, all four patients had the cardinal phenotypic features of 22q11.2 deletion syndrome, including cardiovascular malformations (conotruncal malformations and aortic arch anomalies), abnormal facies, thymic hypoplasia, canopy anomaly of the palate (high-arched palate, rather than cleft palate), and hypocalcemia (or hypoparathyroidism). All four patients were confirmed to have chromosome 22q11.2 deletion.
Congenital conotruncal malformations, including tetralogy of Fallot with pulmonary atresia or stenosis, and aortic arch anomalies including a persistent fifth aortic arch or a right aortic arch, should lead to suspicion of chromosome 22q11.2 deletion when manifested together with any one of the other four cardinal phenotypic features.
22q11.2染色体缺失常与圆锥动脉干畸形和主动脉弓异常相关。本研究调查了4例永存第五主动脉弓小儿患者中22q11.2染色体缺失与临床表现之间的关联。
本回顾性研究纳入了1997年7月至2004年6月间接受治疗的4例永存第五主动脉弓患者。其中有2名女孩和2名男孩，年龄从2天至11.3岁，患有永存第五主动脉弓和心脏圆锥动脉干畸形。分析病历记录、胸部平片、二维及多普勒超声心动图、心导管血管造影、手术所见及细胞遗传学研究结果。
临床上，所有4例患者均具有22q11.2缺失综合征的主要表型特征，包括心血管畸形（圆锥动脉干畸形和主动脉弓异常）、面容异常、胸腺发育不全、腭裂（高拱腭，而非腭裂）及低钙血症（或甲状旁腺功能减退）。所有4例患者均确诊存在22q11.2染色体缺失。
先天性圆锥动脉干畸形，包括法洛四联症合并肺动脉闭锁或狭窄，以及主动脉弓异常，包括永存第五主动脉弓或右位主动脉弓，当与其他四个主要表型特征中的任何一个同时出现时，均应怀疑存在22q11.2染色体缺失。
