Ziolkowska Lidia, Kawalec Wanda, Turska-Kmiec Anna, Krajewska-Walasek Malgorzata, Brzezinska-Rajszys Grazyna, Daszkowska Jadwiga, Maruszewski Bogdan, Burczynski Piotr
Department of Pediatric Cardiology, The Children's Memorial Health Institute, Warsaw, Poland.
Eur J Pediatr. 2008 Oct;167(10):1135-40. doi: 10.1007/s00431-007-0645-2. Epub 2008 Jan 3.
The association of conotruncal heart defects with 22q11.2 chromosomal microdeletions is well established. However, it is not clear whether particular types of conotruncal malformations or additional cardiovascular anomalies are associated with microdeletions. In addition, cardiac surgery outcome in children with conotruncal defects and del22q11.2 is not well described. We prospectively enrolled 214 children with conotruncal defects: 126 with tetralogy of Fallot (TOF), 18 with pulmonary atresia-ventricular septal defect (PA-VSD), 15 with truncus arteriosus communis (TAC) type I, one with interrupted aortic arch (IAA) type B, and 54 with the transposition of great arteries, who were consecutively hospitalized at the Pediatric Cardiology Department between 2003 and 2005. 22q11.2 microdeletion was identified by fluorescence in situ hybridization. The postoperative course following cardiac surgery was compared in patients with TOF and its more severe form, PA-VSD, with/without del22q11.2 (groups A and B) and TAC with/without del22q11.2 (groups C and D). In 15 of 214 patients, 22q11.2 microdeletion was diagnosed (in 11 with TOF/PA-VSD, in three with TAC, in one with IAA type B). In patients with TOF/PA-VSD and microdeletion anatomic features that were significantly associated with 22q11.2, deletion included right aortic arch (p = 0.018), aberrant right subclavian artery (p < 0.001), and major aortopulmonary collateral arteries (p = 0.016). A complicated postoperative course was more frequent and mortality was higher in patients with conotruncal defects and with/without microdeletion. We conclude that additional cardiovascular anomalies are significantly more frequent in children with 22q11.2 microdeletion and TOF/PA-VSD. Children with conotruncal heart defects and 22q11.2 microdeletion more frequently experienced complicated postoperative course after cardiac surgery.
圆锥动脉干心脏缺陷与22q11.2染色体微缺失之间的关联已得到充分证实。然而，尚不清楚特定类型的圆锥动脉干畸形或其他心血管异常是否与微缺失相关。此外，关于患有圆锥动脉干缺陷和22q11.2缺失的儿童心脏手术结果的描述并不充分。我们前瞻性地纳入了214例患有圆锥动脉干缺陷的儿童：126例法洛四联症（TOF）、18例肺动脉闭锁-室间隔缺损（PA-VSD）、15例I型共同动脉干（TAC）、1例B型主动脉弓中断（IAA）以及54例大动脉转位，这些患儿于2003年至2005年间在儿科心脏病科连续住院。通过荧光原位杂交鉴定22q11.2微缺失。比较了患有TOF及其更严重形式PA-VSD且有/无22q11.2缺失的患者（A组和B组）以及患有TAC且有/无22q11.2缺失的患者（C组和D组）心脏手术后的病程。在214例患者中，有15例被诊断出22q11.2微缺失（11例TOF/PA-VSD、3例TAC、1例B型IAA）。在患有TOF/PA-VSD和微缺失的患者中，与22q11.2缺失显著相关的解剖特征包括右位主动脉弓（p = 0.018）、迷走右锁骨下动脉（p < 0.001）以及主要的体肺侧支动脉（p = 0.016）。患有圆锥动脉干缺陷且有/无微缺失的患者术后病程复杂更为常见，死亡率更高。我们得出结论，22q11.2微缺失且患有TOF/PA-VSD的儿童中，其他心血管异常明显更为常见。患有圆锥动脉干心脏缺陷且有22q11.2微缺失的儿童心脏手术后更常经历复杂的术后病程。
