Division of Cardiology, Department of Pediatrics, The Children's Hospital of Philadelphia and the University of Pennsylvania Perelman School of Medicine, Philadelphia, Pa.
J Thorac Cardiovasc Surg. 2013 Oct;146(4):868-73. doi: 10.1016/j.jtcvs.2012.12.028. Epub 2013 Jan 11.
We sought to investigate the impact of 22q11.2 deletion on perioperative outcome in tetralogy of Fallot.
We conducted a retrospective review of patients with tetralogy of Fallot who underwent complete surgical reconstruction at The Children's Hospital of Philadelphia between 1995 and 2006. Inclusion criteria included diagnosis of tetralogy of Fallot and known genotype. Fisher exact and Mann-Whitney tests were used for categoric and continuous variables, respectively. Regression analysis was used to determine whether deletion status predicts outcome.
We studied 208 subjects with tetralogy of Fallot, 164 (79%) without and 44 (20%) with 22q11.2 deletion syndrome. There were no differences in sex, race, gestational age, age at diagnosis, admission weight, and duration of mechanical ventilation. Presenting anatomy, survival, complications and reoperations were also comparable between patients with and without 22q11.2 deletion syndrome. Those with 22q11.2 deletion syndrome had more aortopulmonary shunts preceding complete surgical repair (21% vs 7%, P = .02). This association was present after adjustment for presenting anatomy (stenosis, atresia, or absence of pulmonary valve and common atrioventricular canal) and surgical era. In addition, those with 22q11.2 deletion syndrome had longer cardiopulmonary bypass time (84 vs 72 minutes, P = .02) and duration of intensive care (6 vs 4 days, P = .007).
Genotype affects early operative outcomes in tetralogy of Fallot resulting, in particular, in longer duration of intensive care. Future studies are required to determine factors contributing to such differences in this susceptible population.
我们旨在研究 22q11.2 缺失对法洛四联症患者围手术期结局的影响。
我们对 1995 年至 2006 年间在费城儿童医院接受完全手术重建的法洛四联症患者进行了回顾性研究。纳入标准包括法洛四联症的诊断和已知的基因型。采用 Fisher 确切检验和 Mann-Whitney 检验分别对分类变量和连续变量进行分析。采用回归分析确定缺失状态是否预测结局。
我们研究了 208 例法洛四联症患者，其中 164 例（79%）无 22q11.2 缺失综合征，44 例（20%）有 22q11.2 缺失综合征。两组患者在性别、种族、胎龄、诊断年龄、入院体重和机械通气时间方面均无差异。两组患者的临床表现、存活率、并发症和再次手术也无差异。但有 22q11.2 缺失综合征的患者在完全手术修复前更常进行体肺分流术（21% vs 7%，P = 0.02）。在调整临床表现（狭窄、闭锁或无肺动脉瓣和共同房室管）和手术时代后，这种关联仍然存在。此外，有 22q11.2 缺失综合征的患者体外循环时间更长（84 分钟 vs 72 分钟，P = 0.02），重症监护时间更长（6 天 vs 4 天，P = 0.007）。
基因型影响法洛四联症患者的早期手术结局，尤其是重症监护时间更长。未来的研究需要确定导致这一易感人群出现这种差异的因素。
