Alsoufi Bahaaldin, McCracken Courtney, Shashidharan Subhadra, Deshpande Shriprasad, Kanter Kirk, Kogon Brian
Division of Cardiothoracic Surgery, Children's Healthcare of Atlanta, Emory University School of Medicine, Atlanta, Georgia.
Sibley Heart Center, Children's Healthcare of Atlanta, Emory University School of Medicine, Atlanta, Georgia.
Ann Thorac Surg. 2017 Nov;104(5):1597-1604. doi: 10.1016/j.athoracsur.2017.04.019. Epub 2017 Jun 29.
We aim to describe the impact of 22q11.2 deletion syndrome (22q11DS) on clinical characteristics, postoperative course, and early and late outcomes of neonates undergoing surgery for conotruncal anomalies.
A retrospective review was performed (2002 to 2012) of 224 neonates who underwent surgery for interrupted aortic arch (n = 67), truncus arteriosus (n = 85), or ductal-dependent pulmonary atresia and ventricular septal defect (n = 72). Patients were divided into three groups: group 1, n = 119, no genetic syndrome; group 2, n = 64, 22q11DS; and group 3, n = 41, other genetic syndrome. Adjusted analysis to compare outcomes was performed.
In comparison with group 1, group 2 had longer mechanical ventilation duration (148 versus 102 hours, p = 0.008), intensive care unit stay (268 versus 159 hours, p < 0.001), and hospital stay (19.3 versus 11.5 days, p < 0.001). On adjusted analysis, there was an insignificant increase in unplanned reoperation (odds ratio [OR] 2.4, 95% confidence interval [CI]: 0.7 to 8.4, p = 0.167) but no increased extracorporeal membrane oxygenation use (OR 1.5, 95% CI: 0.3 to 6.1, p = 0.612), hospital mortality (OR 0.6, 95% CI: 0.1 to 3.3, p = 0.570), or decreased late survival (hazard ratio 0.9, 95% CI: 0.4 to 2.1, p = 0.822). In comparison with group 1, group 3 had longer mechanical ventilation duration (190 versus 102 hours, p < 0.001), intensive care unit stay (236 versus 159 hours, p = 0.007), and hospital stay (21.5 versus 11.5 days, p < 0.001); and increased unplanned reoperation (OR 3.7, 95% CI: 1.1 to 12.5, p = 0.032), extracorporeal membrane oxygenation use (OR 4.4, 95% CI: 1.1 to 17.6, p = 0.038), hospital mortality (OR 4.2, 95% CI: 1.2 to 14.5, p = 0.021), and diminished late survival (hazard ratio 4.0, 95% CI: 2.1 to 8.1, p < 0.001).
In neonates with conotruncal anomalies, 22q11DS is associated with prolonged recovery and increased resource utilization. However, despite a small increase in unplanned reoperation, there is no significant impact on early or late survival. In comparison, other genetic syndromes are associated with increased unplanned reoperation, extracorporeal membrane oxygenation use, hospital mortality, and diminished late survival. These findings are important for family counseling and risk stratification.
我们旨在描述22q11.2缺失综合征（22q11DS）对患有圆锥动脉干畸形的新生儿的临床特征、术后病程以及早期和晚期结局的影响。
对2002年至2012年期间接受手术治疗的224例新生儿进行回顾性研究，这些新生儿患有主动脉弓中断（n = 67）、动脉干（n = 85）或导管依赖型肺动脉闭锁合并室间隔缺损（n = 72）。患者分为三组：第1组，n = 119，无遗传综合征；第2组，n = 64，22q11DS；第3组，n = 41，其他遗传综合征。进行了比较结局的校正分析。
与第1组相比，第2组的机械通气时间更长（148小时对102小时，p = 0.008）、重症监护病房住院时间更长（268小时对159小时，p < 0.001）以及住院时间更长（19.3天对11.5天，p < 0.001）。在校正分析中，计划外再次手术有不显著的增加（比值比[OR] 2.4，95%置信区间[CI]：0.7至8.4，p = 0.167），但体外膜肺氧合的使用没有增加（OR 1.5，95%CI：0.3至6.1，p = 0.612），医院死亡率没有增加（OR 0.6，95%CI：0.1至3.3，p = 0.570），晚期生存率也没有降低（风险比0.9，95%CI：0.4至2.1，p = 0.822）。与第1组相比，第3组的机械通气时间更长（190小时对102小时，p < 0.001）、重症监护病房住院时间更长（236小时对159小时，p = 0.007）以及住院时间更长（21.5天对11.5天，p < 0.001）；计划外再次手术增加（OR 3.7，95%CI：1.1至12.5，p = 0.032），体外膜肺氧合的使用增加（OR 4.4，95%CI：1.1至17.6，p = 0.038），医院死亡率增加（OR 4.2，95%CI：1.2至14.5，p = 0.021），晚期生存率降低（风险比4.0，95%CI：2.1至8.1，p < 0.001）。
在患有圆锥动脉干畸形的新生儿中，22q11DS与恢复时间延长和资源利用增加有关。然而，尽管计划外再次手术略有增加，但对早期或晚期生存率没有显著影响。相比之下，其他遗传综合征与计划外再次手术增加、体外膜肺氧合的使用增加、医院死亡率增加以及晚期生存率降低有关。这些发现对于家庭咨询和风险分层很重要。
