The Impact of 22q11.2 Deletion Syndrome on Surgical Repair Outcomes of Conotruncal Cardiac Anomalies

Abstract

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.