Outcomes of the subgroup with 22q11.2 deletion syndrome (Table 5):
22q11.2 deletion syndrome was present in 820 (27.2%) patients with truncus arteriosus who had a surgical repair. Patients with 22q11.2 deletion syndrome had significantly prolonged median length of stay (32 days [IQR: 19–53] compared to 22 days [IQR: 12–37], p < 0.001) and this was associated with significant increase in median cost of hospitalization ($382,621 [IQR $231,360–$657,527] versus $273,713 [IQR $163,272–$522,615], p < 0.001). Lower mortality rates were observed in the 22q11.2 deletion syndrome group (8.3% versus 11.7%, p = 0.007). The two groups (22q11.2 deletion and no-22q11.2 deletion) had similar baseline characteristics and comorbidities. Low birth weight, prematurity (gestational age <37 weeks) were present in similar frequency in both groups. Similarly, ECMO, cardiopulmonary resuscitation, mechanical ventilation, and cardiac catheterization procedures were utilized at a similar rate in both groups.
Of significance, the study finds that patients with 22q11.2 deletion syndrome had a higher incidence of non-cardiac anomalies. More airway anomalies were present in the 22q11.2 deletion group (10.9% vs. 5.9%, OR = 1.94, 95% CI: 1.47–2.58, p < 0.001), chromosomal anomalies other than 22q11.2 deletion were present at higher frequency (7.3% vs. 3.7%, p < 0.001). In association with these comorbidities, we observed that tracheostomy and G-tube placement were performed more frequently in the 22q11.2 deletion group (5.4% vs. 2.7%, OR = 2.05, 95% CI: 1.37–3.05, p < 0.001, and 12.9% vs. 4.5%, OR = 3.13, 95% CI: 2.35–4.18, p = 0.001, respectively). Kidney anomalies, acute kidney injury, venous thrombosis, necrotizing enterocolitis, and pulmonary hypertension were present in similar frequency in both groups (Table 5).