Introduction
22q11.2 deletion syndrome is the most common chromosome deletion in human. Approximately 80-90% of patients had associated cardiac lesions that may need cardiac surgeries and lead to prolonged postoperative ventilator time, ICU time, and hospital days. There were limited studies regarding risk of death and perioperative outcomes in this group of patients.
Objectives
To describe pattern of congenital heart disease, associated cardiovascular lesions and outcomes of cardiac surgeries in 22q11.2 deletion patients and determine factor related to perioperative death and prolonged ventilator/ICU/hospital time.
Methods
This retrospective study performed in 22q11.2 deletion patients who presented before 18 years of age at single-center hospital during 2000 and 2018. Inclusion criteria included diagnosis of 22q11.2 microdeletion by FISH method with cardiovascular lesions. Baseline characteristics and perioperative data were described as number (%), mean ± SD, or median (IQR) depended on data distribution. Factors related to death, postoperative prolonged ventilator time, ICU days and hospital days were analyzed by binary logistic regression.
Results:
Among 54 patients included in the study, 24 patients (44.4%) were male, median age at diagnosis was 10.6 months [IQR; 0.9, 32.3]. Common cardiac lesions were tetralogy of Fallot with pulmonary stenosis (TOF/PS), tetralogy of Fallot with pulmonary atresia (TOF/PA), ventricular septal defect (VSD), and interrupted aortic arch (IAA) (40.7%, 29.6%, 16.7%, and 5.5% respectively). Associated cardiovascular lesions were right side aortic arch, major aorto-pulmonary collateral arteries (MAPCAs), aberrant right/left subclavian artery and bilateral SVCs and (33.3%, 18.5%, 16.7%, and 13.0% respectively). Forty-four patients (81.5%) had open-heart surgery whereas 10 patients (18.5%) underwent closed heart surgeries. There were 7 postoperative death patients. Univariate logistic regression revealed patients with acute kidney failure (AKI), sepsis, septic shock, and heart failure significantly increased risk of death (p < 0.001, 0.04, 0.001, and 0.013 respectively) but the statistic was not significant when adjusted for confounding factors. By multivariate logistic regression analysis, patients with congestive heart failure were increased risk of prolonged ICU time ≥7 days (p = 0.044), while sepsis and heart congestive heart failure significantly related to prolonged hospital time ≥ 30 days (p = 0.13 and 0.028 respectively).
Conclusion:
Tetralogy of Fallot is the most common cardiac involvement in 22q11.2 deletion. Closely monitoring and early detection and treatment of postoperative sepsis, AKI and heart failure may decrease perioperative morbidity and mortality in these patients.
Keywords:
22q11.2 deletion, velocardiofacial syndrome, DiGeorge syndrome, heart defect, cardiac surgery, outcome
