The Impact of 22q11.2 Microdeletion on Cardiac Surgery Postoperative Outcome

Abstract

22q11.2 microdeletion is the most common microdeletion in humans. The purpose of this study was to evaluate postoperative outcome in children with 22q11.2 microdeletion who had undergone complete surgical correction of a congenital heart defect. The study included 34 patients who underwent complete correction of conotruncal heart defects. Of these, 17 patients diagnosed with 22q11.2 microdeletion represent the investigated group. Another 17 patients without 22q11.2 microdeletion represent the control group. Investigated and control groups differ significantly for total length of stay in the hospital (average 37.35 and 14.12 days, respectively); length of postoperative stay in the intensive care unit (average 10.82 and 6.76 days, respectively); sepsis (eight and two patients, respectively); administration of antibiotics (15 and seven patients, respectively); duration of antibiotic therapy (average 17.65 and 14.59 days, respectively); occurrence of hypocalcemia (16 and 0 patients, respectively); and initiation of peroral nutrition during the postoperative course (average 10.29 and 3.88 days, respectively). No difference was found for duration of ventilatory support (average 6.12 and 4.24 days, respectively), administration of total parenteral nutrition, and postoperative mortality rate. The study results suggest that genotype of 22q11.2 microdeletion affects postoperative outcome after cardiac surgery. Possible targets for intervention in postoperative intensive care management are prevention and treatment of systemic infections, monitoring, and treatment of hypocalcemias, rational administration of antibiotics and careful planning of nutrition. Consequently, this could shorten patients' intensive care stay and overall duration of hospitalization.

Outcomes of truncus arteriosus repair and predictors of mortality

“…The second main finding in this study was the presence of an inverse risk of death associated with 22q11.2 deletion syndrome despite having higher percentage of patients of Hispanic race and fewer patients with private insurance. Many researchers have examined the operative mortality in truncus arteriosus and some have found that 22q11.2 deletion syndrome does not necessarily increase surgical risk, 14‐16 while others reveal that 22q11.2 deletion is a significant risk factor for late mortality 17,18 . However, the results of our study are in agreement with the results of a study by Michielon et al 19 which found that 22q11.2 deletion syndrome was an inverse risk for death in patients with truncus arteriosus.…”

22q11.2 deletion syndrome and congenital heart disease

“…In all three cohorts (tetralogy of Fallot, interrupted aortic arch, truncus arteriosus), these differences in outcome were not explained by the presence of major additional congenital anomalies, frequency of infections or use of nasogastric feeds, as one might have predicted. More recently, both Cuturilo et al () and Alsoufi et al () reported longer length of hospital stays, longer stays in the intensive care unit and/or longer use of mechanical ventilation, among other findings in the subset with a 22q11.2 deletion.…”

“…feeds, as one might have predicted. More recently, bothCuturilo et al (2017) andAlsoufi et al (2017) reported longer length of hospital stays, longer stays in the intensive care unit and/or longer use of mechanical ventilation, among other findings in the subset with a 22q11.2 deletion.Thus, it is clear that cardiac patients with a 22q11.2 deletion at…”

Consideraciones anestésicas enpacientes con microdeleción del cromosoma 22q11

“…Para estudiar las complicaciones posoperatorias en corrección de cardiopatías congénitas Cuturilo et al [37] evaluaron pacientes con y sin MD22q11.2. La muestra se compuso por 17 casos y 17 controles, todos con cardiopatías similares entre ambos grupos.…”