22q11.2 Deletion syndrome is associated with perioperative outcome in tetralogy of Fallot

J Thorac Cardiovasc Surg. 2013 Oct;146(4):868-73. doi: 10.1016/j.jtcvs.2012.12.028. Epub 2013 Jan 11.


Objective: We sought to investigate the impact of 22q11.2 deletion on perioperative outcome in tetralogy of Fallot.

Methods: We conducted a retrospective review of patients with tetralogy of Fallot who underwent complete surgical reconstruction at The Children's Hospital of Philadelphia between 1995 and 2006. Inclusion criteria included diagnosis of tetralogy of Fallot and known genotype. Fisher exact and Mann-Whitney tests were used for categoric and continuous variables, respectively. Regression analysis was used to determine whether deletion status predicts outcome.

Results: We studied 208 subjects with tetralogy of Fallot, 164 (79%) without and 44 (20%) with 22q11.2 deletion syndrome. There were no differences in sex, race, gestational age, age at diagnosis, admission weight, and duration of mechanical ventilation. Presenting anatomy, survival, complications and reoperations were also comparable between patients with and without 22q11.2 deletion syndrome. Those with 22q11.2 deletion syndrome had more aortopulmonary shunts preceding complete surgical repair (21% vs 7%, P = .02). This association was present after adjustment for presenting anatomy (stenosis, atresia, or absence of pulmonary valve and common atrioventricular canal) and surgical era. In addition, those with 22q11.2 deletion syndrome had longer cardiopulmonary bypass time (84 vs 72 minutes, P = .02) and duration of intensive care (6 vs 4 days, P = .007).

Conclusions: Genotype affects early operative outcomes in tetralogy of Fallot resulting, in particular, in longer duration of intensive care. Future studies are required to determine factors contributing to such differences in this susceptible population.

Keywords: 20; 22q11.2 deletion syndrome; 22q11.2DS; CPB; ND; RV; TOF; VSD; cardiopulmonary bypass; nondeleted; right ventricular; tetralogy of Fallot; ventricular septal defect.

MeSH terms

  • Age Factors
  • Cardiac Surgical Procedures* / adverse effects
  • Cardiac Surgical Procedures* / mortality
  • Cardiopulmonary Bypass
  • Chromosomes, Human, Pair 22*
  • DiGeorge Syndrome / complications*
  • DiGeorge Syndrome / diagnosis
  • DiGeorge Syndrome / genetics
  • DiGeorge Syndrome / mortality
  • Female
  • Genetic Predisposition to Disease
  • Hospitals, Pediatric
  • Humans
  • Infant
  • Infant, Newborn
  • Intensive Care Units, Pediatric
  • Length of Stay
  • Male
  • Multivariate Analysis
  • Philadelphia
  • Retrospective Studies
  • Risk Factors
  • Tetralogy of Fallot / complications
  • Tetralogy of Fallot / diagnosis
  • Tetralogy of Fallot / mortality
  • Tetralogy of Fallot / surgery*
  • Time Factors
  • Treatment Outcome