title: Genetic syndromes and outcome after surgical repair of pulmonary atresia and ventricular septal defect.
abstract: BACKGROUND
  Genetic syndromes, especially 22q11 deletion (del22q11) syndrome, are common in patients with pulmonary atresia and ventricular septal defect (PA-VSD), but their association with long-term outcomes varies. The purpose of this study was to evaluate the long-term outcome after complete repair of PA-VSD and to determine the impact of genetic syndromes.
  
  
  METHODS
  We reviewed our experience of 125 patients with PA-VSD who received primary or staged repair between 1978 and 2010. Evaluations for genetic syndromes included clinical features, cytogenetic analysis, and fluorescence in situ hybridization or multiplex ligation-dependent probe amplification.
  
  
  RESULTS
  Genetic syndromes were documented in 26 patients (20.8%), including del22q11 in 16 patients, trisomy 21 in 2 patients, and other syndromes in 8 patients. The prevalence of hypoplastic pulmonary arteries was not significantly different between the syndromic and nonsyndromic groups. After 1,069 patient-years of follow-up, 20-year survival was 90% ± 6% in patients without syndromes and 14% ± 23% in patients with syndromes (p < 0.01). Multivariate analysis identified the presence of a genetic syndrome as an important risk factor for hospital and late mortality. Subgroup analysis showed that genetic syndromes other than del22q11 were associated with worse outcome. The rate of 10-year freedom from cardiac reintervention after repair was 53% ± 11%, with hypoplastic pulmonary arteries before repair as a major risk factor (p = 0.02).
  
  
  CONCLUSIONS
  Genetic syndromes significantly affect survival after repair of PA-VSD, whereas genetic syndromes do not represent additional risk for reintervention. Repair is feasible in patients with syndromes, but suboptimal long-term outcome should be addressed when counseling parents.
authors.affiliation: Department of Pediatrics, Shin Kong Wu Ho-Su Memorial Hospital, Taipei, Taiwan.
authors.forename: Meng-Yu
authors.initials: MY
authors.lastname: Chen
authors.forename: Shuenn-Nan
authors.initials: SN
authors.lastname: Chiu
authors.forename: Jou-Kou
authors.initials: JK
authors.lastname: Wang
authors.forename: Chun-Wei
authors.initials: CW
authors.lastname: Lu
authors.forename: Ming-Tai
authors.initials: MT
authors.lastname: Lin
authors.forename: Chung-I
authors.initials: CI
authors.lastname: Chang
authors.forename: Ing-Sh
authors.initials: IS
authors.lastname: Chiu
authors.forename: Yih-Sharng
authors.initials: YS
authors.lastname: Chen
authors.forename: Shyh-Jye
authors.initials: SJ
authors.lastname: Chen
authors.forename: Mei-Hwan
authors.initials: MH
authors.lastname: Wu
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006345:Heart Septal Defects, Ventricular / Q000235:genetics* / Q000401:mortality / Q000601:surgery*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D018633:Pulmonary Atresia / Q000235:genetics* / Q000401:mortality / Q000601:surgery*; D012189:Retrospective Studies; D012307:Risk Factors; D015996:Survival Rate; D013577:Syndrome; D013997:Time Factors; D016896:Treatment Outcome; D055815:Young Adult