Abstract 3280: Impact of Genetic Syndromes on Surgical Outcome of Conotruncal Heart Defects
Objectives: Evaluate the impact of genetic syndromes on surgical outcome of conotruncal heart defects in infancy.
Methods: Retrospective rewiew of 787 consecutive pts (median age 5.1 months), who underwent primary or staged repair of conotruncal heart defects between January 1995 and December 2005, including tetralogy of Fallot, double oulet right ventricle, pulmonary atresia-VSD, interrupted aortic arch and truncus arteriosus. Total follow-up was 3055 pt-years (mean 47 months) and was 99% complete and updated.
Results: Genetic syndromes were documented in 221 pts (28.1%), including del22q11 (72), trisomy 21 (28), VACTERL (35) and others (86). Mean ICU stay was 9.5±2.4 days in syndromic pts and 4.9±1.1 days for non-syndromic pts (p=0.017). Actuarial survival at 10.4 years was 90.1±2.3% in non-syndromic pts and 74.3±4.2% in syndromic pts (p=0.0009). Ten-year survival was 81.1±2.1% for del22q11 pts, 96.3±3.6% for Down’s pts, 63.6±14.5% for VACTERL pts and 70.5±5.3% for pts with other genetic syndromes (p=0.022). Freedom from reintervention was 81.7±1.8% at 10.4 years in non-syndromic pts and 64.7±7.2% in syndromic pts (p=0.0047). Presence of genetic syndrome other than trisomy 21 (p=0.017) was an indipendent predictor of mortality by Cox proportional hazard. Del22q11 was identified as a risk factor for hospital mortality in patients with interrupted aortic arch and pulmonary atresia-VSD (odd ratio 2.4, p=0.03).
Conclusions: Genetic syndromes other than trisomy 21 adversely affect the surgical outcome of conotruncal heart defects. Del22q11 may influence surgical results in children with pulmonary atresia-VSD or interrupted aortic arch. Mid-term freedom from reinterventions in syndromic patients is lower than that observed in non-syndromic children.