Genetic syndromes and outcome after surgical correction of tetralogy of fallot

Background. Genetic syndromes occur in 20% of patients with tetralogy of Fallot (TOF). The impact of genetic syndromes on surgical repair of TOF in infancy is still under investigation. Methods. This retrospective study reviews the outcome of 306 consecutive patients (median age, 5.1 months) who underwent primary (266) or staged (40) repair of TOF between 1994 and 2004. Total follow-up was 1,188 patient-years (mean, 57 months). Results. Genetic syndromes were documented in 85 patients (27.8%), including 22q11 deletion (27), trisomy 21 (13), vertebral, anal, cardiac, tracheoesophageal, renal, and limb abnormalities (VACTERL, 12), and others (33). Hypoplastic pulmonary arteries (PA) were more common in syndromic (19/85 = 22.3%) than nonsyndromic TOF (20/221 = 9.04%) (p <0.001). Primary repair was performed in 82.4% syndromic and 88.7% nonsyndromic TOF (p = not significant [NS]). Ten-year actuarial survival was 94.1 ± 2.3% in nonsyndromic and 84.3 ±4.2% in syndromic TOF (p <0.001). Ten-year survival was 96.3 ± 3.6% for del22q11, 100% for trisomy 21, 63.6 ± 14.5% for VACTERL, and 78.5 ± 7.3% for patients with other syndromes (p = 0.022). Survival in syndromic TOF with normal PA anatomy was 89.6 ± 4.2% for primary repair and 85.7 ± 12.8% for staged repair (p = NS); freedom from reoperation after complete repair was 74.4 ± 6.4% for primary correction and 56.3 ± 11.9% for staged repair (p = 0.04). Cox proportional hazard identified the presence of genetic syndrome (p = 0.011) and central PA hypoplasia (p = 0.002) as independent predictors of mortality. Conclusions. Pulmonary arborization defects and genetic syndromes other than del22q11 or trisomy 21, are associated with worse outcome after correction of TOF. Primary TOF repair in syndromic patients with normal PA anatomy is a valid surgical strategy, with no additional risk for mortality and higher freedom from reintervention.