Genetic Syndromes Do Not Affect Survival but Increase Morbidity in Neonates with Symptomatic Tetralogy of Fallot

To assess associations between the presence of genetic diagnoses and survival and morbidity of patients with symptomatic tetralogy of Fallot (sTOF) requiring neonatal intervention.

We performed an analysis of a multicenter, retrospective study of sTOF patients from 2005 to 2017 from the Congenital Cardiac Research Collaborative. The primary outcome was transplant-free survival, evaluated by Cox proportional hazards regression modeling, adjusted for center, repair strategy, anatomical diagnosis, prematurity, and invasive ventilation before intervention. Genetic diagnoses were retrospectively collected from hospital records.

The study group included 572 neonates with sTOF, of whom 151 (26.4%) had an identifiable genetic diagnosis, including 22q11 deletion (n = 63, 41.7%), trisomy 21 (n = 28, 18.5%), and other genetic diagnoses (n = 60, 39.7%). At a median follow-up of 4.12 (1.53, 7.47) years, there was no significantly increased hazard ratio of death in patients with a genetic diagnosis (adjusted hazard ratio 1.71 [95% CI 0.96-3.07], P = .07). However, patients with a genetic diagnosis had longer median intensive care unit and total hospital stays ([13 vs 9 days, P < .001] and [32.5 vs 24 days, P < .001], respectively) and were more likely to be discharged with feeding tubes (OR 2.1 [95% CI 1.31-3.37], P = .002).

Neonates with sTOF with a genetic diagnosis had no significant survival difference to those without but did have a higher risk for other hospital morbidities, including longer admissions and the need for feeding tubes. Genetic testing in this population can inform clinicians and families regarding these important considerations within this congenital heart disease population.