Management and outcomes of heterotaxy syndrome associated with pulmonary atresia or pulmonary stenosis

Background Historic outcomes of patients with heterotaxy and pulmonary atresia or pulmonary stenosis (PA/PS) have been poor and in the current era are incompletely described. We reviewed our management of these patients and associated risk factors for death. Methods We retrospectively reviewed the records of all patients with heterotaxy and PA/PS treated in our institution from January 1, 2002, to August 31, 2012. Death data were also confirmed with the Social Security Death Index. The log-rank test was done to assess six risk factors for death. Results We identified 42 patients with heterotaxy and PA/PS. Median age at the first operation was 6.5 days, and median follow-up was 3.5 years. Death data were complete for all patients. Overall mortality was 19% (8 of 42). The 30-day, 1-year, and 5-year mortality estimation was 4.76%, 12.3%, and 19.1% respectively, as determined by the Kaplan-Meier method. The log-rank test showed total anomalous pulmonary venous return (TAPVR) (p < 0.05) and obstructed TAPVR requiring an operation at less than 30 days (p = 0.001) were significant risk factors for death. Conclusions In the current era, surgical treatment of heterotaxy and PA/PS can result in good outcomes. Associated TAPVR and obstructed TAPVR requiring neonatal correction were noted to be risk factors for death.