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Introduction: Critical illness-related corticosteroid insufficiency (CIRCI) which is characterized by relative inadequate cortisol levels in relation to increased demand during periods of severe stress is common after cardiac surgery and is a cause of hemodynamic instability. The purpose of this study was to identify possible genetic abnormalities related to CIRCI in pediatric patients after congenital heart surgery. Methods: Single-center retrospective study of neonates who underwent cardiac surgery between August 2018 to July 2020. We included patients who had obtained postoperative cortisol levels and next gen DNA-sequencing (NGS) as previous standard of care. Analysis methods are displayed in Figure 1. Results: Seven gene mutations were present in 75-100% of patients with CIRCI with a 0-25% incidence of those corresponding mutations in patients in the non-CIRCI group. The CIRCI group had 100% incidence of heterozygous gene mutation on STX1A with splicing and loss of function compared to 0% incidence in the non-CIRCI group. No differences were seen in demographics between both groups. The CIRCI group with STX1A mutation had lower cortisol level and longer intensive care length of stay. There were no differences in median mixed venous oxygen saturation and vasoactive inotropic score upon immediate postoperative admission, duration of mechanical ventilation, and hospital stay compared to the non-CIRCI group without STX1A mutation. Conclusion: Rapid testing for gene mutations, specifically STX1A, has the potential to detect patients at risk for critical illness-related corticosteroid insufficiency with hemodynamic instability. Further research in larger patient cohorts is required to determine the statistical and clinical significance of these genetic abnormalities.


Cardiology | Pediatrics


Presented at the 8th World Congress of Pediatric Cardiology and Cardiac Surgery; Washington, DC; August 27th-Sept 1, 2023.

Identification of critical illness-related corticosteroid insufficiency after congenital heart surgery with next generation sequencing