Aims22q11 Deletion Syndrome (22q11DS) or DiGeorge syndrome is commonly first considered and diagnosed at cardiac centres due to its association with several forms of congenital heart disease. Due its multi-system involvement, it is important to screen children with 22q11DS for common problems early and refer promptly. The aims of this project were to: 1. Audit our practice against any national standards of initial investigations. 2. Create a local pathway and checklist for initial management of suspected or confirmed DiGeorge syndrome.MethodsWe used the MaxAppeal (www.maxappeal.org.uk) consensus document on 22q11DS to formulate a list of standards to retrospectively audit against. We then used our local electronic patient record system to search for all children who had been admitted under cardiology with a diagnosis of 22q11DS syndrome between 2014–2018. We searched our laboratory, radiology and other electronic patient re...

G27(P) 22Q11 deletion syndrome – improving initial investigations at a tertiary cardiac centre

10.1136/archdischild-2020-rcpch.16