A 3 year-old with a history of cleft palate and a seizure during the neonatal period presents for anesthesia for a brain MRI as part of the ongoing work up of his delayed speech and motor development. You note a harsh, holosystolic murmur. Is an echocardiogram prior to anesthesia important for this patient?
a) Yes
b) No
Answer a. The chromosome 22q11.2 deletion syndrome (velocardiofacial or DiGeorge syndrome) occurs in 1 in 3,000 children. Associated phenotypes include abnormal facies, cleft palate, thymic hypoplasia and T-cell immunodeficiency, hypocalcemia and cardiac defects. Conotruncal anomalies and outflow tract anomalies are frequent but myriad cardiac defects may occur and the majority of children with this syndrome have some cardiac defect. T-cell immunodeficiency requires strict aseptic technique for line placement and use of irradiated blood for transfusion. Hypocalcemia is common at birth, and may cause neonatal seizures. Learning and behavioral disorders are common but may not be recognized until school age.