Optimizing Safety in Velopharyngeal Insufficiency Surgery for Children with 22q11.2 Deletion Syndrome

Abstract

22q11.2 microdeletion syndrome (22q11.2DS) is a common genetic condition associated with structural and functional velopharyngeal anomalies. However, not all patients with 22q11.2DS presenting for treatment will have an established diagnosis and/or have been evaluated for critical medical comorbidities including congenital cardiovascular anomalies, bleeding diatheses, hypocalcemia, and cervical spine instability. When considering surgical management for patients with velopharyngeal insufficiency (VPI), it is imperative to be aware of the clinical features of 22q11.2DS to avoid serious morbidity and mortality. This is illustrated here with 2 case examples. First, a 10-year-old male with 22q11.2DS presented at 6 years old for treatment of VPI associated with submucous cleft palate. Preoperative computed tomographic angiography revealed right carotid artery tortuosity and retropharyngeal displacement, while intraoperative Doppler ultrasound confirmed carotid artery medialization at the base of the proposed flap. Consequently, he underwent Furlow palatoplasty instead of pharyngeal flap. Second, a 5-year-old male with 22q11.2DS presented at 4 years old for treatment of VPI. Palatal lengthening with double-opposing buccal flaps was performed to mitigate the risk for carotid artery injury, need for preoperative imaging, and risk for developing obstructive sleep apnea (OSA). Right carotid artery medialization was seen intraoperatively as marked pulsations. Both patients underwent cardiac and anesthesia evaluations prior to surgery given their histories of congenital heart defects (CHD) and prior postoperative hypocalcemia.