Vascular abnormalities in the head and neck area in velocardiofacial syndrome

Background: Velocardiofacial syndrome (VCFS) is a disorder commonly associated with a characteristic facial appearance, congenital heart disease, and velopharyngeal insufficiency. An association with vascular anomalies in the cervical area and skull base has been reported. In this study, we evaluated 7 consecutive patients who received vascular imaging for preoperative planning of velopharyngeal surgery. Methods: From January 1996 to September 1997, 7 patients with VCFS were found in 1 of the senior author's service. All had documented velopharyngeal insufficiency and visible pulsations over the posterior pharyngeal wall by nasoendoscopy. Two patients had magnetic resonance angiography (MRA), 2 patients had computed tomographic angiography (CTA), and 3 patients had both. Results: The angiographic study revealed abnormalities of the carotid and vertebral arteries in 5 patients (71%). Kinking and tortuosity of the internal carotid artery and its medial displacement were common. The observed pulsations did not correlate well with the angiographic findings. For surgical correction of the velopharyngeal sufficiency, a regular pharyngeal flap was used in 4 patients, a modified pharyngeal flap was used in 2 patients, and the surgery was abandoned in the remaining 1 patient. Conclusions: Expression of cervical vascular anomalies in VCFS was varied and did not correlate well with the observed pulsations from the nasopharyngoscopic examination. Preoperative vascular imaging study is essential for the purpose of planning and safety of surgical interventions in this area.