Vascular Abnormalitis in the Head and Neck Area in Velocardiofacial Syndrome

背景:?心面徵候群是顎裂患者最常發生的徵候群，這群病患常有臉部的特徵合併先天性心臟病及顎咽閉鎖不全等症狀。曾有文獻報告合併顎部及顱部血管變異，但未有同時以核磁共振血管攝影術與三度空間立體血管攝影術檢測這些異常的研究，故以7位診斷為?心面徵候群患者顎咽手術前之血管攝影檢查做血管異常三度空間立體關係之研究。 方法:1996年至1997年間資深主治醫師的病患中有7位病人診斷為此徵候群。所有病人因為顎咽閉鎖不全皆接受鼻咽鏡檢查，且發現其咽喉後壁皆呈現強裂脈搏跳動。7位病人中有2位接受核磁共振血管攝影術，兩位接受電斷層血管攝術檢查瑯頭頸部的血管，有3位兩項檢查都做。 結果:血管攝影術發現7人中只有5人之頸動脈或脊推動脈系統發生異常(71%)，3人有內頸動脈在顎部往內偏移之現象，甚至有1人內移現象嚴重影響咽喉後壁手術之進行，必須變更手術方式以維患者安全。 結論:根據本篇報告研究顯示，?心面徵候群患者出現頸部大血管異常的比例甚高，但頸動脈內移的現象並未與鼻咽鏡檢觀察到之咽喉後壁博動現象呈相關關係。然而?心面徵候群患者接受咽喉部手術前利用核磁共血管攝影檢查頸部血管，仍有其重要性。
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 bse has been reported. In this study, we evaluated 7 consecutive patients who received vscular imaging for preoperative planning of velopharyngeal surgery. Methods: From Jaunary 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 phanyngeal 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 medical 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 patents, 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 safely of surgical interventions in this area.