Int J Cardiol. 2010 Jun 11;141(3):e47-50. doi: 10.1016/j.ijcard.2008.11.153. Epub 2009 Jan 10.
A 1-day-old baby boy was referred from a local obstetric clinic due to feeble crying, tachypnea, and tachycardia. Two-dimensional echocardiography with Doppler and multidetector computer tomography showed mirror-image type D interrupted aortic arch, conotruncal ventricular septal defect, and patent ductus arteriosus. Emergency cardiac surgery by a biventricular Norwood procedure was performed to relieve his symptom and sign of congestive heart failure successfully. Thymus could not be seen by surgical exploration of the superior mediastinum. Serum C-terminal parathyroid hormone was decreased to less than the normal lower limit. Cytogenetic analysis and fluorescence in situ hybridization study of blood revealed a deletion in chromosome 22q11.2. To the best of our knowledge, mirror-image type D interrupted aortic arch has never been reported in patients with the del22q11.2 syndrome in the English literature. This unusual aortic arch anomaly may provide us a new perspective in the spectrum of cardiovascular malformations in the del22q11.2 syndrome and advocate 22q11.2 deletion as one of the genetic causes of some rare aortic arch anomalies and their correspondent mirror-images.
一名 1 日龄男婴因哭声微弱、呼吸急促和心动过速，从当地产科诊所转来。二维超声心动图结合多普勒和多排计算机断层扫描显示镜像型 D 型主动脉弓中断、圆锥动脉干间隔缺损和动脉导管未闭。通过双心室 Norwood 手术进行紧急心脏手术，成功缓解充血性心力衰竭的症状和体征。通过对纵隔上部的手术探查，未能看到胸腺。血清 C 末端甲状旁腺激素降至低于正常值下限。血液的细胞遗传学分析和荧光原位杂交研究显示染色体 22q11.2 缺失。据我们所知，镜像型 D 型主动脉弓中断在英文文献中从未在 del22q11.2 综合征患者中报道过。这种不常见的主动脉弓异常可能为我们提供了一个新的视角，即 del22q11.2 综合征中心血管畸形的范围，并提倡 22q11.2 缺失是一些罕见的主动脉弓异常及其相应镜像的遗传原因之一。
