Wagner Jonathan B, Knowlton Joshua Q, Pastuszko Peter, Shah Sanket S
Tex Heart Inst J. 2017 Apr 1;44(2):138-140. doi: 10.14503/THIJ-16-5819. eCollection 2017 Apr.
A male neonate presented with CHARGE syndrome, a multiorgan genetic disorder involving the Coloboma of the eyes, congenital Heart defects, nasal choanal Atresia, growth and development Retardation, Genitourinary disorders, and Ear anomalies and deafness. Moreover, he had a rare case of vascular ring-consisting of a right aortic arch with retroesophageal brachiocephalic artery-combined with coarctation of the mid-aortic arch. He underwent both vascular ring and aortic arch repair at our institution. To our knowledge, this is the 4th documented case of this exceedingly rare type of aortic arch anomaly combined with aortic arch obstruction. Moreover, it is the first confirmed case of these combined disorders occurring in CHARGE syndrome. This report describes a truly rare case and reveals the limitations of echocardiography in detecting complex aortic arch anomalies while illustrating the benefits of advanced imaging prior to surgical intervention.
一名男性新生儿患有CHARGE综合征，这是一种多器官遗传性疾病，包括眼部缺损、先天性心脏缺陷、鼻后孔闭锁、生长发育迟缓、泌尿生殖系统疾病以及耳部异常和耳聋。此外，他还患有罕见的血管环病例——由右主动脉弓和食管后头臂动脉组成——并伴有主动脉弓中段缩窄。他在我们机构接受了血管环和主动脉弓修复手术。据我们所知，这是第四例有文献记载的这种极其罕见的主动脉弓异常合并主动脉弓梗阻类型的病例。此外，这是第一例在CHARGE综合征中发生这些合并疾病的确诊病例。本报告描述了一个真正罕见的病例，揭示了超声心动图在检测复杂主动脉弓异常方面的局限性，同时说明了手术干预前先进成像的益处。
