PMCID: PMC5408629 DOI: 10.14503/THIJ-16-5819
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.
Texas Heart Institute journal / from the Texas Heart Institute of St. Luke's Episcopal Hospital, Texas Children's Hospital
Abnormalities, Multiple; Aortic Coarctation; Aortography; CHARGE Syndrome; Computed Tomography Angiography; Humans; Infant, Newborn; Male; Treatment Outcome; Vascular Ring
normalities, multiple/diagnosis/genetics; CHARGE syndrome/genetics/pathology; aorta, thoracic/abnormalities/diagnostic imaging; aortic coarctation/complications/diagnostic imaging/surgery; cardiac surgical procedures; heart defects, congenital/genetics; infant; tomography, x-ray computed; treatment outcome
Wagner JB, Knowlton JQ, Pastuszko P, Shah SS. A Rare Case of Vascular Ring and Coarctation of the Aorta in Association with CHARGE Syndrome. Tex Heart Inst J. 2017;44(2):138-140. Published 2017 Apr 1. doi:10.14503/THIJ-16-5819