Publication Date
4-1-2017
Journal
The Texas Heart Journal
DOI
10.14503/THIJ-16-5819
PMID
28461801
Publication Date(s)
April 2017
Language
English
PMCID
PMC5408629
PubMedCentral® Posted Date
4-1-2017
PubMedCentral® Full Text Version
Post-Print
Published Open-Access
yes
Keywords
Abnormalities, multiple/diagnosis/genetics; aorta, thoracic/abnormalities/diagnostic imaging; aortic coarctation/complications/diagnostic imaging/surgery; cardiac surgical procedures; CHARGE syndrome/genetics/pathology; heart defects, congenital/genetics; infant; tomography, x-ray computed; treatment outcome
Copyright
This work is licensed under a Creative Commons Attribution-NonCommercial-No Derivative Works 4.0 International License.
Abstract
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.