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

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.

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