A rare case of vascular ring and coarctation of the aorta in association with charge syndrome

Jonathan B. Wagner, Joshua Q. Knowlton, Peter Pastuszko, Sanket S. Shah

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

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 retro-esophageal 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.

Original languageEnglish
Pages (from-to)138-140
Number of pages3
JournalTexas Heart Institute Journal
Volume44
Issue number2
DOIs
StatePublished - Apr 2017
Externally publishedYes

Keywords

  • Abnormalities
  • Aorta
  • Aortic coarctation/complications/diagnostic imaging/ surgery
  • CHARGE syn-drome/genetics/pathology
  • Cardiac surgical procedures
  • Congenital/ genetics
  • Heart defects
  • Infant
  • Multiple/diagnosis/genet-ics
  • Thoracic/abnor-malities/diagnostic imaging
  • Tomography
  • Treatment outcome
  • X-ray computed

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