Literature DB >> 28461801

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.   

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.

Entities:  

Keywords:  Abnormalities, 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

Mesh:

Year:  2017        PMID: 28461801      PMCID: PMC5408629          DOI: 10.14503/THIJ-16-5819

Source DB:  PubMed          Journal:  Tex Heart Inst J        ISSN: 0730-2347


  8 in total

1.  A case of coarctation in a right aortic arch with an aneurysmal right subclavian artery and aberrant left brachiocephalic artery.

Authors:  Angela McBrien; Annie Paterson; Dennis Gladstone; Brian Craig
Journal:  Pediatr Cardiol       Date:  2008-07-02       Impact factor: 1.655

Review 2.  Factors controlling cardiac neural crest cell migration.

Authors:  Margaret L Kirby; Mary R Hutson
Journal:  Cell Adh Migr       Date:  2010 Oct-Dec       Impact factor: 3.405

3.  Coarctation of the aorta in the right aortic arch with left aberrant innominate artery.

Authors:  Shelli Bein; Ziad Saba; Hitendra Patel; Olaf Reinhartz; Frank L Hanley
Journal:  Pediatr Cardiol       Date:  2006-08-23       Impact factor: 1.655

4.  Association of chromosome 22q11 deletion with isolated anomalies of aortic arch laterality and branching.

Authors:  D B McElhinney; B J Clark; P M Weinberg; M L Kenton; D McDonald-McGinn; D A Driscoll; E H Zackai; E Goldmuntz
Journal:  J Am Coll Cardiol       Date:  2001-06-15       Impact factor: 24.094

Review 5.  Congenital obstructive lesions of the right aortic arch.

Authors:  D B McElhinney; W Tworetzky; F L Hanley; A M Rudolph
Journal:  Ann Thorac Surg       Date:  1999-04       Impact factor: 4.330

6.  Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.

Authors:  Seema R Lalani; Arsalan M Safiullah; Susan D Fernbach; Karine G Harutyunyan; Christina Thaller; Leif E Peterson; John D McPherson; Richard A Gibbs; Lisa D White; Margaret Hefner; Sandra L H Davenport; John M Graham; Carlos A Bacino; Nancy L Glass; Jeffrey A Towbin; William J Craigen; Steven R Neish; Angela E Lin; John W Belmont
Journal:  Am J Hum Genet       Date:  2005-12-29       Impact factor: 11.025

7.  CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance.

Authors:  Yvonne Schulz; Peter Wehner; Lennart Opitz; Gabriela Salinas-Riester; Ernie M H F Bongers; Conny M A van Ravenswaaij-Arts; Josephine Wincent; Jacqueline Schoumans; Jürgen Kohlhase; Annette Borchers; Silke Pauli
Journal:  Hum Genet       Date:  2014-04-13       Impact factor: 4.132

8.  One-stage repair of aberrant left brachiocephalic artery and coarctation of the aorta in right aortic arch.

Authors:  Fabrizio Gandolfo; Sonia B Albanese; Aurelio D M Secinaro; Adriano Carotti
Journal:  Interact Cardiovasc Thorac Surg       Date:  2013-05-10
  8 in total

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