{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,16]],"date-time":"2025-10-16T10:03:11Z","timestamp":1760608991324,"version":"3.28.0"},"reference-count":8,"publisher":"Texas Heart Institute Journal","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,4]]},"abstract":"<jats:p>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\u2014consisting of a right aortic arch with retroesophageal brachiocephalic artery\u2014combined with coarctation of the mid-aortic arch. He underwent both vascular ring and aortic arch repair at our institution.<\/jats:p>\n        <jats:p>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.<\/jats:p>\n        <jats:p>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.<\/jats:p>","DOI":"10.14503\/thij-16-5819","type":"journal-article","created":{"date-parts":[[2017,4,27]],"date-time":"2017-04-27T16:57:48Z","timestamp":1493312268000},"page":"138-140","source":"Crossref","is-referenced-by-count":4,"title":["A Rare Case of Vascular Ring and Coarctation of the Aorta in Association with CHARGE Syndrome"],"prefix":"10.14503","volume":"44","author":[{"given":"Jonathan B.","family":"Wagner","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joshua Q.","family":"Knowlton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Pastuszko","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sanket S.","family":"Shah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"5628","reference":[{"issue":"2","key":"i1526-6702-44-2-138-b1","series-title":"Am J Hum Genet","first-page":"303","article-title":"Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation","volume":"78","year":"2006","unstructured":"Lalani\n              SR\n            , SafiullahAM, FernbachSD, HarutyunyanKG, ThallerC, PetersonLE, \n          et al. Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet2006;78(2):303\u201314."},{"issue":"5","key":"i1526-6702-44-2-138-b2","series-title":"Pediatr Cardiol","first-page":"621","article-title":"Coarctation of the aorta in the right aortic arch with left aberrant innominate artery","volume":"27","year":"2006","unstructured":"Bein\n              S\n            , SabaZ, PatelH, ReinhartzO, HanleyFL.\n          Coarctation of the aorta in the right aortic arch with left aberrant innominate artery. Pediatr Cardiol2006;27(5):621\u20133."},{"issue":"5","key":"i1526-6702-44-2-138-b3","series-title":"Pediatr Cardiol","first-page":"1011","article-title":"A case of coarctation in a right aortic arch with an aneurysmal right subclavian artery and aberrant left brachiocephalic artery","volume":"29","year":"2008","unstructured":"McBrien\n              A\n            , PatersonA, GladstoneD, CraigB.\n          A case of coarctation in a right aortic arch with an aneurysmal right subclavian artery and aberrant left brachiocephalic artery. 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Cell Adh Migr2010;4(4):609\u201321."},{"issue":"8","key":"i1526-6702-44-2-138-b8","series-title":"Hum Genet","first-page":"997","article-title":"CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance","volume":"133","year":"2014","unstructured":"Schulz\n              Y\n            , WehnerP, OpitzL, Salinas-RiesterG, BongersEM, van Ravenswaaji-ArtsCM, \n          et al. CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance. 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