Document Detail

Congenital stridor and wheezing as harbingers of the del22q11.2 syndrome presenting cardiovascular malformations of right aortic arch, aberrant left subclavian artery, Kommerell's diverticulum, and left ligamentum arteriosum.
MedLine Citation:
PMID:  20129799     Owner:  NLM     Status:  In-Data-Review    
A complete vascular ring composed of right aortic arch, aberrant left subclavian artery with Kommerell's diverticulum, and left ligamentum arteriosum was diagnosed by barium esophagography, echocardiography, angiography, and multidetector computed tomography of chest in an 18-day-old male neonate who presented with remarkable inspiratory stridor, expiratory wheezing, postprandial vomiting, and dysphagia since birth, and survived surgical division of the left ligamentum arteriosum, resection of the Kommerell's diverticulum, and reimplanation of the left subclavian artery to the left common carotid artery. Cytogenetic analysis and fluorescence in situ hybridization study of his blood revealed chromosome 22q11.2 deletion, with a karyotype of 46,XY.ish del(22)(q11.2 q11.2). A constellation of right aortic arch, aberrant left subclavian artery with Kommerell's diverticulum, and left ligamentum arteriosum in neonates may cause refractory stridor, wheezing, vomiting, and dysphagia, which can serve as harbingers of the del22q11.2 syndrome.
Meng-Luen Lee; Ming Chen; Lon-Yen Tsao; Han-Yao Chiu; Ing-Sh Chiu; Albert D Yang; Pei-Ling Tsai
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Publication Detail:
Type:  Journal Article     Date:  2010-02-02
Journal Detail:
Title:  Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology     Volume:  20     ISSN:  1879-1336     ISO Abbreviation:  Cardiovasc. Pathol.     Publication Date:    2011 Mar-Apr
Date Detail:
Created Date:  2011-02-07     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9212060     Medline TA:  Cardiovasc Pathol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  124-9     Citation Subset:  IM    
Copyright Information:
Copyright © 2011 Elsevier Inc. All rights reserved.
Division of Pediatric Cardiology, Department of Pediatrics, Changhua Christian Hospital, Changhua 50050; MingDao University, Pitou 523, Taiwan; Center for Medical Genetics, Changhua Christian Hospital, Changhua 50050, Taiwan.
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