Cardiovascular Pathology
Volume 20, Issue 2 , Pages 124-129 , March 2011

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

  • Meng-Luen Lee

      Affiliations

    • 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
    • Corresponding Author InformationCorresponding author. Division of Pediatric Cardiology, Department of Pediatrics, Changhua Christian Hospital; No. 135 Nanhsiao St., Changhua 50050, Taiwan. Tel.: +886 4 7238595x1902; fax: +886 4 7238847.
    • ,
  • Ming Chen

      Affiliations

    • Center for Medical Genetics, Changhua Christian Hospital, Changhua 50050, Taiwan
    • Department of Medical Genetics, College of Medicine, National Taiwan University Hospital, Taipei 10002, Taiwan
    • ,
  • Lon-Yen Tsao

      Affiliations

    • Division of Neonatology, Department of Pediatrics, Changhua Christian Hospital, Changhua 50050, Taiwan
    • ,
  • Han-Yao Chiu

      Affiliations

    • Division of Pulmonology, Department of Pediatrics, Changhua Christian Hospital, Changhua 50050, Taiwan
    • ,
  • Ing-Sh Chiu

      Affiliations

    • Division of Cardiovascular Surgery, Department of Surgery, College of Medicine, National Taiwan University Hospital, Taipei 10002, Taiwan
    • ,
  • Albert D. Yang

      Affiliations

    • Department of Medical Imaging, Changhua Christian Hospital, Changhua 50050, Taiwan
    • ,
  • Pei-Ling Tsai

      Affiliations

    • Department of Medical Imaging, Changhua Christian Hospital, Changhua 50050, Taiwan

Received 15 June 2009 ,Revised 27 October 2009 ,Accepted 5 January 2010.

References 

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  12. Cinà CS, Althani H, Pasenau J, et al. Kommerell's diverticulum and right-sided aortic arch: a cohort study and review of the literature. J Vasc Surg. 2004;39:131–139
  13. Mossad E, Farid I, Youssef G, et al. Diverticulum of Kommerell: a review of a series and a report of a case with tracheal deviation compromising single lung ventilation. Anesth Analg. 2002;94:1462–1464
  14. Edwards JE. Retro-esophageal segment of the left aortic arch, right ligamentum arteriosum and right descending aorta causing a congenital vascular ring about the trachea and esophagus. Proc Staff Meet Mayo Clin. 1948;23:108–116
  15. Morrow WR, Huhta JC. Aortic arch and pulmonary artery anomalies. In:  Garson A,  Bricker JT,  McNamara DG editor. The science and practice of pediatric cardiology. Philadelphia: Lea & Febiger; 1990;p. 1421–1452
  16. Bakker DAH, Berger RMF, Witsenburg M, et al. Vascular rings: a rare cause of common respiratory symptoms. Acta Paediatr. 1999;88:947–952
  17. McElhinney DB, Clark BJ, Weinberg PM, et al. Association of chromosome 22q11 deletion with isolated anomalies of aortic arch laterality and branching. J Am Coll Cardiol. 2001;37:2114–2119
  18. Rauch R, Rauch A, Koch A, et al. Laterality of the aortic arch and anomalies of the subclavian artery—reliable indicators for 22q11.2 deletion syndromes?. Eur J Pediatr. 2004;163:642–645
  19. Momma K, Matsuoka R, Takao A. Aortic arch anomalies associated with chromosome 22q11 deletion (CATCH 22). Pediatr Cardiol. 1999;20:97–102
  20. Lee ML, Chaou WT, Wang YM, et al. A new embryologic linkage between chromosome 22q11 deletion and a right ductus from a right aortic arch in a neonate with DiGeorge syndrome. Int J Cardiol. 2001;79:315–316
  21. Lee ML, Chen HN, Chen M, et al. Persistent fifth aortic arch associated with 22q11.2 deletion syndrome. J Formos Med Assoc. 2006;105:284–289
  22. Fujii I, Ueno Y, Kurano R, et al. Interrupted aortic arch type C associated with DiGeorge syndrome in 22q11.2 deletion: first case detected in Japan. Pediatr Int. 2005;47:698–700
  23. Lee ML, Chen M, Yang AD, et al. Mirror-image type D interrupted aortic arch: a novel cardiac phenotype providing some perspective in the del22q11.2 syndrome. Int J Cardiol. 2009;Epub ahead of print

PII: S1054-8807(10)00022-0

doi: 10.1016/j.carpath.2010.01.006

Cardiovascular Pathology
Volume 20, Issue 2 , Pages 124-129 , March 2011

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