An Unusual Association: Total Anomalous Pulmonary Venous Return and Aortic Arch Obstruction in Patients with Cat Eye Syndrome.
Publication
, Journal Article
Williams, JL; McDonald, MT; Seifert, BA; Deak, KL; Rehder, CW; Campbell, MJ
Published in: J Pediatr Genet
March 2021
Cat eye syndrome (CES) is a rare genetic defect, characterized by iris colobomas, preauricular skin tags, and anal malformations. Affecting 1 in 150,000 people, this defect is caused by duplication or triplication of the proximal long (q) arm of chromosome 22. Congenital heart disease is associated with CES. One of the most common heart defects in patients with CES is total anomalous pulmonary venous return (TAPVR). In this article, we reported patients with a rare association of concomitant TAPVR and aortic arch obstruction: one with interrupted aortic arch and the other with coarctation of the aorta with an aberrant right subclavian artery.
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Published In
J Pediatr Genet
DOI
ISSN
2146-4596
Publication Date
March 2021
Volume
10
Issue
1
Start / End Page
35 / 38
Location
Germany
Citation
APA
Chicago
ICMJE
MLA
NLM
Williams, J. L., McDonald, M. T., Seifert, B. A., Deak, K. L., Rehder, C. W., & Campbell, M. J. (2021). An Unusual Association: Total Anomalous Pulmonary Venous Return and Aortic Arch Obstruction in Patients with Cat Eye Syndrome. J Pediatr Genet, 10(1), 35–38. https://doi.org/10.1055/s-0039-1701020
Williams, Jason L., Marie T. McDonald, Bryce A. Seifert, Kristen L. Deak, Catherine W. Rehder, and Michael J. Campbell. “An Unusual Association: Total Anomalous Pulmonary Venous Return and Aortic Arch Obstruction in Patients with Cat Eye Syndrome.” J Pediatr Genet 10, no. 1 (March 2021): 35–38. https://doi.org/10.1055/s-0039-1701020.
Williams JL, McDonald MT, Seifert BA, Deak KL, Rehder CW, Campbell MJ. An Unusual Association: Total Anomalous Pulmonary Venous Return and Aortic Arch Obstruction in Patients with Cat Eye Syndrome. J Pediatr Genet. 2021 Mar;10(1):35–8.
Williams, Jason L., et al. “An Unusual Association: Total Anomalous Pulmonary Venous Return and Aortic Arch Obstruction in Patients with Cat Eye Syndrome.” J Pediatr Genet, vol. 10, no. 1, Mar. 2021, pp. 35–38. Pubmed, doi:10.1055/s-0039-1701020.
Williams JL, McDonald MT, Seifert BA, Deak KL, Rehder CW, Campbell MJ. An Unusual Association: Total Anomalous Pulmonary Venous Return and Aortic Arch Obstruction in Patients with Cat Eye Syndrome. J Pediatr Genet. 2021 Mar;10(1):35–38.
Published In
J Pediatr Genet
DOI
ISSN
2146-4596
Publication Date
March 2021
Volume
10
Issue
1
Start / End Page
35 / 38
Location
Germany