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DOI: 10.1055/s-0039-1701020
An Unusual Association: Total Anomalous Pulmonary Venous Return and Aortic Arch Obstruction in Patients with Cat Eye Syndrome
Funding None.![](https://www.thieme-connect.de/media/10.1055-s-00029027/202101/lookinside/thumbnails/10-1055-s-0039-1701020_1900086-1.jpg)
Abstract
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.
Authors' Contributions
J.L.W. contributed to literature review, wrote the manuscript, and reviewed patient data. He also submitted the manuscript. M.T.M. contributed to reviewing the genetic diagnosis of each patient, including description, and contributed to editing the manuscript. B.A.S. contributed to editing the manuscript and reviewing the chromosomal analysis and cytopathology of each subject. K.L.D. contributed to editing the manuscript and reviewing cytopathology results from the genetic testing. C.W.R. contributed to editing the manuscript, accurately reporting the genetic data, and reviewing the cytopathology results from the genetic testing. M.J.C. contributed to writing and editing of the manuscript and reviewing the cardiology data.
Publication History
Received: 02 October 2019
Accepted: 09 December 2019
Article published online:
20 January 2020
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