An Unusual Association: Total Anomalous Pulmonary Venous Return and Aortic Arch Obstruction in Patients with Cat Eye Syndrome

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.

Keywords

cat eye syndrome - pulmonary vein - transthoracic echocardiogram - interrupted aortic arch

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

• References

• 1 Rosias PR, Sijstermans JM, Theunissen PM. et al. Phenotypic variability of the cat eye syndrome. Case report and review of the literature. Genet Couns 2001; 12 (03) 273-282
• 2 Sharma D, Murki S, Pratap T, Vasikarla M. Cat eye syndrome. BMJ Case Rep 2014; 2014: bcr2014203923
• 3 Tsai MC, Chou YY, Wang JN. et al. Type B interrupted aortic arch and hydrocephalus associated with mosaicism of a 1.37 Mb amplified cat eye syndrome critical region. Pediatr Neonatol 2015; 56 (04) 277-279
• 4 Rosa RF, Mombach R, Zen PR, Graziadio C, Paskulin GA. Clinical characteristics of a sample of patients with cat eye syndrome. Rev Assoc Med Bras (1992) 2010; 56 (04) 462-465
• 5 Belangero SI, Bellucco FT, Cernach MC, Hacker AM, Emanuel BS, Melaragno MI. Interrupted aortic arch type B in A patient with cat eye syndrome. Arq Bras Cardiol 2009; 92 (05) e29-e31 , e56–e58
• 6 Structural measurements and adjustment for growth. In: Lai WW, Cohen MS, Geva T, Mertens L. eds. Echocardiography in Pediatric and Congenital Heart Disease. West Sussex: Wiley-Blackwell; 2009: 51-62
• 7 Freedom RM, Gerald PS. Congenital cardiac disease and the “cat eye” syndrome. Am J Dis Child 1973; 126 (01) 16-18
• 8 Berends MJ, Tan-Sindhunata G, Leegte B, van Essen AJ. Phenotypic variability of Cat-Eye syndrome. Genet Couns 2001; 12 (01) 23-34