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2q37.3 Deletion with Complex Heart Defects Suggesting Interruption of Early Ventricular Looping

Sanam Safi1,2, Takato Yamasaki1,3, David J. Glidden4, Stephen P. Sanders1,5, Chrystalle Katte Carreon1,6,*

1 The Cardiac Registry, Departments of Cardiology, Pathology, and Cardiac Surgery, Boston Children’s Hospital, Boston, USA
2 Department of Cardiology, Gentofte University Hospital, Copenhagen, Denmark
3 Department of Thoracic and Cardiovascular Surgery, Mie University Graduate School of Medicine, Mie, Japan
4 Department of Pathology, Cascade Pathology Services/Legacy Health, Portland, USA
5 Department of Pediatrics, Boston Children’s Hospital and Harvard Medical School, Boston, USA
6 Department of Pathology, Boston Children’s Hospital and Harvard Medical School, Boston, USA

* Corresponding Author: Chrystalle Katte Carreon. Email: email

Congenital Heart Disease 2022, 17(2), 141-146. https://doi.org/10.32604/chd.2022.019743

Abstract

A maternally inherited 828 kb microdeletion of 2q37.3 manifested in a 3-week-old premature boy as left juxtaposition of the atrial appendages associated with tricuspid atresia, double outlet infundibulum, subvalvar pulmonary atresia, large secundum atrial septal defect, and right aortic arch with mirror-image branching, consistent with developmental arrest early in heart looping. To the best of our knowledge, no previous 2q37 deletion syndrome has been reported with such a severe cardiac dysmorphology. Hence, this case adds to the cardiac phenotypes identified in 2q37 deletion syndrome.

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APA Style
Safi, S., Yamasaki, T., Glidden, D.J., Sanders, S.P., Carreon, C.K. (2022). 2q37.3 deletion with complex heart defects suggesting interruption of early ventricular looping. Congenital Heart Disease, 17(2), 141-146. https://doi.org/10.32604/chd.2022.019743
Vancouver Style
Safi S, Yamasaki T, Glidden DJ, Sanders SP, Carreon CK. 2q37.3 deletion with complex heart defects suggesting interruption of early ventricular looping. Congeni Heart Dis. 2022;17(2):141-146 https://doi.org/10.32604/chd.2022.019743
IEEE Style
S. Safi, T. Yamasaki, D.J. Glidden, S.P. Sanders, and C.K. Carreon "2q37.3 Deletion with Complex Heart Defects Suggesting Interruption of Early Ventricular Looping," Congeni. Heart Dis., vol. 17, no. 2, pp. 141-146. 2022. https://doi.org/10.32604/chd.2022.019743



cc This work is licensed under a Creative Commons Attribution 4.0 International License , which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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