Open Access

CASE REPORT

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

Sanam Safi^1,2, Takato Yamasaki^1,3, David J. Glidden⁴, Stephen P. Sanders^1,5, Chrystalle Katte Carreon^1,6,*

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:

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

Received 12 October 2021; Accepted 20 December 2021; Issue published 26 January 2022

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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Keywords

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