Vol.17, No.2, 2022, pp.141-146, doi:10.32604/chd.2022.019743
OPEN ACCESS
CASE REPORT
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:
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.
Keywords
2q37.3 deletion; tricuspid atresia; double outlet infundibulum; juxtaposition of the atrial appendages; right aortic arch; subvalvar pulmonary atresia
Cite This Article
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.
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.