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Case report: A novel combination of anomalies in a patient with 22q11.2 deletion syndrome

Authors :
Connor Byeman
Ravi Ashwath
Source :
Frontiers in Pediatrics, Vol 11 (2023)
Publication Year :
2023
Publisher :
Frontiers Media S.A., 2023.

Abstract

A frequently occurring genetic disorder, 22q11.2 deletion syndrome can manifest with various abnormalities. The range of cardiac anomalies associated with this syndrome is extensive, with conotruncal defects being the most prevalent. In this study, we report the case of a patient with a unique combination of anatomical abnormalities such as crisscross pulmonary arteries, a cervical aortic arch with coarctation of the aorta, and a ventricular septal defect. The patient underwent initial surgical intervention, which resulted in significant clinical improvement.

Details

Language :
English
ISSN :
22962360
Volume :
11
Database :
Directory of Open Access Journals
Journal :
Frontiers in Pediatrics
Publication Type :
Academic Journal
Accession number :
edsdoj.0fe0c3dc65d546c1bbd76b3a8024918f
Document Type :
article
Full Text :
https://doi.org/10.3389/fped.2023.1298652