Sinus of Valsalva Aneurysm Rupture: An Unusual Presentation of Chromosome 22q11.2 Deletion: A Case ReportReport as inadecuate




Sinus of Valsalva Aneurysm Rupture: An Unusual Presentation of Chromosome 22q11.2 Deletion: A Case Report - Download this document for free, or read online. Document in PDF available to download.

Case Reports in PediatricsVolume 2012 2012, Article ID 387075, 4 pages

Case Report

Department of Pediatric Medical Education, Miami Children-s Hospital, 3100 SW 62nd Avenue, Miami, FL 33155-3009, USA

Department of Pediatric Cardiology, Miami Children-s Hospital, 3100 SW 62nd Avenue, Miami, FL 33155-3009, USA

Department of Osteopathic Medicine, Nova Southeastern University, Davie, FL 3314-7796, USA

Received 7 May 2012; Accepted 8 July 2012

Academic Editors: H. Horigome and J. Hruda

Copyright © 2012 Eda-Cristina Abuchaibe et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Sinus of Valsalva aneurysm SVA is defined as a weakness in the aortic valve wall, immediately above the attachments of each of the aortic cusps. This weakness can rupture and create an aortocardiac fistula. There are many congenital heart defects associated with chromosome 22q11 deletion, especially involving the aortic arch and its branches. SVA is not an anomaly usually associated with chromosome 22 deletion. We report the case of a 19-year-old female who presented to our institution with SVA rupture. She was subsequently diagnosed with chromosome 22q11 deletion syndrome. Despite dysmorphic facial features and a learning disability, our patient had not been diagnosed with the chromosome abnormality. SVA is a rare congenital heart defect and has only once previously been reported in a child with a chromosome 22q11 deletion. We report the first case where aneurysm rupture preceded the chromosomal findings. Chromosome 22q11 deletion could be missed due to either the unfamiliarity of physicians with the syndrome or the variability and subtlety of the phenotype. This was demonstrated by our patient who, at age 19 after presenting with an SVA rupture, prompted physicians to find an explanation for her coexisting dysmorphic features and her learning disability.





Author: Eda-Cristina Abuchaibe, Nancy Dobrolet, Katherine Peicher, Roque Ventura, and Elizabeth Welch

Source: https://www.hindawi.com/



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