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

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, especial...

Full description

Bibliographic Details
Main Authors:	Abuchaibe, Eda-Cristina, Dobrolet, Nancy, Peicher, Katherine, Ventura, Roque, Welch, Elizabeth
Format:	Online
Language:	English
Published:	Hindawi Publishing Corporation 2012
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3461629/

id	pubmed-3461629
recordtype	oai_dc
spelling	pubmed-34616292012-10-04 Sinus of Valsalva Aneurysm Rupture: An Unusual Presentation of Chromosome 22q11.2 Deletion: A Case Report Abuchaibe, Eda-Cristina Dobrolet, Nancy Peicher, Katherine Ventura, Roque Welch, Elizabeth Case Report 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. Hindawi Publishing Corporation 2012 2012-09-23 /pmc/articles/PMC3461629/ /pubmed/23050182 http://dx.doi.org/10.1155/2012/387075 Text en Copyright © 2012 Eda-Cristina Abuchaibe et al. https://creativecommons.org/licenses/by/3.0/ 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.
repository_type	Open Access Journal
institution_category	Foreign Institution
institution	US National Center for Biotechnology Information
building	NCBI PubMed
collection	Online Access
language	English
format	Online
author	Abuchaibe, Eda-Cristina Dobrolet, Nancy Peicher, Katherine Ventura, Roque Welch, Elizabeth
spellingShingle	Abuchaibe, Eda-Cristina Dobrolet, Nancy Peicher, Katherine Ventura, Roque Welch, Elizabeth Sinus of Valsalva Aneurysm Rupture: An Unusual Presentation of Chromosome 22q11.2 Deletion: A Case Report
author_facet	Abuchaibe, Eda-Cristina Dobrolet, Nancy Peicher, Katherine Ventura, Roque Welch, Elizabeth
author_sort	Abuchaibe, Eda-Cristina
title	Sinus of Valsalva Aneurysm Rupture: An Unusual Presentation of Chromosome 22q11.2 Deletion: A Case Report
title_short	Sinus of Valsalva Aneurysm Rupture: An Unusual Presentation of Chromosome 22q11.2 Deletion: A Case Report
title_full	Sinus of Valsalva Aneurysm Rupture: An Unusual Presentation of Chromosome 22q11.2 Deletion: A Case Report
title_fullStr	Sinus of Valsalva Aneurysm Rupture: An Unusual Presentation of Chromosome 22q11.2 Deletion: A Case Report
title_full_unstemmed	Sinus of Valsalva Aneurysm Rupture: An Unusual Presentation of Chromosome 22q11.2 Deletion: A Case Report
title_sort	sinus of valsalva aneurysm rupture: an unusual presentation of chromosome 22q11.2 deletion: a case report
description	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.
publisher	Hindawi Publishing Corporation
publishDate	2012
url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3461629/
_version_	1611913016368955392

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

Similar Items