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Computerized Tomography Use in Williams–Beuren Syndrome Aortopathy

Williams-Beuren syndrome is a multisystem genetic disorder caused by hemizygous deletion on chromosome 7q11.23, encompassing about 28 genes including the elastin gene, ELN. Cardiovascular abnormalities are frequent and are related to elastin insufficiency. These abnormalities include supravalvular a...

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Autores principales: Kalis, Neale Nicola, Sulaibikh, Leena Khalifa, Al Amer, Saud Rashid, Al Amer, Haya Yousif
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5448247/
https://www.ncbi.nlm.nih.gov/pubmed/28584589
http://dx.doi.org/10.4103/1995-705X.206205
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author Kalis, Neale Nicola
Sulaibikh, Leena Khalifa
Al Amer, Saud Rashid
Al Amer, Haya Yousif
author_facet Kalis, Neale Nicola
Sulaibikh, Leena Khalifa
Al Amer, Saud Rashid
Al Amer, Haya Yousif
author_sort Kalis, Neale Nicola
collection PubMed
description Williams-Beuren syndrome is a multisystem genetic disorder caused by hemizygous deletion on chromosome 7q11.23, encompassing about 28 genes including the elastin gene, ELN. Cardiovascular abnormalities are frequent and are related to elastin insufficiency. These abnormalities include supravalvular aortic stenosis (SVAS) in 70% of case, pulmonic valve stenosis, and renal artery stenosis. Definitive therapy for supravalvar aortic stenosis consists of surgical correction of the arteriopathies. Outcomes after surgical correction of SVAS depend on the extent of the arteriopathy and the presence of other associated lesions. We present a case of a 4-year-old boy, with Williams - Beuren syndrome with an SVAS. The patient was assessed with computerized tomography angiography to determine the extent of the aortopathy before surgical intervention.
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spelling pubmed-54482472017-06-05 Computerized Tomography Use in Williams–Beuren Syndrome Aortopathy Kalis, Neale Nicola Sulaibikh, Leena Khalifa Al Amer, Saud Rashid Al Amer, Haya Yousif Heart Views Case Report Williams-Beuren syndrome is a multisystem genetic disorder caused by hemizygous deletion on chromosome 7q11.23, encompassing about 28 genes including the elastin gene, ELN. Cardiovascular abnormalities are frequent and are related to elastin insufficiency. These abnormalities include supravalvular aortic stenosis (SVAS) in 70% of case, pulmonic valve stenosis, and renal artery stenosis. Definitive therapy for supravalvar aortic stenosis consists of surgical correction of the arteriopathies. Outcomes after surgical correction of SVAS depend on the extent of the arteriopathy and the presence of other associated lesions. We present a case of a 4-year-old boy, with Williams - Beuren syndrome with an SVAS. The patient was assessed with computerized tomography angiography to determine the extent of the aortopathy before surgical intervention. Medknow Publications & Media Pvt Ltd 2017 /pmc/articles/PMC5448247/ /pubmed/28584589 http://dx.doi.org/10.4103/1995-705X.206205 Text en Copyright: © 2017 Heart Views http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.
spellingShingle Case Report
Kalis, Neale Nicola
Sulaibikh, Leena Khalifa
Al Amer, Saud Rashid
Al Amer, Haya Yousif
Computerized Tomography Use in Williams–Beuren Syndrome Aortopathy
title Computerized Tomography Use in Williams–Beuren Syndrome Aortopathy
title_full Computerized Tomography Use in Williams–Beuren Syndrome Aortopathy
title_fullStr Computerized Tomography Use in Williams–Beuren Syndrome Aortopathy
title_full_unstemmed Computerized Tomography Use in Williams–Beuren Syndrome Aortopathy
title_short Computerized Tomography Use in Williams–Beuren Syndrome Aortopathy
title_sort computerized tomography use in williams–beuren syndrome aortopathy
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5448247/
https://www.ncbi.nlm.nih.gov/pubmed/28584589
http://dx.doi.org/10.4103/1995-705X.206205
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