Cargando…
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...
Autores principales: | , , , |
---|---|
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 |
_version_ | 1783239520370556928 |
---|---|
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. |
format | Online Article Text |
id | pubmed-5448247 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT kalisnealenicola computerizedtomographyuseinwilliamsbeurensyndromeaortopathy AT sulaibikhleenakhalifa computerizedtomographyuseinwilliamsbeurensyndromeaortopathy AT alamersaudrashid computerizedtomographyuseinwilliamsbeurensyndromeaortopathy AT alamerhayayousif computerizedtomographyuseinwilliamsbeurensyndromeaortopathy |