Cargando…
A Newly Discovered Genetic Disorder Associated With Life-Threatening Aortic Disease in a 6-Year-Old Boy
Aortic aneurysms in children are rare and when present are usually caused by a connective tissue disorder. In this article, we present a case of multiple aortic aneurysms in an adolescent with a novel finding of a gene variation that is associated with aortic disease.
Autores principales: | , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
SAGE Publications
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7047236/ https://www.ncbi.nlm.nih.gov/pubmed/32102558 http://dx.doi.org/10.1177/2324709620909234 |
_version_ | 1783502102956343296 |
---|---|
author | Hamandi, Mohanad Bolin, Madison L. Fan, Joy Lanfear, Allison T. Woolbert, Seth K. Baxter, Ronald D. DiMaio, J. Michael Brinkman, William T. |
author_facet | Hamandi, Mohanad Bolin, Madison L. Fan, Joy Lanfear, Allison T. Woolbert, Seth K. Baxter, Ronald D. DiMaio, J. Michael Brinkman, William T. |
author_sort | Hamandi, Mohanad |
collection | PubMed |
description | Aortic aneurysms in children are rare and when present are usually caused by a connective tissue disorder. In this article, we present a case of multiple aortic aneurysms in an adolescent with a novel finding of a gene variation that is associated with aortic disease. |
format | Online Article Text |
id | pubmed-7047236 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | SAGE Publications |
record_format | MEDLINE/PubMed |
spelling | pubmed-70472362020-03-10 A Newly Discovered Genetic Disorder Associated With Life-Threatening Aortic Disease in a 6-Year-Old Boy Hamandi, Mohanad Bolin, Madison L. Fan, Joy Lanfear, Allison T. Woolbert, Seth K. Baxter, Ronald D. DiMaio, J. Michael Brinkman, William T. J Investig Med High Impact Case Rep Case Report Aortic aneurysms in children are rare and when present are usually caused by a connective tissue disorder. In this article, we present a case of multiple aortic aneurysms in an adolescent with a novel finding of a gene variation that is associated with aortic disease. SAGE Publications 2020-02-26 /pmc/articles/PMC7047236/ /pubmed/32102558 http://dx.doi.org/10.1177/2324709620909234 Text en © 2020 American Federation for Medical Research https://creativecommons.org/licenses/by/4.0/ This article is distributed under the terms of the Creative Commons Attribution 4.0 License (https://creativecommons.org/licenses/by/4.0/) which permits any use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage). |
spellingShingle | Case Report Hamandi, Mohanad Bolin, Madison L. Fan, Joy Lanfear, Allison T. Woolbert, Seth K. Baxter, Ronald D. DiMaio, J. Michael Brinkman, William T. A Newly Discovered Genetic Disorder Associated With Life-Threatening Aortic Disease in a 6-Year-Old Boy |
title | A Newly Discovered Genetic Disorder Associated With Life-Threatening Aortic Disease in a 6-Year-Old Boy |
title_full | A Newly Discovered Genetic Disorder Associated With Life-Threatening Aortic Disease in a 6-Year-Old Boy |
title_fullStr | A Newly Discovered Genetic Disorder Associated With Life-Threatening Aortic Disease in a 6-Year-Old Boy |
title_full_unstemmed | A Newly Discovered Genetic Disorder Associated With Life-Threatening Aortic Disease in a 6-Year-Old Boy |
title_short | A Newly Discovered Genetic Disorder Associated With Life-Threatening Aortic Disease in a 6-Year-Old Boy |
title_sort | newly discovered genetic disorder associated with life-threatening aortic disease in a 6-year-old boy |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7047236/ https://www.ncbi.nlm.nih.gov/pubmed/32102558 http://dx.doi.org/10.1177/2324709620909234 |
work_keys_str_mv | AT hamandimohanad anewlydiscoveredgeneticdisorderassociatedwithlifethreateningaorticdiseaseina6yearoldboy AT bolinmadisonl anewlydiscoveredgeneticdisorderassociatedwithlifethreateningaorticdiseaseina6yearoldboy AT fanjoy anewlydiscoveredgeneticdisorderassociatedwithlifethreateningaorticdiseaseina6yearoldboy AT lanfearallisont anewlydiscoveredgeneticdisorderassociatedwithlifethreateningaorticdiseaseina6yearoldboy AT woolbertsethk anewlydiscoveredgeneticdisorderassociatedwithlifethreateningaorticdiseaseina6yearoldboy AT baxterronaldd anewlydiscoveredgeneticdisorderassociatedwithlifethreateningaorticdiseaseina6yearoldboy AT dimaiojmichael anewlydiscoveredgeneticdisorderassociatedwithlifethreateningaorticdiseaseina6yearoldboy AT brinkmanwilliamt anewlydiscoveredgeneticdisorderassociatedwithlifethreateningaorticdiseaseina6yearoldboy AT hamandimohanad newlydiscoveredgeneticdisorderassociatedwithlifethreateningaorticdiseaseina6yearoldboy AT bolinmadisonl newlydiscoveredgeneticdisorderassociatedwithlifethreateningaorticdiseaseina6yearoldboy AT fanjoy newlydiscoveredgeneticdisorderassociatedwithlifethreateningaorticdiseaseina6yearoldboy AT lanfearallisont newlydiscoveredgeneticdisorderassociatedwithlifethreateningaorticdiseaseina6yearoldboy AT woolbertsethk newlydiscoveredgeneticdisorderassociatedwithlifethreateningaorticdiseaseina6yearoldboy AT baxterronaldd newlydiscoveredgeneticdisorderassociatedwithlifethreateningaorticdiseaseina6yearoldboy AT dimaiojmichael newlydiscoveredgeneticdisorderassociatedwithlifethreateningaorticdiseaseina6yearoldboy AT brinkmanwilliamt newlydiscoveredgeneticdisorderassociatedwithlifethreateningaorticdiseaseina6yearoldboy |