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一种新发现的遗传性疾病与一名 6 岁男孩的危及生命的主动脉疾病有关。

A Newly Discovered Genetic Disorder Associated With Life-Threatening Aortic Disease in a 6-Year-Old Boy.

机构信息

Baylor Scott and White-The Heart Hospital, Plano, TX, USA.

出版信息

J Investig Med High Impact Case Rep. 2020 Jan-Dec;8:2324709620909234. doi: 10.1177/2324709620909234.

DOI:10.1177/2324709620909234
PMID:32102558
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7047236/
Abstract

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.

摘要

儿童的主动脉瘤很少见，当出现时通常是由结缔组织疾病引起的。在本文中，我们介绍了一例青少年多发主动脉瘤的病例，该病例存在一种与主动脉疾病相关的新的基因突变。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7bcd/7047236/be0aa6babd01/10.1177_2324709620909234-fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7bcd/7047236/be0aa6babd01/10.1177_2324709620909234-fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7bcd/7047236/be0aa6babd01/10.1177_2324709620909234-fig1.jpg

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J Vasc Surg. 2019 Nov;70(5):1543-1554. doi: 10.1016/j.jvs.2019.01.069. Epub 2019 May 21.
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Consecutive surgical sequelae in children and adolescents with Marfan syndrome after primary cardiovascular surgical interventions.马凡综合征儿童和青少年初次心血管外科手术后的连续手术后遗症。
Eur J Cardiothorac Surg. 2020 Jan 1;57(1):54-62. doi: 10.1093/ejcts/ezz143.
3
Ari-1 Regulates Myonuclear Organization Together with Parkin and Is Associated with Aortic Aneurysms.
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Dev Cell. 2018 Apr 23;45(2):226-244.e8. doi: 10.1016/j.devcel.2018.03.020.
4
Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations.与ACTA2突变相关的主动脉疾病表现及预后
Circ Cardiovasc Genet. 2015 Jun;8(3):457-64. doi: 10.1161/CIRCGENETICS.114.000943. Epub 2015 Mar 10.
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Int J Vasc Med. 2013;2013:267215. doi: 10.1155/2013/267215. Epub 2013 Jan 14.
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