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一名患有SMAD-3突变患者的乳内动脉动脉瘤的血管内修复术。

Endovascular repair of an internal mammary artery aneurysm in a patient with SMAD-3 mutation.

作者信息

Burke Chris, Shalhub Sherene, Starnes Benjamin W

机构信息

Division of Vascular Surgery, Department of Surgery, University of Washington, Seattle, Wash.

Division of Vascular Surgery, Department of Surgery, University of Washington, Seattle, Wash.

出版信息

J Vasc Surg. 2015 Aug;62(2):486-8. doi: 10.1016/j.jvs.2014.01.049. Epub 2014 Mar 20.

DOI:10.1016/j.jvs.2014.01.049
PMID:24657066
Abstract

Aneurysms of the internal mammary artery are rare. We describe a case of a 49-year-old woman with a SMAD3 mutation who presented with left internal mammary artery aneurysm that was thought to have ruptured, causing a large spontaneous left mediastinal hematoma. The aneurysm was treated successfully months after initial presentation with coil embolization. SMAD3 mutations are linked to familial thoracic aortic aneurysms and dissections, peripheral aneurysms, and early-onset osteoarthritis, with an estimated incidence of 2% in families with familial thoracic aortic aneurysms and dissections. To our knowledge, this is the first case in the literature to link a SMAD3 mutation with internal mammary artery aneurysm.

摘要

乳内动脉动脉瘤较为罕见。我们描述了一例49岁患有SMAD3突变的女性病例,该患者出现左乳内动脉动脉瘤,据认为已破裂,导致左纵隔自发性大血肿。动脉瘤在初次就诊数月后通过弹簧圈栓塞成功治疗。SMAD3突变与家族性胸主动脉瘤和夹层、周围动脉瘤以及早发性骨关节炎有关,在患有家族性胸主动脉瘤和夹层的家族中估计发病率为2%。据我们所知,这是文献中首例将SMAD3突变与乳内动脉动脉瘤相关联的病例。

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Endovascular repair of an internal mammary artery aneurysm in a patient with SMAD-3 mutation.一名患有SMAD-3突变患者的乳内动脉动脉瘤的血管内修复术。
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引用本文的文献

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Case Report: Morphological Characterization and Long-Term Observation of Bilateral Sequential Internal Mammary Artery Aneurysms in a Patient With Confirmed FBN1 Mutation.病例报告:一名确诊为FBN1基因突变患者双侧序贯性乳内动脉瘤的形态学特征及长期观察
Front Cardiovasc Med. 2021 Jun 16;8:697591. doi: 10.3389/fcvm.2021.697591. eCollection 2021.
2
Incidental Finding and Endovascular Repair of a Left Internal Mammary Artery Aneurysm following a Multivessel Coronary Artery Bypass Graft.多支冠状动脉旁路移植术后左乳内动脉动脉瘤的偶然发现及血管内修复
Case Rep Cardiol. 2021 Feb 17;2021:8831235. doi: 10.1155/2021/8831235. eCollection 2021.
3
Coil embolization of bilateral internal mammary artery aneurysms in the setting of a heterozygous missense variant of unknown significance in COL5A1 and fibromuscular dysplasia.
在COL5A1基因存在意义不明的杂合错义变异且患有纤维肌发育异常的情况下,对双侧乳内动脉动脉瘤进行弹簧圈栓塞术。
J Vasc Surg Cases Innov Tech. 2019 Sep 20;5(4):410-414. doi: 10.1016/j.jvscit.2019.07.002. eCollection 2019 Dec.
4
Successful treatment of a right internal mammary artery aneurysm with thoracoscopic surgery.胸腔镜手术成功治疗右乳内动脉动脉瘤。
J Vasc Surg Cases Innov Tech. 2019 Jun 25;5(3):269-272. doi: 10.1016/j.jvscit.2019.03.006. eCollection 2019 Sep.
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A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.LDS 相关基因 TGFB2/3 和 SMAD2/3 的突变更新。
Hum Mutat. 2018 May;39(5):621-634. doi: 10.1002/humu.23407. Epub 2018 Mar 6.
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Posterior tibial artery aneurysm in a child with mutation.一名患有基因突变的儿童的胫后动脉瘤。
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A Novel Mutation of SMAD3 Identified in a Chinese Family with Aneurysms-Osteoarthritis Syndrome.在中国一个患有动脉瘤-骨关节炎综合征的家族中鉴定出的SMAD3新突变。
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