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伴有纯合子亚甲基四氢叶酸还原酶基因突变的颈动脉漂浮血栓:一例报告

Free-floating thrombus of the carotid artery with a homozygous methylenetetrahydrofolate reductase gene mutation: a case report.

作者信息

Colak Necmettin, Nazli Yunus, Kosehan Dilek, Alpay Mehmet Fatih, Cakir Omer

机构信息

Department of Cardiovascular Surgery, University of Fatih, Ankara, Turkey.

出版信息

Vascular. 2013 Feb;21(1):35-8. doi: 10.1258/vasc.2011.cr0284. Epub 2011 Nov 18.

Abstract

Free-floating thrombus (FFT) of the carotid artery is a rare condition of currently unknown etiology. We describe a symptomatic patient with an FFT in the left common carotid artery. A duplex ultrasonography scan showed the presence of a mobile floating thrombus moving in cyclical motion with the cardiac cycles in the left common carotid artery. During emergency surgery, an FFT was seen at this location and removed. No underlying wall defect was seen at the time of surgery. In a genetic screening test, TT homozygous for the methylenetetrahydrofolate reductase (MTHFR) C677T genetic polymorphisms was detected. The patient recovered uneventfully, with no neurogical events. Lifelong anticoagulant therapy was recommended. An aggressive surgical approach is recommended in the patient to prevent embolic episodes.

摘要

颈动脉漂浮血栓(FFT)是一种病因不明的罕见病症。我们描述了一位左侧颈总动脉出现FFT的有症状患者。双功超声扫描显示左侧颈总动脉内存在一个随心动周期呈周期性移动的活动漂浮血栓。在急诊手术中,在此位置发现并取出了一个FFT。手术时未发现潜在的血管壁缺损。在基因筛查检测中,检测到亚甲基四氢叶酸还原酶(MTHFR)C677T基因多态性的TT纯合子。患者恢复顺利,未发生神经事件。建议进行终身抗凝治疗。建议对该患者采取积极的手术方法以预防栓塞事件。

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