• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

心力衰竭伴射血分数严重降低患者的双心室血栓形成与杂合子凝血酶原 20210G/A 和纯合子亚甲基四氢叶酸还原酶 677C/T 突变有关。

Biventricular Thrombi in a Patient With Heart Failure With Severely Reduced Ejection Fraction and Heterozygous Prothrombin 20210G/A and Homozygous Methylenetetrahydrofolate Reductase 677C/T Mutations.

机构信息

Division of Cardiology Mount Sinai Hospital, New York, New York.

Department of Internal Medicine, Mount Sinai Beth Israel Hospital Center, Academic Affiliate of the Icahn School of Medicine at Mount Sinai, Clinical Affiliate of the Mount Sinai Hospital, New York, New York.

出版信息

Am J Med Sci. 2018 Jun;355(6):610-613. doi: 10.1016/j.amjms.2017.10.005. Epub 2017 Dec 27.

DOI:10.1016/j.amjms.2017.10.005
PMID:29891045
Abstract

Thrombus in the heart is known to be one of the many sequelae of anterior wall myocardial infarction, atrial fibrillation and coagulation disorders. However, biventricular thrombi are relatively rarely found, even in conditions with a high possibility of thrombus formation. We report the case of a 75-year-old-woman with newly diagnosed systolic heart failure secondary to a nonischemic cardiomyopathy, who was found to have large biventricular thrombi. Further coagulopathy work-up revealed that she was heterozygous for the prothrombin 20210G/A and homozygous for the methylenetetrahydrofolate reductase (MTHFR) 677C/T mutations. We, herein, review and discuss previous case reports and published literature regarding ventricular thrombosis and its treatment. To the best of our knowledge, this is the first case of biventricular thrombosis with prothrombin 20210G/A and MTHFR 677C/T mutations.

摘要

心脏血栓是前壁心肌梗死、心房颤动和凝血障碍等多种后遗症之一。然而,双心室血栓相对较少见,即使在血栓形成可能性较高的情况下也是如此。我们报告了一例 75 岁女性新诊断的非缺血性心肌病引起的收缩性心力衰竭,发现其存在大的双心室血栓。进一步的凝血功能障碍检查显示,她携带凝血酶原 20210G/A 杂合突变和亚甲基四氢叶酸还原酶(MTHFR)677C/T 纯合突变。在此,我们回顾并讨论了以前关于心室血栓形成及其治疗的病例报告和文献。据我们所知,这是首例伴有凝血酶原 20210G/A 和 MTHFR 677C/T 突变的双心室血栓形成病例。

相似文献

1
Biventricular Thrombi in a Patient With Heart Failure With Severely Reduced Ejection Fraction and Heterozygous Prothrombin 20210G/A and Homozygous Methylenetetrahydrofolate Reductase 677C/T Mutations.心力衰竭伴射血分数严重降低患者的双心室血栓形成与杂合子凝血酶原 20210G/A 和纯合子亚甲基四氢叶酸还原酶 677C/T 突变有关。
Am J Med Sci. 2018 Jun;355(6):610-613. doi: 10.1016/j.amjms.2017.10.005. Epub 2017 Dec 27.
2
Heterozygous prothrombin 20210G/A mutation, associated with hyperhomocysteinemia, and homozygous methylenetetrahydrofolate reductase 677C/T mutation, in a patient with portal and mesenteric venous thrombosis.一名患有门静脉和肠系膜静脉血栓形成的患者,存在与高同型半胱氨酸血症相关的杂合子凝血酶原20210G/A突变以及纯合子亚甲基四氢叶酸还原酶677C/T突变。
Hematol J. 2004;5(6):540-2. doi: 10.1038/sj.thj.6200560.
3
Tricuspid valve thrombus and pulmonary embolus in an infant with homozygous thermolabile methylenetetrahydrofolate reductase and heterozygous prothrombin G20210A variant.一名患有纯合子热不稳定亚甲基四氢叶酸还原酶和杂合子凝血酶原G20210A变异体的婴儿出现三尖瓣血栓和肺栓塞。
J Perinatol. 2003 Sep;23(6):513-5. doi: 10.1038/sj.jp.7210951.
4
A deep vein thrombosis caused by 20209C>T mutation in homozygosis of the prothrombin gene in a Caucasian patient.一名高加索裔患者存在凝血酶原基因 20209C>T 突变的纯合子,由此导致深静脉血栓形成。
Biochem Med (Zagreb). 2014 Feb 15;24(1):159-66. doi: 10.11613/BM.2014.018. eCollection 2014.
5
A Study on Hereditary Thrombophilia and Stroke in a Cohort from Sri Lanka.斯里兰卡一组人群中遗传性血栓形成倾向与中风的研究
J Stroke Cerebrovasc Dis. 2016 Jan;25(1):102-9. doi: 10.1016/j.jstrokecerebrovasdis.2015.08.042. Epub 2015 Oct 27.
6
[Mutations of genes associated with thromboses in ischemic stroke in patients with primary antiphospholipid syndrome].[原发性抗磷脂综合征患者缺血性卒中血栓形成相关基因的突变]
Ter Arkh. 2005;77(10):49-53.
7
Impact of inherited thrombophilia on the risk of recurrent venous thromboembolism onset in Georgian population.遗传性血栓形成倾向对格鲁吉亚人群复发性静脉血栓栓塞症发病风险的影响。
Georgian Med News. 2014 Feb(227):93-7.
8
Clinical impact of factor V Leiden, prothrombin G20210A, and MTHFR C677T mutations among sickle cell disease patients of Central India.印度中部镰状细胞病患者中因子 V 莱顿、凝血酶原 G20210A 和 MTHFR C677T 突变的临床影响。
Eur J Haematol. 2013 Nov;91(5):462-6. doi: 10.1111/ejh.12190. Epub 2013 Sep 16.
9
The role of point mutations in the genes, predisposing inherited thrombophilia in the pathogeneses of proximal and distal deep vein thrombosis in Georgian population.点突变在导致格鲁吉亚人群近端和远端深静脉血栓形成的遗传性易栓症相关基因中的作用。
Georgian Med News. 2014 Feb(227):98-102.
10
MTHFR C677T and prothrombin G20210A mutations in a woman from Dalmatia with silent brain infarction.来自达尔马提亚地区一名患有无症状脑梗死女性的亚甲基四氢叶酸还原酶(MTHFR)C677T和凝血酶原G20210A突变
Acta Clin Croat. 2014 Sep;53(3):355-8.

引用本文的文献

1
Management and Follow-Up of Biventricular Thrombi.双心室血栓的管理与随访
Cureus. 2023 May 20;15(5):e39269. doi: 10.7759/cureus.39269. eCollection 2023 May.