中国卒中杂志 ›› 2025, Vol. 20 ›› Issue (10): 1301-1307.DOI: 10.3969/j.issn.1673-5765.2025.10.012

• 病例讨论 • 上一篇    下一篇

转甲状腺素蛋白心脏淀粉样变合并卒中1例报道并文献复习

冯丹1,谢乐星2,高飞2   

  1. 1 重庆 400037  陆军军医大学第二附属医院心血管内科
    2 陆军军医大学第二附属医院神经内科
  • 收稿日期:2025-02-19 修回日期:2025-09-15 接受日期:2025-09-22 出版日期:2025-10-20 发布日期:2025-10-20
  • 通讯作者: 高飞 gfly0805@tmmu.edu.cn
  • 基金资助:
    国家自然科学基金青年项目(82401597)

Transthyretin Cardiac Amyloidosis Complicated with Stroke: A Case Report and Literature Review

FENG Dan1, XIE Lexing2, GAO Fei2   

  1. 1 Department of Cardiovascular Medicine, The Second Affiliated Hospital of Army Medical University, Chongqing 400037, China
    2 Department of Neurology, The Second Affiliated Hospital of Army Medical University, Chongqing 400037, China
  • Received:2025-02-19 Revised:2025-09-15 Accepted:2025-09-22 Online:2025-10-20 Published:2025-10-20
  • Contact: GAO Fei, E-mail: gfly0805@tmmu.edu.cn

摘要: 转甲状腺素蛋白心脏淀粉样变(transthyretin cardiac amyloidosis,ATTR-CA)是一种少见的致死性心肌病,其由错误折叠的转甲状腺素蛋白在心肌间质沉积所致。ATTR-CA常合并心房颤动及心内血栓形成,可引发心源性脑栓塞。此外,异常转甲状腺素蛋白可沉积于软脑膜微小血管壁,导致脑血管淀粉样变性,进而引发脑出血、蛛网膜下腔出血或脑梗死。本文报道1例以急性多发性脑梗死为表现的ATTR-CA患者,其在诊治期间反复发生脑梗死并发出血,病因考虑为软脑膜微小血管转甲状腺素蛋白淀粉样变。本文结合文献综述,介绍ATTR-CA合并卒中的可能机制、临床特点,以及治疗及转归,以期为此类患者的临床诊疗提供参考。

关键词: 转甲状腺素蛋白; 心脏淀粉样变; 脑梗死; 脑出血

Abstract: Transthyretin cardiac amyloidosis (ATTR-CA) is a rare and fatal cardiomyopathy caused by the deposition of misfolded transthyretin in the myocardial interstitium. ATTR-CA is often complicated by atrial fibrillation and intracardiac thrombosis, which can lead to cardiogenic cerebral embolism. Additionally, abnormal transthyretin can deposit in the walls of small blood vessels of the leptomeninges, resulting in cerebral amyloid angiopathy, which may subsequently cause intracerebral hemorrhage, subarachnoid hemorrhage, or cerebral infarction. This article reports a case of ATTR-CA presenting as acute multiple cerebral infarctions. During the diagnosis and treatment process, cerebral infarction and bleeding occurred repeatedly. The cause was considered to be transthyretin amyloidosis of the small blood vessels of the leptomeninges. By integrating a literature review, this article aims to elucidate the pathogenesis, clinical characteristics, and treatment outcomes of ATTR-CA complicated by stroke, providing a reference for clinical diagnosis and management.

Key words: Transthyretin; Cardiac amyloidosis; Cerebral infarction; Intracerebral hemorrhage

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