• 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

单一患者心脏淀粉样变性的多个危险信号:一种诊断不足疾病的临床表现

Multiple Red Flags of Cardiac Amyloidosis in a Single Patient: Clinical Manifestations of an Underdiagnosed Disease.

作者信息

Dąbrowski Emil Julian, Kozłowska Wiktoria Urszula, Lipska Patrycja Oliwia, Matys Urszula, Pogorzelski Szymon, Kożuch Marcin, Dobrzycki Sławomir

机构信息

Department of Invasive Cardiology, Medical University of Białystok, 15-089 Białystok, Poland.

出版信息

Diagnostics (Basel). 2024 Dec 13;14(24):2812. doi: 10.3390/diagnostics14242812.

DOI:10.3390/diagnostics14242812
PMID:39767172
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11674418/
Abstract

Cardiac transthyretin amyloidosis is an underdiagnosed disorder with significant diagnostic difficulties due to its non-specific clinical manifestations. It is caused by the deposition of protein aggregates with an abnormal tertiary structure in the extracellular matrix. Their accumulation leads to the development of hypertrophic and restrictive cardiomyopathy and, at a later stage, heart failure with preserved ejection fraction syndrome. Depending on the pathogenesis, there are different types of the disease-hereditary and age-related wild-type transthyretin amyloidosis. We present the case of an 85-year-old woman who was referred to the department with a two-month history of exertional dyspnea in New York Heart Association functional class II. After reviewing the initial findings, several red flags for cardiac amyloidosis (CA) were identified. Following the diagnostic algorithm, scintigraphy was performed and showed significant radioisotope accumulation in the myocardium, confirming the suspected disease. In this manuscript, we present the current recommendations and diagnostic pathway, discussing in detail both available and emerging treatment options. As early diagnosis is essential to prevent the development of serious complications, we would like to highlight the pitfalls in diagnosing CA and emphasize the need to be aware of its variable clinical presentation and red flags.

摘要

心脏转甲状腺素蛋白淀粉样变性是一种诊断不足的疾病,因其临床表现不具特异性而存在显著的诊断困难。它是由具有异常三级结构的蛋白质聚集体在细胞外基质中沉积所致。这些聚集体的积累会导致肥厚性和限制性心肌病的发展,在后期还会引发射血分数保留的心力衰竭综合征。根据发病机制,该疾病有不同类型——遗传性和年龄相关的野生型转甲状腺素蛋白淀粉样变性。我们报告了一例85岁女性病例,她因纽约心脏协会心功能II级的劳力性呼吸困难病史两个月被转诊至该科室。在回顾初始检查结果后,发现了一些心脏淀粉样变性(CA)的警示信号。按照诊断流程,进行了闪烁扫描,结果显示心肌中有明显的放射性同位素积聚,证实了疑似疾病。在本手稿中,我们介绍了当前的建议和诊断途径,详细讨论了现有的和新出现的治疗方案。由于早期诊断对于预防严重并发症的发生至关重要,我们想强调CA诊断中的陷阱,并强调需要了解其多变的临床表现和警示信号。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9a8f/11674418/f32006650178/diagnostics-14-02812-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9a8f/11674418/f32006650178/diagnostics-14-02812-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9a8f/11674418/f32006650178/diagnostics-14-02812-g001.jpg

相似文献

1
Multiple Red Flags of Cardiac Amyloidosis in a Single Patient: Clinical Manifestations of an Underdiagnosed Disease.单一患者心脏淀粉样变性的多个危险信号:一种诊断不足疾病的临床表现
Diagnostics (Basel). 2024 Dec 13;14(24):2812. doi: 10.3390/diagnostics14242812.
2
Wild-Type Transthyretin Amyloidosis: A Prevalent and Underdiagnosed Cause of Heart Failure With Preserved Ejection Fraction.野生型转甲状腺素蛋白淀粉样变性:射血分数保留的心力衰竭的常见且诊断不足的病因。
Cureus. 2024 Jun 18;16(6):e62623. doi: 10.7759/cureus.62623. eCollection 2024 Jun.
3
Assessment of clinical characteristics of cardiac amyloidosis as a potential underlying etiology in patients diagnosed with heart failure with preserved ejection fraction.评估心力衰竭伴射血分数保留患者中心肌淀粉样变作为潜在潜在病因的临床特征。
Kardiol Pol. 2022;80(6):672-678. doi: 10.33963/KP.a2022.0098. Epub 2022 Apr 7.
4
Wild-type transthyretin cardiac amyloidosis is not rare in elderly subjects: the CATCH screening study.野生型转甲状腺素蛋白心脏淀粉样变在老年人群中并不罕见:CATCH 筛查研究。
Eur J Prev Cardiol. 2024 Aug 22;31(11):1410-1417. doi: 10.1093/eurjpc/zwae093.
5
First report of the clinical characteristics and outcomes of cardiac amyloidosis in Saudi Arabia.沙特阿拉伯心脏淀粉样变性临床特征与转归的首次报告。
ESC Heart Fail. 2024 Dec;11(6):4348-4359. doi: 10.1002/ehf2.15045. Epub 2024 Sep 1.
6
"Two is Company, Three is a Crowd" - A Case Presentation of Cardiac Amyloidosis, Hypertrophic Cardiomyopathy Plus Coronary Heart Disease.“两人成伴,三人不欢”——一例心脏淀粉样变、肥厚型心肌病合并冠心病的病例报告
J Saudi Heart Assoc. 2024 Aug 12;36(2):178-183. doi: 10.37616/2212-5043.1389. eCollection 2024.
7
Transthyretin Cardiac Amyloidosis: An Evolution in Diagnosis and Management of an "Old" Disease.转甲状腺素蛋白心脏淀粉样变:一种“古老”疾病的诊断和治疗的演变。
Cardiol Clin. 2022 Nov;40(4):541-558. doi: 10.1016/j.ccl.2022.06.008. Epub 2022 Sep 15.
8
Transthyretin cardiac amyloidosis: an update on diagnosis and treatment.转甲状腺素蛋白心脏淀粉样变:诊断与治疗的最新进展。
ESC Heart Fail. 2019 Dec;6(6):1128-1139. doi: 10.1002/ehf2.12518. Epub 2019 Sep 25.
9
A Case Report and Literature Review of Cardiac Amyloidosis: The Great Pretender Masquerading As Acute Coronary Syndrome.心脏淀粉样变性病例报告及文献综述:伪装成急性冠状动脉综合征的“伪装者”
Cureus. 2025 Apr 1;17(4):e81567. doi: 10.7759/cureus.81567. eCollection 2025 Apr.
10
The Most Predictive Red Flags for Suspecting Cardiac Amyloidosis in Patients with Heart Failure with Preserved Ejection Fraction.心力衰竭伴射血分数保留患者疑诊心脏淀粉样变性的最具预测性的危险信号。
Turk Kardiyol Dern Ars. 2024 Jun;52(4):227-236. doi: 10.5543/tkda.2024.33046.

本文引用的文献

1
Prevalence of transthyretin cardiac amyloidosis in undifferentiated heart failure with preserved ejection fraction.射血分数保留的未分化心力衰竭中甲状腺转运蛋白心脏淀粉样变的患病率。
ESC Heart Fail. 2025 Apr;12(2):1176-1182. doi: 10.1002/ehf2.15112. Epub 2024 Nov 7.
2
Vutrisiran in Patients with Transthyretin Amyloidosis with Cardiomyopathy.伏硫西汀治疗转甲状腺素蛋白淀粉样变心肌病患者
N Engl J Med. 2025 Jan 2;392(1):33-44. doi: 10.1056/NEJMoa2409134. Epub 2024 Aug 30.
3
Prevalence and characteristics of transthyretin amyloid cardiomyopathy in hypertrophic cardiomyopathy.
肥厚型心肌病中甲状腺转运蛋白淀粉样变心肌病的患病率及特征
ESC Heart Fail. 2024 Dec;11(6):4314-4324. doi: 10.1002/ehf2.14971. Epub 2024 Aug 29.
4
World Heart Federation Consensus on Transthyretin Amyloidosis Cardiomyopathy (ATTR-CM).世界心脏联合会关于转甲状腺素蛋白淀粉样变性心肌病(ATTR-CM)的共识。
Glob Heart. 2023 Oct 26;18(1):59. doi: 10.5334/gh.1262. eCollection 2023.
5
Diagnosis and treatment of cardiac amyloidosis: a position statement of the ESC Working Group on Myocardial and Pericardial Diseases.心脏淀粉样变性的诊断与治疗:欧洲心脏病学会心肌与心包疾病工作组的立场声明
Eur Heart J. 2021 Apr 21;42(16):1554-1568. doi: 10.1093/eurheartj/ehab072.