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Noninvasive multimodality imaging in hereditary transthyretin amyloid cardiomyopathy: a family case series from the southeast coast of China with an identified heterozygous missense mutation c.349G>T in the transthyretin gene.

作者信息

Du Qianni, Zhao Hengyu

机构信息

Department of Radiology, Xiamen Cardiovascular Hospital of Xiamen University, School of Medicine, Xiamen University, Xiamen, China.

出版信息

Quant Imaging Med Surg. 2023 Aug 1;13(8):5436-5442. doi: 10.21037/qims-23-39. Epub 2023 Jun 29.

DOI:10.21037/qims-23-39
PMID:37581030
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10423337/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/257a/10423337/490f7124f8b0/qims-13-08-5436-f4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/257a/10423337/62cfa869ed60/qims-13-08-5436-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/257a/10423337/490f7124f8b0/qims-13-08-5436-f4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/257a/10423337/62cfa869ed60/qims-13-08-5436-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/257a/10423337/490f7124f8b0/qims-13-08-5436-f4.jpg

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1
Noninvasive multimodality imaging in hereditary transthyretin amyloid cardiomyopathy: a family case series from the southeast coast of China with an identified heterozygous missense mutation c.349G>T in the transthyretin gene.遗传性转甲状腺素蛋白淀粉样心肌病的非侵入性多模态成像:来自中国东南沿海的一个家系病例系列,其中转甲状腺素蛋白基因存在一个已鉴定的杂合错义突变c.349G>T 。
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Clinical Profile and Prognosis of Hereditary Transthyretin Amyloid Cardiomyopathy: A Single-Center Study in South China.遗传性转甲状腺素蛋白淀粉样变心肌病的临床特征与预后:中国南方单中心研究
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本文引用的文献

1
Impact of Earlier Diagnosis in Cardiac ATTR Amyloidosis Over the Course of 20 Years.心脏ATTR 淀粉样变 20 年的早期诊断影响。
Circulation. 2022 Nov 29;146(22):1657-1670. doi: 10.1161/CIRCULATIONAHA.122.060852. Epub 2022 Nov 3.
2
Diagnosing heart failure with preserved ejection fraction in cardiac amyloidosis or diagnosing cardiac amyloidosis in heart failure with preserved ejection fraction?诊断心脏淀粉样变性中射血分数保留的心力衰竭,还是诊断射血分数保留的心力衰竭中的心脏淀粉样变性?
Eur J Heart Fail. 2022 Dec;24(12):2387-2389. doi: 10.1002/ejhf.2678. Epub 2022 Sep 20.
3
Cardiomyopathy correlates to nerve damage in p.A117S late-onset transthyretin amyloid polyneuropathy.
心肌病变与 p.A117S 晚发性转甲状腺素蛋白淀粉样多神经病的神经损伤相关。
Ann Clin Transl Neurol. 2022 Sep;9(9):1359-1369. doi: 10.1002/acn3.51635. Epub 2022 Aug 9.
4
Clinical Profile and Prognosis of Hereditary Transthyretin Amyloid Cardiomyopathy: A Single-Center Study in South China.遗传性转甲状腺素蛋白淀粉样变心肌病的临床特征与预后:中国南方单中心研究
Front Cardiovasc Med. 2022 Jun 27;9:900313. doi: 10.3389/fcvm.2022.900313. eCollection 2022.
5
Technetium-pyrophosphate scintigraphy: a practical guide for early diagnosis of transthyretin amyloid cardiomyopathy.锝焦磷酸盐闪烁扫描术:转甲状腺素淀粉样变心肌病早期诊断的实用指南。
ESC Heart Fail. 2022 Feb;9(1):251-262. doi: 10.1002/ehf2.13693. Epub 2021 Nov 29.
6
ASNC/AHA/ASE/EANM/HFSA/ISA/SCMR/SNMMI Expert Consensus Recommendations for Multimodality Imaging in Cardiac Amyloidosis: Part 1 of 2-Evidence Base and Standardized Methods of Imaging.美国核医学与分子影像学会(ASNC)/美国心脏协会(AHA)/美国超声心动图学会(ASE)/欧洲核医学协会(EANM)/美国心力衰竭学会(HFSA)/美国心律学会(ISA)/心血管磁共振学会(SCMR)/美国核医学与分子影像学会(SNMMI)关于心脏淀粉样变性多模态成像的专家共识建议:第1部分-证据基础和标准化成像方法。
Circ Cardiovasc Imaging. 2021 Jul;14(7):e000029. doi: 10.1161/HCI.0000000000000029. Epub 2021 Jul 1.
7
ASNC/AHA/ASE/EANM/HFSA/ISA/SCMR/SNMMI Expert Consensus Recommendations for Multimodality Imaging in Cardiac Amyloidosis: Part 2 of 2-Diagnostic Criteria and Appropriate Utilization.美国核医学与分子影像学会/美国心脏协会/美国超声心动图学会/欧洲核医学协会/美国心力衰竭学会/美国心律学会/心血管磁共振学会/美国核医学与分子影像学会心脏淀粉样变性多模态成像专家共识建议:第2部分,共2部分 - 诊断标准与合理应用
Circ Cardiovasc Imaging. 2021 Jul;14(7):e000030. doi: 10.1161/HCI.0000000000000030. Epub 2021 Jul 1.
8
Hereditary Transthyretin Amyloidosis- Clinical and Genetic Characteristics of a Multiracial South-East Asian Cohort in Singapore.遗传性转甲状腺素蛋白淀粉样变性症-新加坡多民族东南亚队列的临床和遗传特征。
J Neuromuscul Dis. 2021;8(4):723-733. doi: 10.3233/JND-210656.
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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.
10
Hereditary transthyretin amyloidosis in mainland China: a unicentric retrospective study.中国大陆遗传性转甲状腺素蛋白淀粉样变性:一项单中心回顾性研究。
Ann Clin Transl Neurol. 2021 Apr;8(4):831-841. doi: 10.1002/acn3.51328. Epub 2021 Mar 19.