摘要: |
转甲状腺素蛋白心脏淀粉样变(transthyretin cardiac amyloidosis,ATTR-CA)是由转甲状腺素蛋白沉积于心肌间质,导致心力衰竭、心房颤动、传导阻滞等临床表现的限制型心肌病。其临床表现多样且非特异,故常误诊和漏诊。随着相关研究的深入和技术的发展,心电图、超声心动图、心脏磁共振、放射性同位素显像等多模态影像技术可为该病的诊断提供更多有效信息;基因检测在临床上可用于区分具体亚型。虽然该病整体预后不佳,但随着对发病机制的深入研究,有效治疗方法不断出现且治疗效果越来越好。早期识别和早期诊断对该病治疗至关重要。本文重点介绍ATTR-CA的最新诊断研究进展。 |
关键词: 淀粉样变性 转甲状腺素蛋白心脏淀粉样变 超声心动图 基因检测 |
DOI:10.12025/j.issn.1008-6358.2022.20220417 |
分类号:R542.2 |
基金项目:上海市卫生健康委员会科研项目(20194Y0272,202140291). |
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The progress in the diagnosis of transthyretin cardiac amyloidosis |
MENG Fang-min1,2, ZHOU Nian-wei1,2, PAN Cui-zhen1,2
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1.Shanghai Institute of Medical Imaging, Shanghai 200032, China;2.Department of Echocardiography, Zhongshan Hospital, Fudan University, Shanghai 200032, China
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Abstract: |
Transthyretin cardiac amyloidosis (ATTR-CA) is a restrictive cardiomyopathy in which transthyretin is deposited in the myocardial interstitium, resulting in heart failure, atrial fibrillation, and conduction block. Its clinical manifestations are diverse and non-specific, and misdiagnosis and missed diagnosis often occurr. With the development of relevant research and technology, multimodality imaging techniques such as electrocardiogram, echocardiography, cardiac magnetic resonance, radionuclide imaging could provide more valid information for its diagnosis. Genetic testing is clinically used to distinguish its subtypes. Although the overall prognosis of the disease is poor, with the continuous research on its pathogenesis, effective treatment methods have been developed and the therapeutic efficacy is getting better and better. Early recognition and diagnosis were essential for treatment of the disease. This review focused on the latest advances in diagnosis of ATTR-CA. |
Key words: cardiac amyloidosis transthyretin cardiac amyloidosis echocardiography genetic test |