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心脏淀粉样变的流行病学和临床表现。

Epidemiology and clinical manifestations of cardiac amyloidosis.

机构信息

Department of Cardiology, University of Rochester Medical Center, Rochester, NY, USA.

Henry Ford West Bloomfield Hospital, Heart and Vascular Institute, West Bloomfield, MI, 48322, USA.

出版信息

Heart Fail Rev. 2022 Sep;27(5):1471-1484. doi: 10.1007/s10741-021-10162-1. Epub 2021 Oct 25.

Abstract

Cardiac amyloidosis, once considered a rare disease, has garnered significant attention over the last few years due to three key reasons: first, increased recognition of this disease in conjunction with various common cardiac conditions such as heart failure with preserved ejection fraction and aortic stenosis; second, due to the advent of promising new therapies for light chain disease (AL), transthyretin (ATTR) cardiomyopathy, and amyloid neuropathy; finally, the advancements in cardiac imaging including echocardiography, magnetic resonance imaging, and nuclear cardiac scintigraphy aid in non-biopsy diagnosis of ATTR cardiac amyloidosis. The hereditary forms of ATTR have further come into importance with the availability of genetic testing and increased prevalence of certain mutations in African Americans. Recognition of non-cardiac clues to this disease has gained importance and reiterates that high clinical suspicion, detailed patient history, and examination with appropriate use of imaging are vital to confirm the diagnosis.

摘要

心脏淀粉样变曾被认为是一种罕见疾病,但在过去几年中,由于以下三个关键原因引起了广泛关注:首先,随着人们对心力衰竭伴射血分数保留和主动脉瓣狭窄等常见心脏疾病的认识不断提高,心脏淀粉样变也越来越受到关注;其次,由于针对轻链疾病 (AL)、转甲状腺素蛋白 (ATTR) 心肌病和淀粉样神经病变的有前途的新疗法的出现;最后,心脏成像技术的进步,包括超声心动图、磁共振成像和核心脏闪烁显像,有助于非活检诊断ATTR 心脏淀粉样变。随着遗传性 ATTR 检测的普及和某些突变在非裔美国人中的发病率增加,遗传性 ATTR 变得更加重要。对这种疾病的非心脏线索的认识也变得更加重要,再次强调高度的临床怀疑、详细的患者病史以及适当使用影像学检查对于确认诊断至关重要。

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