Cardiomyopathy is a manifestation of transthyretin amyloidosis (ATTR), which is an underrecognized systemic disease whereby the transthyretin protein misfolds to form fibrils that deposit in various tissues and organs. ATTR amyloidosis is debilitating and associated with poor life expectancy, especially in those with cardiac dysfunction, but a variety of treatment options have recently become available. Considered a rare disease, ATTR amyloidosis may be more prevalent than thought, particularly in older persons. Diagnosis is often delayed because of a lack of disease awareness and the heterogeneity of symptoms at presentation. Given the recent availability of effective treatments, early recognition and diagnosis are especially critical because treatment is likely more effective earlier in the disease course. The Amyloidosis Research Consortium recently convened a group of experts in ATTR amyloidosis who, through an iterative process, agreed on best practices for suspicion, diagnosis, and characterization of disease. This review describes these consensus recommendations for ATTR associated with cardiomyopathy as a resource to aid cardiologists and others in the recognition and diagnosis of ATTR associated with cardiomyopathy. Included in this review is an overview of red flag signs and symptoms and a recommended diagnostic approach, including testing for monoclonal protein, scintigraphy, or biopsy and, if ATTR associated with cardiomyopathy is identified, TTR genotyping.

中文翻译：

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怀疑和诊断运甲状腺素蛋白心脏淀粉样变性的专家共识建议。

心肌病是运甲状腺素蛋白淀粉样变性病（ATTR）的一种表现，这是一种未被充分认识的全身性疾病，运甲状腺素蛋白蛋白错误折叠形成原纤维，并沉积在各种组织和器官中。ATTR淀粉样变性病使人衰弱，并且与预期寿命差有关，尤其是在那些患有心脏功能障碍的人中，但是最近有多种治疗选择可用。被认为是罕见的疾病，ATTR淀粉样变性病可能比想像中更为普遍，特别是在老年人中。由于缺乏对疾病的认识以及出现时症状的异质性，通常会延迟诊断。鉴于最近有有效的治疗方法，早期识别和诊断尤为重要，因为在病程的早期治疗可能更有效。淀粉样变性研究协会最近召集了一组ATTR淀粉样变性专家，他们通过反复的过程，就怀疑，诊断和表征疾病的最佳实践达成了一致。这篇综述描述了与心肌病相关的ATTR的这些共识性建议，作为帮助心脏病专家和其他人识别和诊断与心肌病相关的ATTR的资源。这篇综述包括红旗症状和体征的概述以及推荐的诊断方法，包括检测单克隆蛋白，闪烁显像或活检，如果鉴定出与心肌病相关的ATTR，则进行TTR基因分型。这篇综述描述了与心肌病相关的ATTR的这些共识性建议，作为帮助心脏病专家和其他人识别和诊断与心肌病相关的ATTR的资源。这篇综述包括红旗症状和体征的概述以及推荐的诊断方法，包括检测单克隆蛋白，闪烁显像或活检，如果鉴定出与心肌病相关的ATTR，则进行TTR基因分型。这篇综述描述了与心肌病相关的ATTR的这些共识性建议，作为帮助心脏病专家和其他人识别和诊断与心肌病相关的ATTR的资源。这篇综述包括红旗症状和体征的概述以及推荐的诊断方法，包括检测单克隆蛋白，闪烁显像或活检，如果鉴定出与心肌病相关的ATTR，则进行TTR基因分型。