Division of Cardiology, Department of Medicine, Columbia University Medical Center, New York (M.S.M., S.B.).
Department of Cardiology, Center for Cardiac Amyloidosis, GRC Amyloid Research Institute, DHU A-TVB, APHP CHU Henri Mondor and Université Paris Est Créteil, France (T.D.).
Circ Heart Fail. 2019 Sep;12(9):e006075. doi: 10.1161/CIRCHEARTFAILURE.119.006075. Epub 2019 Sep 4.
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.
心肌症是转甲状腺素蛋白淀粉样变性（ATTR）的一种表现形式，这是一种未被充分认识的系统性疾病，转甲状腺素蛋白错误折叠形成纤维，在各种组织和器官中沉积。ATTR 淀粉样变性会导致身体虚弱，预期寿命缩短，尤其是那些有心功能障碍的患者，但最近出现了多种治疗选择。由于缺乏疾病意识和临床表现的异质性，考虑到这是一种罕见疾病，ATTR 淀粉样变性的发病率可能比想象的要高，尤其是在老年人中。由于缺乏疾病意识和临床表现的异质性，诊断往往被延迟。鉴于最近出现了有效的治疗方法，早期识别和诊断尤为关键，因为在疾病早期治疗可能更有效。淀粉样变性研究联合会最近召集了一组 ATTR 淀粉样变性专家，他们通过反复协商，就疑诊、诊断和疾病特征方面的最佳实践达成了一致意见。这篇综述描述了这些与心肌症相关的ATTR 共识推荐意见，旨在帮助心脏病专家和其他人员识别和诊断与心肌症相关的ATTR。本综述包括对危险信号体征和症状的概述，以及推荐的诊断方法，包括单克隆蛋白检测、闪烁扫描或活检，如果确定与心肌症相关的ATTR，则进行 TTR 基因分型。
