Department of Cardiology, Centro Hospitalar Universitário Lisboa Norte, CAML, CCUL@RISE, Faculdade de Medicina, Universidade de Lisboa, Lisboa, Portugal.
Dante Pazzanese Institute of Cardiology - Cardiac Amyloidosis Center Dante Pazzanese Institute, São Paulo, Brazil.
Glob Heart. 2023 Oct 26;18(1):59. doi: 10.5334/gh.1262. eCollection 2023.
Transthyretin amyloid cardiomyopathy (ATTR-CM) is a progressive and fatal condition that requires early diagnosis, management, and specific treatment. The availability of new disease-modifying therapies has made successful treatment a reality. Transthyretin amyloid cardiomyopathy can be either age-related (wild-type form) or caused by mutations in the TTR gene (genetic, hereditary forms). It is a systemic disease, and while the genetic forms may exhibit a variety of symptoms, a predominant cardiac phenotype is often present. This document aims to provide an overview of ATTR-CM amyloidosis focusing on cardiac involvement, which is the most critical factor for prognosis. It will discuss the available tools for early diagnosis and patient management, given that specific treatments are more effective in the early stages of the disease, and will highlight the importance of a multidisciplinary approach and of specialized amyloidosis centres. To accomplish these goals, the World Heart Federation assembled a panel of 18 expert clinicians specialized in TTR amyloidosis from 13 countries, along with a representative from the Amyloidosis Alliance, a patient advocacy group. This document is based on a review of published literature, expert opinions, registries data, patients' perspectives, treatment options, and ongoing developments, as well as the progress made possible via the existence of centres of excellence. From the patients' perspective, increasing disease awareness is crucial to achieving an early and accurate diagnosis. Patients also seek to receive care at specialized amyloidosis centres and be fully informed about their treatment and prognosis.
转甲状腺素蛋白淀粉样心肌病（ATTR-CM）是一种进行性和致命性疾病，需要早期诊断、管理和特定治疗。新型疾病修饰疗法的出现使成功治疗成为可能。转甲状腺素蛋白淀粉样心肌病既可以是年龄相关性的（野生型形式），也可以是由 TTR 基因突变引起的（遗传、遗传性形式）。它是一种全身性疾病，虽然遗传形式可能表现出多种症状，但通常存在主要的心脏表型。本文旨在重点关注心脏受累情况，提供有关 ATTR-CM 淀粉样变性的概述，因为心脏受累是预后的关键因素。本文将讨论早期诊断和患者管理的可用工具，因为在疾病的早期阶段，特定治疗更为有效，并强调多学科方法和专门的淀粉样变性中心的重要性。为了实现这些目标，世界心脏联合会召集了来自 13 个国家的 18 名专门从事 TTR 淀粉样变性的临床专家以及来自淀粉样变性联盟（一个患者倡导组织）的代表组成专家组。本文基于对已发表文献、专家意见、登记数据、患者观点、治疗选择和正在进行的发展的回顾，以及通过卓越中心的存在而取得的进展。从患者的角度来看，提高疾病意识对于实现早期和准确诊断至关重要。患者还希望在专门的淀粉样变性中心接受治疗，并充分了解他们的治疗和预后。
