世界心脏联合会关于转甲状腺素淀粉样变性心肌病(ATTR-CM)的共识。

IF 3 3区 医学 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS
Global Heart Pub Date : 2023-10-26 eCollection Date: 2023-01-01 DOI:10.5334/gh.1262
Dulce Brito, Fabiano Castro Albrecht, Diego Perez de Arenaza, Nicole Bart, Nathan Better, Isabel Carvajal-Juarez, Isabel Conceição, Thibaud Damy, Sharmila Dorbala, Jean-Christophe Fidalgo, Pablo Garcia-Pavia, Junbo Ge, Julian D Gillmore, Jacek Grzybowski, Laura Obici, Daniel Piñero, Claudio Rapezzi, Mitsuharu Ueda, Fausto J Pinto
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引用次数: 0

摘要

转甲状腺素淀粉样心肌病(ATTR-CM)是一种进行性致命疾病,需要早期诊断、治疗和特殊治疗。新的疾病改良疗法的出现使成功的治疗成为现实。转甲状腺素淀粉样心肌病可以是与年龄相关的(野生型),也可以是由TTR基因突变引起的(遗传型、遗传型)。它是一种系统性疾病,虽然遗传形式可能表现出各种症状,但通常存在主要的心脏表型。本文件旨在提供ATTR-CM淀粉样变性的概述,重点关注心脏受累,这是预后的最关键因素。鉴于特定治疗在疾病早期更有效,它将讨论早期诊断和患者管理的可用工具,并将强调多学科方法和专门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一个由来自13个国家的18名TTR淀粉样变性专业临床医生组成的小组,以及患者倡导组织淀粉样变性联盟的一名代表。本文件基于对已发表文献、专家意见、登记处数据、患者观点、治疗选择、正在进行的发展以及通过卓越中心的存在所取得的进展的审查。从患者的角度来看,提高疾病意识对于实现早期准确诊断至关重要。患者还寻求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。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

World Heart Federation Consensus on Transthyretin Amyloidosis Cardiomyopathy (ATTR-CM).

World Heart Federation Consensus on Transthyretin Amyloidosis Cardiomyopathy (ATTR-CM).

World Heart Federation Consensus on Transthyretin Amyloidosis Cardiomyopathy (ATTR-CM).

World Heart Federation Consensus on Transthyretin Amyloidosis Cardiomyopathy (ATTR-CM).

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.

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来源期刊
Global Heart
Global Heart Medicine-Cardiology and Cardiovascular Medicine
CiteScore
5.70
自引率
5.40%
发文量
77
审稿时长
5 weeks
期刊介绍: Global Heart offers a forum for dialogue and education on research, developments, trends, solutions and public health programs related to the prevention and control of cardiovascular diseases (CVDs) worldwide, with a special focus on low- and middle-income countries (LMICs). Manuscripts should address not only the extent or epidemiology of the problem, but also describe interventions to effectively control and prevent CVDs and the underlying factors. The emphasis should be on approaches applicable in settings with limited resources. Economic evaluations of successful interventions are particularly welcome. We will also consider negative findings if important. While reports of hospital or clinic-based treatments are not excluded, particularly if they have broad implications for cost-effective disease control or prevention, we give priority to papers addressing community-based activities. We encourage submissions on cardiovascular surveillance and health policies, professional education, ethical issues and technological innovations related to prevention. Global Heart is particularly interested in publishing data from updated national or regional demographic health surveys, World Health Organization or Global Burden of Disease data, large clinical disease databases or registries. Systematic reviews or meta-analyses on globally relevant topics are welcome. We will also consider clinical research that has special relevance to LMICs, e.g. using validated instruments to assess health-related quality-of-life in patients from LMICs, innovative diagnostic-therapeutic applications, real-world effectiveness clinical trials, research methods (innovative methodologic papers, with emphasis on low-cost research methods or novel application of methods in low resource settings), and papers pertaining to cardiovascular health promotion and policy (quantitative evaluation of health programs.
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