Scirpa Riccardo, Cittadini Edoardo, Mazzocchi Lorenzo, Tini Giacomo, Sclafani Matteo, Russo Domitilla, Imperatrice Andrea, Tropea Alessandro, Autore Camillo, Musumeci Beatrice
Division of Cardiology, Department of Clinical and Molecular Medicine, Sapienza University of Rome, Rome, Italy.
Department of Cardiology, IRCCS San Raffaele Pisana, Rome, Italy.
Front Cardiovasc Med. 2023 Mar 21;10:1151803. doi: 10.3389/fcvm.2023.1151803. eCollection 2023.
Transthyretin related cardiac amyloidosis (TTR-CA) is an infiltrative cardiomyopathy that cause heart failure with preserved ejection fraction, mainly in aging people. Due to the introduction of a non invasive diagnostic algorithm, this disease, previously considered to be rare, is increasingly recognized. The natural history of TTR-CA includes two different stages: a presymptomatic and a symptomatic stage. Due to the availability of new disease-modifying therapies, the need to reach a diagnosis in the first stage has become impelling. While in variant TTR-CA an early identification of the disease may be obtained with a genetic screening in proband's relatives, in the wild-type form it represents a challenging issue. Once the diagnosis has been made, in order to identifying patients with a higher risk of cardiovascular events and death it is necessary to focus on risk stratification. Two prognostic scores have been proposed both based on biomarkers and laboratory findings. However, a multiparametric approach combining information from electrocardiogram, echocardiogram, cardiopulmonary exercise test and cardiac magnetic resonance may be warranted for a more comprehensive risk prediction. In this review, we aim at evaluating a step by step risk stratification, providing a clinical diagnostic and prognostic approach for the management of patients with TTR-CA.
转甲状腺素蛋白相关心脏淀粉样变性（TTR-CA）是一种浸润性心肌病，主要发生在老年人中，可导致射血分数保留的心力衰竭。由于引入了非侵入性诊断算法，这种以前被认为罕见的疾病越来越受到认可。TTR-CA的自然病程包括两个不同阶段：无症状阶段和有症状阶段。由于有了新的疾病修饰疗法，在第一阶段进行诊断的需求变得迫切。虽然在变异型TTR-CA中，通过对先证者亲属进行基因筛查可以早期识别疾病，但在野生型形式中，这是一个具有挑战性的问题。一旦做出诊断，为了识别心血管事件和死亡风险较高的患者，有必要关注风险分层。已经提出了两种基于生物标志物和实验室检查结果的预后评分。然而，为了进行更全面的风险预测，可能需要一种结合心电图、超声心动图、心肺运动试验和心脏磁共振信息的多参数方法。在本综述中，我们旨在逐步评估风险分层，为TTR-CA患者的管理提供临床诊断和预后方法。
