Rimbas Roxana Cristina, Balinisteanu Anca, Magda Stefania Lucia, Visoiu Simona Ionela, Ciobanu Andrea Olivia, Beganu Elena, Nicula Alina Ioana, Vinereanu Dragos
Cardiology and Cardiovascular Surgery Department, University and Emergency Hospital, 050098 Bucharest, Romania.
Cardiology Department, University of Medicine and Pharmacy Carol Davila, 020021 Bucharest, Romania.
J Clin Med. 2022 Apr 22;11(9):2360. doi: 10.3390/jcm11092360.
Transthyretin amyloid cardiomyopathy (ATTR-CM) is an infiltrative disorder characterized by extracellular myocardial deposits of amyloid fibrils, with poor outcome, leading to heart failure and death, with significant treatment expenditure. In the era of a novel therapeutic arsenal of disease-modifying agents that target a myriad of pathophysiological mechanisms, timely and accurate diagnosis of ATTR-CM is crucial. Recent advances in therapeutic strategies shown to be most beneficial in the early stages of the disease have determined a paradigm shift in the screening, diagnostic algorithm, and risk classification of patients with ATTR-CM. The aim of this review is to explore the utility of novel specific non-invasive imaging parameters and biomarkers from screening to diagnosis, prognosis, risk stratification, and monitoring of the response to therapy. We will summarize the knowledge of the most recent advances in diagnostic, prognostic, and treatment tailoring parameters for early recognition, prediction of outcome, and better selection of therapeutic candidates in ATTR-CM. Moreover, we will provide input from different potential pathways involved in the pathophysiology of ATTR-CM, on top of the amyloid deposition, such as inflammation, endothelial dysfunction, reduced nitric oxide bioavailability, oxidative stress, and myocardial fibrosis, and their diagnostic, prognostic, and therapeutic implications.
转甲状腺素蛋白淀粉样变心肌病（ATTR-CM）是一种浸润性疾病，其特征是淀粉样原纤维在心肌细胞外沉积，预后较差，可导致心力衰竭和死亡，并产生巨大的治疗费用。在有多种针对无数病理生理机制的新型疾病修饰药物的治疗时代，及时准确地诊断ATTR-CM至关重要。已证明在疾病早期最有益的治疗策略的最新进展，已决定了ATTR-CM患者筛查、诊断算法及风险分类的范式转变。本综述的目的是探讨新型特异性非侵入性成像参数和生物标志物在从筛查到诊断、预后、风险分层及治疗反应监测中的效用。我们将总结在诊断、预后及治疗定制参数方面的最新进展知识，以便在ATTR-CM中早期识别、预测结局并更好地选择治疗候选者。此外，除淀粉样沉积外，我们还将提供涉及ATTR-CM病理生理学的不同潜在途径的信息，如炎症、内皮功能障碍、一氧化氮生物利用度降低、氧化应激和心肌纤维化，以及它们的诊断、预后和治疗意义。
