Castiglione Vincenzo, Montuoro Sabrina, Orlando Giulia, Aimo Alberto, Vergaro Giuseppe, Emdin Michele
Health Science Interdisciplinary Center, Scuola Superiore Sant'Anna, Via Giuseppe Moruzzi 1, Pisa 56124, Italy.
Cardio-thoracic Department, Fondazione Toscana Gabriele Monasterio, Via Giuseppe Moruzzi 1, Pisa 56124, Italy.
Eur Heart J Suppl. 2025 Feb 19;27(Suppl 1):i88-i97. doi: 10.1093/eurheartjsupp/suae111. eCollection 2025 Feb.
Cardiac amyloidosis (CA) is a progressive, underdiagnosed condition caused by the deposition of misfolded proteins in the myocardium, forming amyloid fibrils that impair cardiac structure and function. This review highlights recent advances in the diagnosis and treatment of amyloid light-chain (AL) and transthyretin (ATTR) CA, which globally account for most cases of CA. Novel diagnostic tools, including artificial intelligence-enhanced analysis and advanced imaging modalities like positron emission tomography with amyloid-specific tracers, might improve detection rates and diagnostic accuracy to enable non-invasive subtype differentiation. Furthermore, many innovative treatments are being investigated. For AL-CA, anti-fibril therapies are showing promising results, complementing traditional chemotherapy and autologous stem cell transplantation. In ATTR-CA, gene silencing and anti-fibril therapies are being tested in clinical trials and hold promise of halting disease progression and reducing amyloid deposits, respectively.
心脏淀粉样变性（CA）是一种渐进性、诊断不足的疾病，由错误折叠的蛋白质在心肌中沉积引起，形成淀粉样纤维，损害心脏结构和功能。本综述重点介绍了淀粉样轻链（AL）和转甲状腺素蛋白（ATTR）CA诊断和治疗方面的最新进展，这两种类型在全球范围内占CA病例的大多数。新型诊断工具，包括人工智能增强分析和正电子发射断层扫描等先进成像方式以及淀粉样特异性示踪剂，可能会提高检测率和诊断准确性，以实现无创亚型鉴别。此外，许多创新疗法正在研究中。对于AL-CA，抗纤维疗法显示出有前景的结果，补充了传统化疗和自体干细胞移植。在ATTR-CA中，基因沉默和抗纤维疗法正在临床试验中进行测试，有望分别阻止疾病进展和减少淀粉样沉积物。
