Dicorato Marco Maria, Basile Paolo, Muscogiuri Giuseppe, Carella Maria Cristina, Naccarati Maria Ludovica, Dentamaro Ilaria, Guglielmo Marco, Baggiano Andrea, Mushtaq Saima, Fusini Laura, Pontone Gianluca, Forleo Cinzia, Ciccone Marco Matteo, Guaricci Andrea Igoren
Interdisciplinary Department of Medicine, University of Bari "Aldo Moro", Polyclinic University Hospital, 70124 Bari, Italy.
Department of Radiology, IRCCS Istituto Auxologico Italiano, San Luca Hospital, 20149 Milan, Italy.
Diagnostics (Basel). 2024 Oct 9;14(19):2249. doi: 10.3390/diagnostics14192249.
Cardiac amyloidosis (CA) is a cardiac storage disease caused by the progressive extracellular deposition of misfolded proteins in the myocardium. Despite the increasing interest in this pathology, it remains an underdiagnosed condition. Non-invasive diagnostic techniques play a central role in the suspicion and detection of CA, also thanks to the continuous scientific and technological advances in these tools. The 12-lead electrocardiography is an inexpensive and reproducible test with a diagnostic accuracy that, in some cases, exceeds that of imaging techniques, as recent studies have shown. Echocardiography is the first-line imaging modality, although none of its parameters are pathognomonic. According to the 2023 ESC Guidelines, a left ventricular wall thickness ≥ 12 mm is mandatory for the suspicion of CA, making this technique crucial. Cardiac magnetic resonance provides high-resolution images associated with tissue characterization. The use of contrast and non-contrast sequences enhances the diagnostic power of this imaging modality. Nuclear imaging techniques, including bone scintigraphy and positron emission tomography, allow the detection of amyloid deposition in the heart, and their role is also central in assessing the prognosis and response to therapy. The role of computed tomography was recently evaluated by several studies, above in population affected by aortic stenosis undergoing transcatheter aortic valve replacement, with promising results. Finally, machine learning and artificial intelligence-derived algorithms are gaining ground in this scenario and provide the basis for future research. Understanding the new insights into non-invasive diagnostic techniques is critical to better diagnose and manage patients with CA and improve their survival.
心脏淀粉样变性（CA）是一种心脏贮积病，由错误折叠的蛋白质在心肌中进行性细胞外沉积所致。尽管对这种疾病的关注度日益增加，但它仍然是一种诊断不足的病症。非侵入性诊断技术在CA的怀疑和检测中发挥着核心作用，这也要归功于这些工具在科学技术方面的不断进步。如最近的研究所示，12导联心电图是一种廉价且可重复的检查，其诊断准确性在某些情况下超过了成像技术。超声心动图是一线成像方式，尽管其任何参数都不具有确诊意义。根据2023年欧洲心脏病学会（ESC）指南，怀疑CA时左心室壁厚度≥12 mm是必要条件，这使得这项技术至关重要。心脏磁共振成像可提供与组织特征相关的高分辨率图像。使用对比剂和非对比剂序列可增强这种成像方式的诊断能力。核成像技术，包括骨闪烁显像和正电子发射断层扫描，可检测心脏中的淀粉样蛋白沉积，它们在评估预后和治疗反应方面也起着核心作用。计算机断层扫描的作用最近在多项研究中得到评估，尤其是在接受经导管主动脉瓣置换术的主动脉瓣狭窄患者中，结果很有前景。最后，机器学习和人工智能衍生算法在这种情况下正逐渐兴起，并为未来的研究提供了基础。了解非侵入性诊断技术的新见解对于更好地诊断和管理CA患者以及提高他们的生存率至关重要。
