Li Weijia, Uppal Dipan, Wang Yu-Chiang, Xu Xiaobo, Kokkinidis Damianos G, Travin Mark I, Tauras James M
Department of Medicine, Jacobi Medical Center, Albert Einstein College of Medicine, 1400 Pelham Parkway South, Bronx, NY 10461, USA.
Section of Cardiovascular Medicine, Yale University School of Medicine, 333 Cedar Street, New Haven, CT 06510, USA.
Diagnostics (Basel). 2021 May 30;11(6):996. doi: 10.3390/diagnostics11060996.
Cardiac amyloidosis is caused by the deposition of misfolded protein fibrils into the extracellular space of the heart. The diagnosis of cardiac amyloidosis remains challenging because of the heterogeneous manifestations of the disease. There are many different types of amyloidosis with light-chain (AL) amyloidosis and transthyretin (ATTR) amyloidosis being the most common types of cardiac amyloidosis. Endomyocardial biopsy is considered the gold standard for diagnosing cardiac amyloidosis and differentiating amyloid subtypes, but its use is limited because of the invasive nature of the procedure, with risks for complications and the need for specialized training and centers to perform the procedure. Radionuclide cardiac imaging has recently become the most commonly performed test for the diagnosis of ATTR amyloidosis but is of limited value for the diagnosis of AL amyloidosis. Positron emission tomography has been increasingly used for the diagnosis of cardiac amyloidosis and its applications are expected to expand in the future. Imaging protocols are under refinement to achieve better quantification of the disease burden and prediction of prognosis.
心脏淀粉样变性是由错误折叠的蛋白质原纤维沉积到心脏的细胞外间隙引起的。由于该疾病表现的异质性,心脏淀粉样变性的诊断仍然具有挑战性。有许多不同类型的淀粉样变性,其中轻链(AL)淀粉样变性和转甲状腺素蛋白(ATTR)淀粉样变性是最常见的心脏淀粉样变性类型。心内膜活检被认为是诊断心脏淀粉样变性和区分淀粉样变亚型的金标准,但由于该操作具有侵入性,存在并发症风险,且需要专业培训和专门中心来实施该操作,其应用受到限制。放射性核素心脏成像最近已成为诊断ATTR淀粉样变性最常用的检查方法,但对AL淀粉样变性的诊断价值有限。正电子发射断层扫描已越来越多地用于心脏淀粉样变性的诊断,其应用有望在未来得到扩展。成像方案正在不断完善,以更好地量化疾病负担并预测预后。