Bukhari Syed, Bashir Zubair, Shah Nishant, Patel Yash, Hulten Edward
Department of Cardiovascular Medicine, Johns Hopkins University, Baltimore MD.
Department of Cardiology, University of Texas Medical Branch, Galveston TX.
R I Med J (2013). 2025 Feb 3;108(2):49-55.
Cardiac amyloidosis (CA) is an infiltrative disease that results from the deposition of amyloid fibrils in the myocardium, resulting in restrictive cardiomyopathy. The amyloid fibrils are predominantly derived from two parent proteins, immunoglobulin light chain (AL) and transthyretin (ATTR), and ATTR is further classified into hereditary (ATTRv) and wild-type (ATTRwt) based on the presence or absence, respectively, of a mutation in the transthyretin gene. Once thought to be a rare entity, CA is increasingly recognized as a significant cause of heart failure due to improved clinical awareness and better diagnostic imaging. Advances in multimodality imaging, including echocardiography, cardiac magnetic resonance imaging, and CA radionuclide imaging, have markedly enhanced the non-invasive detection of this condition. While ATTR can often be diagnosed with CA radionuclide imaging in conjunction with the absence of paraproteinemia, the diagnosis of AL typically requires histological confirmation. This review, with the help of a case presentation, highlights the critical role of noninvasive imaging modalities in early detection and quantification of disease burden, which are crucial for timely treatment and improvement in patient outcomes.
心脏淀粉样变性(CA)是一种浸润性疾病,由淀粉样原纤维在心肌中沉积所致,可导致限制性心肌病。淀粉样原纤维主要来源于两种母体蛋白,即免疫球蛋白轻链(AL)和转甲状腺素蛋白(ATTR),根据转甲状腺素蛋白基因中是否存在突变,ATTR进一步分为遗传性(ATTRv)和野生型(ATTRwt)。CA曾被认为是一种罕见疾病,但由于临床认知的提高和诊断成像技术的改进,它越来越被视为心力衰竭的重要病因。多模态成像技术的进步,包括超声心动图、心脏磁共振成像和CA放射性核素成像,显著提高了对这种疾病的无创检测能力。虽然ATTR通常可通过CA放射性核素成像结合无副蛋白血症来诊断,但AL的诊断通常需要组织学证实。本综述借助一个病例展示,强调了无创成像模式在疾病负担的早期检测和量化中的关键作用,这对于及时治疗和改善患者预后至关重要。