Division of Cardiology, University of Texas Medical Branch, Galveston, TX, USA.
The Rotherham NHS Foundation Trust, United Kingdom.
Curr Probl Cardiol. 2024 Dec;49(12):102858. doi: 10.1016/j.cpcardiol.2024.102858. Epub 2024 Sep 19.
Cardiac amyloidosis (CA) is an infiltrative restrictive cardiomyopathy caused by the deposition of amyloid fibrils in the myocardium, presenting primarily as transthyretin cardiac amyloidosis (ATTR) and immunoglobulin light chain cardiac amyloidosis (AL). ATTR is further classified into wild-type (ATTRwt) and hereditary (ATTRv) based on transthyretin gene mutation. The disease is increasingly recognized as a significant cause of heart failure. Advances in diagnostic modalities, including electrocardiography, echocardiography, cardiac magnetic resonance imaging, and technetium pyrophosphate scintigraphy, have revolutionized the non-invasive diagnosis of CA. While ATTR can often be diagnosed with scintigraphy, AL typically requires histological confirmation. This review explores these diagnostic tools, emphasizing their role in early detection and quantification of disease burden, which are crucial for timely treatment and prognostication. This comprehensive overview aims to aid clinicians in efficiently diagnosing CA, ultimately improving patient outcomes.
心脏淀粉样变性(CA)是一种浸润性限制型心肌病,由心肌中淀粉样纤维的沉积引起,主要表现为转甲状腺素蛋白心脏淀粉样变性(ATTR)和免疫球蛋白轻链心脏淀粉样变性(AL)。根据转甲状腺素蛋白基因突变,ATTR 进一步分为野生型(ATTRwt)和遗传性(ATTRv)。该疾病日益被认为是心力衰竭的一个重要原因。诊断方式的进步,包括心电图、超声心动图、心脏磁共振成像和焦磷酸锝[99mTc]闪烁扫描,彻底改变了 CA 的非侵入性诊断。虽然闪烁扫描通常可以诊断 ATTR,但 AL 通常需要组织学确认。本综述探讨了这些诊断工具,强调了它们在早期检测和量化疾病负担方面的作用,这对及时治疗和预后至关重要。本综述旨在帮助临床医生有效地诊断 CA,最终改善患者的预后。