Brown University, Providence, RI, USA.
TidalHealth Peninsula Regional, Salisbury, MD, USA.
J Investig Med. 2024 Oct;72(7):620-632. doi: 10.1177/10815589241261279. Epub 2024 Aug 6.
Cardiac amyloidosis (CA) is an infiltrative restrictive cardiomyopathy caused by the deposition of amyloid fibrils in the myocardium. It manifests in two primary subtypes: transthyretin cardiac amyloidosis (ATTR) and immunoglobulin light chain cardiac amyloidosis (AL). ATTR is further classified into wild-type and hereditary based on transthyretin gene mutation. Advances in diagnostics and therapeutics have transformed CA from a rare and untreatable condition to a more prevalent and manageable disease. Noninvasive diagnostic tools such as electrocardiography, echocardiography, and cardiac magnetic resonance can raise suspicion for CA; bone scintigraphy can non-invasively confirm ATTR, while AL necessitates histological confirmation. The severity of ATTR and AL can be assessed through serum biomarker-based staging. Treatment approaches differ, ranging from silencing or stabilizing transthyretin and degrading amyloid fibrils in ATTR to employing anti-plasma cell therapies and autologous stem cell transplantation in AL.
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。它表现为两种主要亚型: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)。ATTR 根据转甲状腺素蛋白基因突变进一步分为野生型和遗传性。诊断和治疗的进展已经将 CA 从一种罕见且无法治疗的疾病转变为更为普遍且可管理的疾病。心电图、超声心动图和心脏磁共振等非侵入性诊断工具可以提高对 CA 的怀疑;骨闪烁扫描可以非侵入性地确认 ATTR,而 AL 需要组织学确认。基于血清生物标志物的分期可以评估 ATTR 和 AL 的严重程度。治疗方法不同,从沉默或稳定转甲状腺素蛋白和降解 ATTR 中的淀粉样纤维到在 AL 中使用抗浆细胞疗法和自体干细胞移植。