Transthyretin cardiac amyloidosis (ATTR-CA) is an increasingly recognized cause of heart failure (HF) and mortality worldwide. Advances in non-invasive diagnosis, coupled with the development of effective treatments, have shifted ATTR-CA from a rare and untreatable disease to a relatively prevalent condition that clinicians should consider on a daily basis. Amyloid fibril formation results from age-related failure of homoeostatic mechanisms in wild-type ATTR (ATTRwt) amyloidosis (non-hereditary form) or destabilizing mutations in variant ATTR (ATTRv) amyloidosis (hereditary form). Longitudinal large-scale studies in the United States suggest an incidence of cardiac amyloidosis in the contemporary era of 17 per 100 000, which has increased from a previous estimate of 0.5 per 100 000, which was almost certainly due to misdiagnosis and underestimated. The presence and degree of cardiac involvement is the leading cause of mortality both in ATTRwt and ATTRv amyloidosis, and can be identified in up to 15% of patients hospitalized for HF with preserved ejection fraction. Associated features, such as carpal tunnel syndrome, can preceed by several years the development of symptomatic HF and may serve as early disease markers. Echocardiography and cardiac magnetic resonance raise suspicion of disease and might offer markers of treatment response at a myocardial level, such as extracellular volume quantification. Radionuclide scintigraphy with ‘bone’ tracers coupled with biochemical tests may differentiate ATTR from light chain amyloidosis. Therapies able to slow or halt ATTR-CA progression and increase survival are now available. In this evolving scenario, early disease recognition is paramount to derive the greatest benefit from treatment.

中文翻译：

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转甲状腺素蛋白心肌淀粉样变性

甲状腺素运载蛋白心脏淀粉样变性 (ATTR-CA) 是全世界日益公认的导致心力衰竭 (HF) 和死亡率的原因。无创诊断的进步，加上有效治疗的发展，已将 ATTR-CA 从一种罕见且无法治愈的疾病转变为临床医生每天应考虑的相对普遍的疾病。淀粉样蛋白原纤维的形成是由于野生型 ATTR (ATTRwt) 淀粉样变性（非遗传性形式）中同源稳态机制的年龄相关性失败或变体 ATTR (ATTRv) 淀粉样变性（遗传性形式）中的不稳定突变所致。美国的纵向大规模研究表明，当代心脏淀粉样变性的发病率为每 10 万人 17 人，高于之前估计的每 10 万人 0.​​5 人，这几乎可以肯定是由于误诊和低估所致。心脏受累的存在和程度是 ATTRwt 和 ATTRv 淀粉样变性患者死亡的主要原因，并且可以在高达 15% 的射血分数保留的 HF 住院患者中发现。相关特征，如腕管综合症，可在症状性心力衰竭发生前几年出现，并可作为早期疾病标志物。超声心动图和心脏磁共振提高了对疾病的怀疑，并可能提供心肌水平治疗反应的标志物，例如细胞外体积定量。带有“骨”示踪剂的放射性核素闪烁显像结合生化测试可以区分 ATTR 和轻链淀粉样变性。现在可以使用能够减缓或阻止 ATTR-CA 进展并提高生存率的疗法。在这种不断发展的情况下，