Abstract

Objective

To investigate the clinicopathological features of sporadic amyloid transthyretin (ATTR) amyloidosis.

Methods

We evaluated 1698 serial Japanese forensic autopsy patients. The extent and amount of ATTR deposition in the 16 cardiac regions, including the conduction system, were semiquantitatively evaluated. Ward’s hierarchical cluster analysis was applied to classify the cases into subgroups. Also, the relationship between ATTR and amyloid atrial natriuretic factor (AANF) was evaluated.

Results

Forty-four cardiac ATTR amyloidosis patients (mean age 85.4 ± 5.7 years; 22 men) without history of hereditary polyneuropathy were identified (2.6% of all patients, 8.8% of those aged ≥80 years). All the 44 patients were not in the bedridden state and died-out-of-hospital scenarios. Of these, 10 (23%) were sudden death. Cluster analysis classified the patients into three groups (mild, atria-predominant and the severe deposition group). Amyloid deposition had already started simultaneously from each atrium and ventricle; however, the atrial septum and basilar ventricular septum were the sites that revealed the most frequent deposition. Also, a possible association between ATTR and AANF deposits was identified.

Conclusions

Sporadic ATTR amyloidosis patients might already be susceptible to a risk for sudden death even from an early-phase. Also, ATTR amyloid deposition in such cases might progress with a certain degree of regularity.

中文翻译：

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临床未确诊的散发性转甲状腺素蛋白心脏淀粉样变性的临床病理学特征：基于法医尸检的系列

摘要

客观的

探讨散发性转甲状腺素蛋白（ATTR）淀粉样变性的临床病理特征。

方法

我们评估了 1698 名日本法医尸检患者。对包括传导系统在内的 16 个心脏区域的 ATTR 沉积程度和数量进行了半定量评估。应用 Ward 的层次聚类分析将病例分类为亚组。此外，还评估了 ATTR 与淀粉样蛋白心钠素 (AANF) 之间的关系。

结果

确定了 44 名无遗传性多发性神经病史的心脏 ATTR 淀粉样变性患者（平均年龄 85.4 ± 5.7 岁；22 名男性）（占所有患者的 2.6%，年龄≥80 岁的患者占 8.8%）。所有 44 名患者均未处于卧床状态和院外死亡情况。其中，10 人（23%）是猝死。聚类分析将患者分为三组（轻度、心房为主和重度沉积组）。每个心房和心室已经同时开始淀粉样蛋白沉积；然而，房间隔和基底室间隔是显示最常见沉积的部位。此外，还确定了 ATTR 和 AANF 存款之间可能存在的关联。

结论

即使在早期阶段，散发性 ATTR 淀粉样变性患者也可能已经容易发生猝死风险。此外，在这种情况下，ATTR 淀粉样蛋白沉积可能具有一定程度的规律性。