Abstract

Introduction

Finnish gelsolin amyloidosis (AGel amyloidosis) is an inherited systemic amyloidosis with well-known ophthalmological, neurological and cutaneous symptoms. Additionally, cardiomyopathies, conduction disorders and need of cardiac pacemakers occur in some patients. This study focuses on electrocardiographic (ECG) findings in AGel amyloidosis and their relation to cardiac magnetic resonance (CMR) changes. We also assessed whether ECG abnormalities were associated with pacemaker implantation and mortality.

Materials and methods

In this cohort study, 51 genetically verified AGel amyloidosis patients (mean age 66 years) without cardiac pacemakers underwent 12-lead ECG and CMR imaging with contrast agent in 2017. Patients were followed-up for 3 years.

Results

Conduction disturbances were found in 22 patients (43%). Nine (18%) presented with first-degree atrioventricular block, six (12%) with left anterior hemiblock, seven (14%) with left or right bundle branch block and two (4%) with non-specific intraventricular conduction delay. Low QRS voltage was present in two (4%) patients. Late gadolinium enhancement (LGE) concentrating on the interventricular septum and inferior parts of the heart was present in 19 (86%) patients with conduction abnormalities. During the follow-up, only one patient received a pacemaker, and one patient died.

Discussion

Conduction disorders and septal LGE are common in AGel amyloidosis, whereas other ECG and CMR findings typically observed in most common cardiac amyloidosis types were rare. Septal pathology seen in CMR may interfere with the cardiac conduction system in AGel amyloidosis, explaining conduction disorders, although pacemaker therapy is rarely required.

中文翻译：

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芬兰凝溶胶蛋白淀粉样变性患者的心脏表现

摘要

介绍

芬兰凝溶胶蛋白淀粉样变性（AGel 淀粉样变性）是一种遗传性系统性淀粉样变性，具有众所周知的眼科、神经和皮肤症状。此外，一些患者会出现心肌病、传导障碍和需要心脏起搏器。本研究侧重于 AGel 淀粉样变性的心电图 (ECG) 发现及其与心脏磁共振 (CMR) 变化的关系。我们还评估了心电图异常是否与起搏器植入和死亡率相关。

材料和方法

在这项队列研究中，2017 年 51 名经过基因验证且未安装心脏起搏器的 AGel 淀粉样变性患者（平均年龄 66 岁）接受了 12 导联心电图和造影剂 CMR 成像。患者随访 3 年。

结果

在 22 名患者 (43%) 中发现了传导障碍。9 人 (18%) 出现一级房室传导阻滞，6 人 (12%) 出现左前半传导阻滞，7 人 (14%) 出现左或右束支传导阻滞，2 人 (4%) 出现非特异性心室内传导延迟。两名 (4%) 患者出现低 QRS 电压。19 名 (86%) 传导异常患者出现了集中在室间隔和心脏下部的晚期钆增强 (LGE)。随访期间，仅一名患者接受了起搏器，一名患者死亡。

讨论

传导障碍和间隔 LGE 在 AGel 淀粉样变性中很常见，而在最常见的心脏淀粉样变性类型中通常观察到的其他 ECG 和 CMR 发现很少见。CMR 中看到的间隔病变可能会干扰 AGel 淀粉样变性的心脏传导系统，解释传导障碍，尽管很少需要起搏器治疗。