Background: Hereditary transthyretin (TTR) related amyloidosis (ATTRv) is a life-threatening condition, which can potentially affect all organs. The objective was to identify the hearing status of patients with cardiac ATTRv and describe their audiological pattern.

Methods: Nineteen patients with confirmed diagnosis of ATTRv cardiac amyloidosis (CA) underwent otoscopy and audiological tests, including pure tone and speech audiometry.

Results: 74% were male, with a mean age of 72 ± 1.8 years. The main mutations were Val122Ile (n = 7) and Val30Met (n = 6). Objective hearing loss was detected in 17 patients (89%), whereas only 37% complained of hearing loss. ATTRv patients presented a different audiometric profile compared to patients of the same age with presbycusis: a higher prevalence and worse hearing thresholds compared to age-related expectations (ISO). Hearing loss affected all frequencies with, unexpectedly, mixed or conductive hearing loss (35%). According to the type of mutation, there was an increased rate of sensorineural or mixed/conductive hearing loss.

Conclusions: the present study indicates that hearing loss is more prevalent and worse in patients with ATTRv amyloidosis than in the general population, while mostly clinically under-estimated. It suggests that ATTRv deposits could infiltrate the various anatomical structures of the inner and mild ear.

背景：遗传性甲状腺素转运蛋白（TTR）相关淀粉样变性病（ATTRv）是一种威胁生命的疾病，可能会影响所有器官。目的是确定患有心脏ATTRv的患者的听力状况并描述他们的听觉模式。

方法：对确诊为ATTRv心脏淀粉样变性（CA）的19例患者进行了耳镜和听力检查，包括纯音和语音测听。

结果： 74％为男性，平均年龄为72±1.8岁。主要突变为Val122Ile（n =  7）和Val30Met（n =  6）。在17例患者中发现了客观性听力损失（89％），而只有37％的患者抱怨听力下降。与年龄相同的老花眼患者相比，ATTRv患者呈现出不同的听力统计特征：与年龄相关的期望值（ISO）相比，患病率更高，听力阈值更差。听力损失会影响所有频率，出乎意料的是混合或传导性听力损失（35％）。根据突变的类型，感觉神经性或混合/传导性听力损失的发生率增加。

结论：本研究表明，与一般人群相比，ATTRv淀粉样变性病患者的听力损失更为普遍，并且更为严重，而临床上大多被低估了。这表明ATTRv沉积物可渗入内耳和轻度耳部的各种解剖结构。