Background

Clinical characteristics and outcomes of patients with transthyretin amyloidosis cardiomyopathy (ATTR-CM) vary by region, necessitating the acquisition of country-specific evidence for proper management.

Methods

This is an observational study including sequential patients presenting in the Amyloidosis Reference Center of Greece, from 01/2014 to 12/2022. ATTR-CM was diagnosed by positive scintigraphy and exclusion of light-chain amyloidosis or positive biopsy typing. Genetic testing was performed in all cases.

Results

One-hundred and nine ATTR-CM patients were included (median age, 81 years) of which 15 carried TTR mutations (27% Val30Met). Most patients (82%) presented with heart failure and 59% with atrial fibrillation, while 10% had aortic stenosis. Importantly, 78 (71.6%) had clinically significant extracardiac manifestations (45% musculoskeletal disorder, 40% peripheral neuropathy and 33% gastrointestinal symptoms). Sixty-five (60%) received disease-specific treatment with tafamidis. Estimated median survival was 48 months; advanced NYHA class, National Amyloidosis Center stage, eGFR<45 ml/kg/1.73m², NT-pro-BNP>5000 pg/mL were associated with worse survival, while tafamidis treatment was associated with improved survival in patients with IVS≥ 12 mm.

Discussion

These are the first data describing the characteristics, management, and outcomes of patients with ATTR-CM in Greece, which could influence local guidelines.

Short title

Transthyretin cardiomyopathy in Greece

中文翻译：

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希腊转甲状腺素蛋白淀粉样变性心肌病：国家转诊中心的临床见解

背景

转甲状腺素蛋白淀粉样变性心肌病 (ATTR-CM) 患者的临床特征和结果因地区而异，因此需要获取特定国家的证据以进行适当的治疗。

方法

这是一项观察性研究，包括 2014 年 1 月至 2022 年 12 月在希腊淀粉样变性参考中心就诊的连续患者。ATTR-CM 通过阳性闪烁扫描并排除轻链淀粉样变性或阳性活检分型来诊断。所有病例均进行了基因检测。

结果

纳入 109 名 ATTR-CM 患者（中位年龄 81 岁），其中 15 名携带TTR突变（27% Val30Met）。大多数患者 (82%) 出现心力衰竭，59% 出现房颤，10% 出现主动脉瓣狭窄。重要的是，78 例（71.6%）有临床上显着的心外表现（45% 为肌肉骨骼疾病，40% 为周围神经病变，33% 为胃肠道症状）。六十五人 (60%) 接受了 Tafamidis 的疾病特异性治疗。预计中位生存期为 48 个月；NYHA 分级晚期、国家淀粉样变性中心分期、eGFR<45 ml/kg/1.73m ²、NT-pro-BNP>5000 pg/mL 与 IVS ≥ 12 患者的生存率较差相关，而 tafamidis 治疗与生存率改善相关毫米。

讨论

这些是描述希腊 ATTR-CM 患者特征、治疗和结果的第一批数据，可能会影响当地指南。

短标题

希腊转甲状腺素蛋白心肌病