Division of Cardiology, Department of Medicine, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Division of Cardiology, Department of Internal Medicine, Seoul St. Mary's Hospital, Catholic Research Institute for Intractable Cardiovascular Disease, College of Medicine, The Catholic University of Korea, Seoul, Korea.
J Korean Med Sci. 2024 May 20;39(19):e163. doi: 10.3346/jkms.2024.39.e163.
Transthyretin amyloidosis cardiomyopathy (ATTR-CM) is an under-recognized cause of heart failure (HF) with clinical phenotypes that vary across regions and genotypes. We sought to characterize the clinical characteristics of ATTR-CM in Asia.
Data from a nationwide cohort of patients with ATTR-CM from six major tertiary centres in South Korea were analysed between 2010 and 2021. All patients underwent clinical evaluation, biochemical laboratory tests, echocardiography, and transthyretin (TTR) genotyping at the time of diagnosis. The study population comprised 105 Asian ATTR-CM patients (mean age: 69 years; male: 65.7%, wild-type ATTR-CM: 41.9%).
Among our cohort, 18% of the patients had a mean left ventricular (LV) wall thickness < 12 mm. The diagnosis of ATTR-CM increased notably during the study period (8 [7.6%] during 2010-2013 vs. 22 [21.0%] during 2014-2017 vs. 75 [71.4%] during 2018-2021). Although the duration between symptom onset and diagnosis did not differ, the proportion of patients with HF presenting mild symptoms increased during the study period (25% NYHA class I/II between 2010-2013 to 77% between 2018-2021). In contrast to other international registry data, male predominance was less prominent in wild-type ATTR-CM (68.2%). The distribution of TTR variants was also different from Western countries and from Japan. Asp38Ala was the most common mutation.
A nationwide cohort of ATTR-CM exhibited less male predominance, a proportion of patients without increased LV wall thickness, and distinct characteristics of genetic mutations, compared to cohorts in other parts of the world. Our results highlight the ethnic variation in ATTR-CM and may contribute to improving the screening process for ATTR-CM in the Asian population.
转甲状腺素蛋白淀粉样变性心肌病（ATTR-CM）是心力衰竭（HF）的一种未被充分认识的病因，其临床表型在不同地区和基因型之间存在差异。我们旨在描述亚洲人群中 ATTR-CM 的临床特征。
本研究分析了 2010 年至 2021 年期间来自韩国六个主要三级中心的ATTR-CM 全国性队列研究中的患者数据。所有患者在诊断时均接受了临床评估、生化实验室检查、超声心动图和转甲状腺素（TTR）基因分型。研究人群包括 105 例亚洲 ATTR-CM 患者（平均年龄：69 岁；男性：65.7%，野生型 ATTR-CM：41.9%）。
在我们的队列中，18%的患者左心室（LV）壁厚度<12mm。ATTR-CM 的诊断在研究期间显著增加（2010-2013 年为 8 例[7.6%]，2014-2017 年为 22 例[21.0%]，2018-2021 年为 75 例[71.4%]）。尽管症状出现到诊断的时间间隔没有差异，但在研究期间，HF 患者出现轻度症状的比例增加（2010-2013 年 NYHA 心功能分级 I/II 级为 25%，2018-2021 年为 77%）。与其他国际登记数据相比，野生型 ATTR-CM 中男性优势不明显（68.2%）。TTR 变异的分布也与西方国家和日本不同。Asp38Ala 是最常见的突变。
与世界其他地区的队列相比，全国性的 ATTR-CM 队列表现出男性优势不明显、LV 壁厚度无增加的患者比例以及基因突变的独特特征。我们的研究结果强调了 ATTR-CM 的种族差异，可能有助于改善亚洲人群中 ATTR-CM 的筛查过程。
