背景:转甲状腺素蛋白淀粉样变性心肌病(ATTR-CM)是心力衰竭(HF)的公认原因,其临床表型因区域和基因型而异。我们试图描述亚洲ATTR-CM的临床特征。
方法:分析了2010年至2021年韩国六个主要三级中心的ATTR-CM患者的全国队列数据。所有患者均接受临床评估,生化实验室检查,超声心动图,和在诊断时进行转甲状腺素蛋白(TTR)基因分型。研究人群包括105名亚洲ATTR-CM患者(平均年龄:69岁;男性:65.7%,野生型ATTR-CM:41.9%)。
结果:在我们的队列中,18%的患者具有平均左心室(LV)壁厚度<12mm。在研究期间,ATTR-CM的诊断显着增加(2010-2013年为8[7.6%]22[21.0%]在2014-2017年与2018-2021年期间为75[71.4%])。尽管症状发作和诊断之间的持续时间没有差异,在研究期间,出现轻度症状的HF患者比例增加(2010-2013年间,NYHAI/II级为25%,2018-2021年间为77%).与其他国际登记册数据相比,在野生型ATTR-CM中,男性优势不明显(68.2%)。TTR变体的分布也不同于西方国家和日本。Asp38Ala是最常见的突变。
结论:全国范围的ATTR-CM队列显示男性优势较少,左心室壁厚无增加的患者比例,和独特的基因突变特征,与世界其他地区的同伙相比。我们的结果突出了ATTR-CM的种族差异,并可能有助于改善亚洲人群ATTR-CM的筛查过程。
BACKGROUND: 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.
METHODS: 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%).
RESULTS: 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.
CONCLUSIONS: 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.