Diagnostic Pitfall and Clinical Characteristics of Variant Versus Wild-Type Transthyretin Amyloid Cardiomyopathy in Asian Population: The Korean Nationwide Cohort Study

• DOI: 10.3346/jkms.2024.39.e163
• Publication Date: 2024-05-13T02:47:36Z
• Authors: Darae Kim; Jong-Chan Youn; Hye Won Lee; Jaewon Oh; Jung-Woo Son; Hyun-Jai Cho; Seul Lee; Nishant R. Shah; Michelle M. Kittl...; Eun-Seok Jeon
• Keywords: Male; Heart Failure; Aged, 80 and over; Amyloid Neuropathies, Familial; Genotype; Middle Aged; Cohort Studies; Asian People; Echocardiography; Republic of Korea; Mutation; Humans; Prealbumin; Original Article; Female; Cardiomyopathies; Aged

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 characteristics ATTR-CM in Asia. Data from a nationwide cohort patients six major tertiary centres South Korea were analysed between 2010 2021. All underwent evaluation, biochemical laboratory tests, echocardiography, transthyretin (TTR) genotyping at time diagnosis. The study population comprised 105 Asian (mean age: 69 years; male: 65.7%, wild-type ATTR-CM: 41.9%). Among our cohort, 18% had mean left ventricular (LV) wall thickness < 12 mm. diagnosis increased notably during period (8 [7.6%] 2010-2013 vs. 22 [21.0%] 2014-2017 75 [71.4%] 2018-2021). Although duration symptom onset did not differ, proportion HF presenting mild symptoms (25% NYHA class I/II 77% In contrast other international registry data, male predominance was less prominent (68.2%). distribution TTR variants also different Western countries Japan. Asp38Ala most common mutation. A exhibited predominance, without LV thickness, distinct genetic mutations, compared cohorts parts world. Our results highlight ethnic variation may contribute improving screening process for population.