Genetic and clinical characteristics of transthyretin cardiac amyloidosis in Koreans

Background/Introduction Transthyretin amyloidosis with mutations (aTTRv amyloidosis) have over 100 recognized pathogenic mutations of the TTR gene and its clinical manifestations are very heterogenous. Through the global THAOS (Transthyretin Amyloidosis Outcomes Survey) patient registry, different and several types of mutants and clinical differences have been identified. Awareness of aTTRv amyloidosis is now becoming somewhat significant amongst physicians all over the world. This is a detailed look at such efforts in Korea. Purpose We aimed to seek the geologic significance of aTTRv amyloidosis in South Korea. Methods This was an analysis of 638 Korean amyloidosis patients in a single center over a period of 16 years from 1995 to October 2021. 95 individuals were found with aTTR mutations. Results aTTRv amyloidosis constituted 14.8% (n=95) of amyloidosis patients, and the most commonly involved organ being the heart (61.7%, n=58). Unlike the rest of the world, the mixed phenotype was most common (51.0%, n=48) in Korea and the most universal mutation in Koreans were Asp38Ala, which only constitutes about 1.0% in the THAOS registry. Val30Met mutation, which comprises 76% of the mutation in the THAOS registry, was mostly associated the neurologic phenotypes. However, the same mutations in Korea mixed phenotypes with cardiac (38.4%) and neurologic (37%) symptoms. Conclusion aTTRv amyloidosis in Korea is different from other patients worldwide. The mixed phenotype was most common, emphasizing the need for heart failure management in the Korean population. Genotype wise, Koreans held a less common mutation of Asp38Ala. The most common mutation of Val30Met was more likely to be associated cardiac symptoms, which concurs with other studies that suggesting that geological features are more important than mutations itself. Funding Acknowledgement Type of funding sources: None.