Tafamidis decreased cardiac amyloidosis deposition in patients with Ala97Ser hereditary transthyretin cardiomyopathy: a 12-month follow-up cohort study

• Published in: Orphanet journal of rare diseases Vol. 18; no. 1; pp. 1 - 9
• Main Authors: Tsai, Cheng-Hsuan, Chao, Chi-Chao, Hsieh, Sung-Tsang, Yu, An-Li, Wu, Yuan-Kun, Cheng, Mei-Fang, Lee, Ming-Jen, Chou, Chia-Hung, Shun, Chia-Tung, Hsueh, Hsueh-Wen, Jyh-Ming Juang, Jimmy, Tseng, Ping-Huei, Su, Mao-Yuan, Lin, Yen-Hung
• Format: Journal Article
• Language: English
• Published: London BioMed Central Ltd 13.09.2023; BioMed Central; BMC
• Subjects: Amyloid; Amyloidosis; Brain natriuretic peptide; Cardiac magnetic resonance; Cardiac patients; Cardiomyopathy; Care and treatment; Cohort analysis; Electrocardiography; Enrollments; Extracellular volume; Heart diseases; Heart failure; Hereditary transthyretin amyloidosis; Hospitals; Long-term effects; Mapping; Medical research; Medicine, Experimental; Mortality; Mutation; Natriuretic peptides; Rare diseases; Software; Statistical analysis; Tafamidis; Transthyretin; Ventricle; Taiwan
• ISSN: 1750-1172; 1750-1172
• DOI: 10.1186/s13023-023-02824-0

Transthyretin cardiac cardiomyopathy (ATTR-CM) is a rare but life-threatening disease. Tafamidis is an effective treatment for patients with ATTR-CM, however its long-term effects on cardiac remodeling and cardiac amyloid deposition are unknown. This study aimed to used cardiac magnetic resonance (CMR) to investigate the effects of tafamidis on patients with hereditary A97S ATTR-CM. We retrospectively analyzed a prospective cohort of ATTR-CM patients, including 14 with hereditary A97S ATTR-CM and 17 healthy controls with baseline CMR data. All ATTR-CM patients received tafamidis treatment and received CMR with extracellular volume (ECV) at baseline and after 1 year of follow-up. Baseline N-terminal pro-B-type natriuretic peptide, left ventricular (LV) mass, LV ejection fraction, global radial, circumferential and longitudinal strain, T1 mapping and ECV were significantly worse in the patients with ATTR-CM compared with the healthy controls. After 1 year of tafamidis treatment, ECV decreased from 51.5 [+ or -] 8.9% to 49.0 [+ or -] 9.4% (P = 0.041), however there were no significant changes in LV mass, LV ejection fraction, global radial strain, global circumferential strain, global longitudinal strain and T1 mapping. After a one-year treatment period, tafamidis exhibited subtle but statistically significant reductions in ECV, potentially indicating a decrease in amyloid deposition among patients diagnosed with hereditary A97S ATTR-CM.