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

Orphanet Journal of Rare Diseases - Tập 18 - Trang 1-9 - 2023
Cheng-Hsuan Tsai1,2, Chi-Chao Chao3, Sung-Tsang Hsieh3, An-Li Yu4,5, Yuan-Kun (Aden) Wu4,5, Mei-Fang Cheng6,7, Ming-Jen Lee3, Chia-Hung Chou8, Chia-Tung Shun9,10, Hsueh-Wen Hsueh3, Jimmy Jyh-Ming Juang4,5, Ping-Huei Tseng11, Mao-Yuan Su12,13, Yen-Hung Lin4,5
1National Taiwan University, College of Medicine, Graduate Institute of Clinical Medicine, Taipei, Taiwan
2Department of Internal Medicine, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan
3Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan
4Division of Cardiology, National Taiwan University Hospital, Taipei, Taiwan
55Cardiovascular Center, National Taiwan University Hospital, Taipei, Taiwan
6Department of Nuclear Medicine, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan
7Institute of Environmental and Occupational Health Sciences, National Taiwan University, Taipei, Taiwan
8Department of Obstetrics and Gynecology, Department of Internal Medicine, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan
9Department of Forensic Medicine and Pathology, National Taiwan University Hospital, Taipei, Taiwan
10Department of Pathology, Good Liver Clinic, Taipei, Taiwan
11Division of Gastroenterology, Department of Internal Medicine, National Taiwan University Hospital, Taipei, Taiwan
12Department of Medical Imaging, National Taiwan University Hospital, Taipei, Taiwan
13Department of Medical Imaging and Radiological Technology, Yuanpei University of Medical Technology, Hsinchu, Taiwan

Tóm tắt

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 ± 8.9% to 49.0 ± 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.

Tài liệu tham khảo

Ruberg FL, Grogan M, Hanna M, Kelly JW, Maurer MS. Transthyretin amyloid cardiomyopathy: JACC state-of-the-art review. J Am Coll Cardiol. 2019;73(22):2872–91.

Kittleson MM, Maurer MS, Ambardekar AV, Bullock-Palmer RP, Chang PP, Eisen HJ, et al. Cardiac amyloidosis: evolving diagnosis and management: a Scientific Statement from the American Heart Association. Circulation. 2020;142(1):e7–e22.

Ruberg FL, Berk JL. Transthyretin (TTR) cardiac amyloidosis. Circulation. 2012;126(10):1286–300.

Bulawa CE, Connelly S, Devit M, Wang L, Weigel C, Fleming JA, et al. Tafamidis, a potent and selective transthyretin kinetic stabilizer that inhibits the amyloid cascade. Proc Natl Acad Sci U S A. 2012;109(24):9629–34.

Maurer MS, Schwartz JH, Gundapaneni B, Elliott PM, Merlini G, Waddington-Cruz M, et al. Tafamidis Treatment for patients with transthyretin amyloid cardiomyopathy. N Engl J Med. 2018;379(11):1007–16.

Garcia-Pavia P, Bengel F, Brito D, Damy T, Duca F, Dorbala S, et al. Expert consensus on the monitoring of transthyretin amyloid cardiomyopathy. Eur J Heart Fail. 2021;23(6):895–905.

Fontana M, Martinez-Naharro A, Chacko L, Rowczenio D, Gilbertson JA, Whelan CJ, et al. Reduction in CMR Derived Extracellular volume with Patisiran indicates cardiac amyloid regression. JACC Cardiovasc Imaging. 2021;14(1):189–99.

Pilebro B, Suhr OB, Naslund U, Westermark P, Lindqvist P, Sundstrom T. (99m)Tc-DPD uptake reflects amyloid fibril composition in hereditary transthyretin amyloidosis. Ups J Med Sci. 2016;121(1):17–24.

Lai HJ, Huang KC, Liang YC, Chien KL, Lee MJ, Hsieh ST, et al. Cardiac manifestations and prognostic implications of hereditary transthyretin amyloidosis associated with transthyretin Ala97Ser. J Formos Med Assoc. 2020;119(3):693–700.

Haaf P, Garg P, Messroghli DR, Broadbent DA, Greenwood JP, Plein S. Cardiac T1 mapping and extracellular volume (ECV) in clinical practice: a comprehensive review. J Cardiovasc Magn Reson. 2016;18(1):89.

Fontana M, Banypersad SM, Treibel TA, Maestrini V, Sado DM, White SK, et al. Native T1 mapping in transthyretin amyloidosis. JACC Cardiovasc Imaging. 2014;7(2):157–65.

Fontana M, Pica S, Reant P, Abdel-Gadir A, Treibel TA, Banypersad SM, et al. Prognostic value of late Gadolinium Enhancement Cardiovascular magnetic resonance in Cardiac Amyloidosis. Circulation. 2015;132(16):1570–9.

Kitaoka H, Izumi C, Izumiya Y, Inomata T, Ueda M, Kubo T, et al. JCS 2020 Guideline on diagnosis and treatment of Cardiac Amyloidosis. Circ J. 2020;84(9):1610–71.

Maurer MS, Elliott P, Comenzo R, Semigran M, Rapezzi C. Addressing common questions encountered in the diagnosis and management of Cardiac Amyloidosis. Circulation. 2017;135(14):1357–77.

Yang NC, Lee MJ, Chao CC, Chuang YT, Lin WM, Chang MF, et al. Clinical presentations and skin denervation in amyloid neuropathy due to transthyretin Ala97Ser. Neurology. 2010;75(6):532–8.

Lang RM, Badano LP, Mor-Avi V, Afilalo J, Armstrong A, Ernande L, et al. Recommendations for cardiac chamber quantification by echocardiography in adults: an update from the American Society of Echocardiography and the European Association of Cardiovascular Imaging. J Am Soc Echocardiogr. 2015;28(1):1–39e14.

Claus P, Omar AMS, Pedrizzetti G, Sengupta PP, Nagel E. Tissue Tracking Technology for assessing Cardiac mechanics: principles, normal values, and clinical applications. JACC Cardiovasc imaging. 2015;8(12):1444–60.

Su MY, Huang YS, Niisato E, Chow K, Juang JJ, Wu CK, et al. Is a timely assessment of the hematocrit necessary for cardiovascular magnetic resonance-derived extracellular volume measurements? J Cardiovasc Magn resonance: official J Soc Cardiovasc Magn Reson. 2020;22(1):77.

Wu YA, Tsai CH, Su MY, Chao CC, Cheng MF, Shun CT, et al. Reverse cardiac remodelling and dysfunction in A97S transthyretin cardiac amyloidosis after tafamidis treatment. ESC Heart Fail. 2022;9(6):4335–9.

Ochi Y, Kubo T, Baba Y, Sugiura K, Miyagawa K, Noguchi T, et al. Early experience of Tafamidis treatment in japanese patients with Wild-Type Transthyretin Cardiac Amyloidosis from the Kochi Amyloidosis Cohort. Circ J. 2022;86(7):1121–8.

Rettl R, Duca F, Binder C, Dachs TM, Cherouny B, Camuz Ligios L et al. Impact of tafamidis on myocardial strain in transthyretin amyloid cardiomyopathy. Amyloid. 2022:1–11.

Giblin GT, Cuddy SAM, Gonzalez-Lopez E, Sewell A, Murphy A, Dorbala S, et al. Effect of tafamidis on global longitudinal strain and myocardial work in transthyretin cardiac amyloidosis. Eur Heart J Cardiovasc Imaging. 2022;23(8):1029–39.

Rettl R, Mann C, Duca F, Dachs TM, Binder C, Ligios LC, et al. Tafamidis treatment delays structural and functional changes of the left ventricle in patients with transthyretin amyloid cardiomyopathy. Eur Heart J Cardiovasc Imaging. 2022;23(6):767–80.

Wu YA, Tsai CH, Su MY, Chao CC, Cheng MF, Shun CT et al. Reverse cardiac remodelling and dysfunction in A97S transthyretin cardiac amyloidosis after tafamidis treatment. ESC Heart Fail. 2022.

Yagi S, Yamazaki H, Kusunose K, Osaki Y, Ise T, Kadota M, et al. Regression of left ventricular hypertrophy after tafamidis therapy in a patient with transthyretin amyloidosis variant. J Med Invest. 2022;69(34):320–2.

Shintani Y, Okada A, Morita Y, Hamatani Y, Amano M, Takahama H, et al. Monitoring treatment response to tafamidis by serial native T1 and extracellular volume in transthyretin amyloid cardiomyopathy. ESC Heart Fail. 2019;6(1):232–6.

Chamling B, Bietenbeck M, Korthals D, Drakos S, Vehof V, Stalling P et al. Therapeutic value of tafamidis in patients with wild-type transthyretin amyloidosis (ATTRwt) with cardiomyopathy based on cardiovascular magnetic resonance (CMR) imaging. Clin Res Cardiol. 2022.

Lin YH, Hsueh HW, Su MY, Cheng MF, Chiang MC, Juang JJ, et al. Cardiomyopathy correlates to nerve damage in p.A117S late-onset transthyretin amyloid polyneuropathy. Ann Clin Transl Neurol. 2022;9(9):1359–69.

Griffin JM, Rosenthal JL, Grodin JL, Maurer MS, Grogan M, Cheng RK. ATTR Amyloidosis: current and emerging management strategies: JACC: CardioOncology State-of-the-art review. JACC CardioOncol. 2021;3(4):488–505.

Palmiero G, Vetrano E, Rubino M, Monda E, Dongiglio F, Lioncino M, et al. The role of New Imaging Technologies in the diagnosis of Cardiac Amyloidosis. Heart Fail Clin. 2022;18(1):61–72.

Dorbala S, Ando Y, Bokhari S, Dispenzieri A, Falk RH, Ferrari VA, ASNC/AHA/ASE/EANM/HFSA, et al. /ISA/SCMR/SNMMI Expert Consensus Recommendations for Multimodality Imaging in Cardiac Amyloidosis: part 1 of 2-Evidence base and standardized methods of imaging. Circ Cardiovasc Imaging. 2021;14(7):e000029.

Martinez-Naharro A, Kotecha T, Norrington K, Boldrini M, Rezk T, Quarta C, et al. Native T1 and extracellular volume in Transthyretin Amyloidosis. JACC Cardiovasc Imaging. 2019;12(5):810–9.

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Orphanet Journal of Rare Diseases

Tập 18

1-9

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