Current issue
Accepted manuscript
About the Journal
Scientific Council
Editorial Board
Regulatory and archival policy
Code of publishing ethics
Publisher
Information about the processing of personal data in relation to cookies and newsletter subscription
Archive
For Authors
For Reviewers
Contact
Reviewers
Annals reviewers in 2025
Annals reviewers in 2024
Annals reviewers in 2023
Annals reviewers in 2022
Annals reviewers in 2021
Annals reviewers in 2020
Annals reviewers in 2019
Annals reviewers in 2018
Annals reviewers in 2017
Annals reviewers in 2016
Annals reviewers in 2015
Annals reviewers in 2014
Annals reviewers in 2013
Annals reviewers in 2012
Links
Sklep Wydawnictwa SUM
Biblioteka Główna SUM
Śląski Uniwersytet Medyczny w Katowicach
Privacy policy
Accessibility statement
Reviewers
Annals reviewers in 2025
Annals reviewers in 2024
Annals reviewers in 2023
Annals reviewers in 2022
Annals reviewers in 2021
Annals reviewers in 2020
Annals reviewers in 2019
Annals reviewers in 2018
Annals reviewers in 2017
Annals reviewers in 2016
Annals reviewers in 2015
Annals reviewers in 2014
Annals reviewers in 2013
Annals reviewers in 2012
Transthyretin cardiomyopathy – diagnosis and therapeutic options
1
Students Scientific Society at the Department of Cardiology and Electrotherapy,
Faculty of Medical Sciences in Zabrze, Medical University of Silesia, Katowice, Poland
2
Department of Cardiology and Electrotherapy, Faculty of Medical Sciences in Zabrze, Medical University of Silesia, Katowice, Poland, Silesian Center for Heart Diseases
These authors had equal contribution to this work
Corresponding author
Alicja Pawlus
Studenckie Koło Naukowe, Katedra i Klinika Kardiologii i Elektroterapii, Śląskie Centrum Chorób Serca, ul. M. Curie-Skłodowskiej 9, 41-800 Zabrze, tel. +48 32 271 34 14
Studenckie Koło Naukowe, Katedra i Klinika Kardiologii i Elektroterapii, Śląskie Centrum Chorób Serca, ul. M. Curie-Skłodowskiej 9, 41-800 Zabrze, tel. +48 32 271 34 14
KEYWORDS
TOPICS
ABSTRACT
Transthyretin amyloid cardiomyopathy (ATTR-CM) is a rare but increasingly recognized cause of heart failure. ATTR-CM results from the deposition of misfolded transthyretin (TTR) protein fibrils in the extracellular matrix. Two main forms of ATTR are distinguished: hereditary (hATTR) and wild-type (wtATTR). The diagnostic gold standard has shifted from invasive biopsy toward a non-invasive algorithm, which includes laboratory tests, echocardiography, cardiac magnetic resonance, and scintigraphy. Contemporary disease-modifying therapeutic strategies – transthyretis stabilizers (tafamidis, acoramidis) and gene-silencing drugs (vutrisiran, patisiran) significantly improve the prognosis and functional capacity of patients with ATTR-CM.
REFERENCES (29)
1.
Garcia-Pavia P, Rapezzi C, Adler Y, Arad M, Basso C, Brucato A, et al. Diagnosis and treatment of cardiac amyloidosis: a position statement of the ESC Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2021;42(16):1554–1568. doi: 10.1093/eurheartj/ehab072.
2.
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):2872–2891. doi: 10.1016/j.jacc.2019.04.003.
3.
Gillmore JD, Maurer MS, Falk RH, Merlini G, Damy T, Dispenzieri A, et al. Nonbiopsy diagnosis of cardiac transthyretin amyloidosis. Circulation. 2016;133(24):2404–2412. doi: 10.1161/CIRCULATIONAHA.116.021612.
4.
Fontana M, Chung R, Hawkins PN, Moon JC. Cardiovascular magnetic resonance for amyloidosis. Heart Fail Rev. 2015;20(2):133–144. doi: 10.1007/s10741-014-9470-7.
5.
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):1007–1016. doi: 10.1056/NEJMoa1805689.
6.
Maurer MS, Kale P, Fontana M, Berk JL, Grogan M, Gustafsson F, et al. Patisiran Treatment in Patients with Transthyretin Cardiac Amyloidosis. N Engl J Med. 2023;389(17):1553–1565. doi: 10.1056/NEJMoa2300757.
7.
Jering KS, Fontana M, Skali H, Bulwer BE, Prasad N, Roshanali F, et al. Effects of Vutrisiran on Cardiac Function and Outcomes in Patients With Transthyretin Amyloidosis With Cardiomyopathy. J Am Coll Cardiol. 2025;86(6):444–455. doi: 10.1016/j.jacc.2025.06.022.
8.
Muchtar E, Dispenzieri A, Wisniowski B, Palladini G, Milani P, Merlini G, et al. Graded Cardiac Response Criteria for Patients With Systemic Light Chain Amyloidosis. J Clin Oncol. 2023;41(7):1393–1403. doi: 10.1200/JCO.22.00643.
9.
Wechalekar AD, Fontana M, Quarta CC, Liedtke M. AL Amyloidosis for Cardiologists: Awareness, Diagnosis, and Future Prospects: a JACC: CardioOncology State-of-the-Art Review. JACC CardioOncol. 2022;4(4):427–441. doi: 10.1016/j.jaccao.2022.08.009.
10.
Witteles RM, Liedtke M. AL Amyloidosis for the Cardiologist and Oncologist: Epidemiology, Diagnosis, and Management. JACC CardioOncol. 2019;1(1):117–130. doi: 10.1016/j.jaccao.2019.08.002.
11.
Grzybowski J, Podolec P, Holcman K, Gawor-Prokopczyk M, Jankowska E, Kostkiewicz M, et al. Diagnosis and treatment of transthyretin amyloidosis cardiomyopathy: A position statement of the Polish Cardiac Society. Kardiol Pol. 2023;81(11):1167–1185. doi: 10.33963/v.kp.97648.
12.
Pabis P, Warwas S, Majer D, Mazurek M, Jędrzejczyk-Patej E, Średniawa B. Zaburzenia rytmu serca u chorych z amyloidozą sercową. WDR. 2023;1(66):15–20. doi: 10.5604/01.3001.0053.7279.
13.
Kittleson MM, Ambardekar AV, Cheng RK, Griffin JM, Maurer MS, Nativi-Nicolau J, et al. Transthyretin Cardiac Amyloidosis Evaluation and Management: 2025 ACC Concise Clinical Guidance. J Am Coll Cardiol. 2026;87(5):549–565. doi: 10.1016/j.jacc.2025.09.004.
14.
Wardak R, Snipelisky D. The Role of Artificial Intelligence in Cardiac Amyloidosis: A Focus on Diagnosis and Clinical Application. J Cardiovasc Dev Dis. 2025;12(6):221. doi: 10.3390/jcdd12060221.
15.
Gawor-Prokopczyk M, Grzybowski J, Lipowska M, Truszkowska G, Ponińska J, Rajtar-Salwa R, et al. Multicenter study of patients with transthyretin cardiac amyloidosis in Poland: Clinical characteristics, genotyping, electrocardiographic features, outcome predictors, and tafamidis treatment outcomes. Kardiol Pol. 2026;84(1):37–46. doi: 10.33963/v.phj.109824.
16.
Heidenreich PA, Bozkurt B, Aguilar D, Allen LA, Byun JJ, Colvin MM, et al. 2022 AHA/ACC/HFSA Guideline for the Management of Heart Failure: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines. J Am Coll Cardiol. 2022;79(17):e263–e421. doi: 10.1016/j.jacc.2021.12.012.
17.
Smiley DA, Einstein AJ, O’Gorman KJ, Santana D, Teruya S, Chan N, et al. Early Detection of Transthyretin Cardiac Amyloidosis Using 124I-Evuzamitide Positron Emission Tomography/Computed Tomography. JACC Cardiovasc Imaging. 2025;18(7):799–811. doi: 10.1016/j.jcmg.2025.01.018.
18.
Holcman K, Kostkiewicz M, Podolec P, Rubiś P. Amyloidoza serca – właściwe rozpoznanie i nowe terapie na horyzoncie. Folia Cardiol. 2019;14(6):616–624. doi: 10.5603/FC.2019.0115.
19.
Arbelo E, Protonotarios A, Gimeno JR, Arbustini E, Barriales-Villa R, Basso C, et al. 2023 ESC Guidelines for the management of cardiomyopathies. Eur Heart J. 2023;44(37):3503–3626. doi: 10.1093/eurheartj/ehad194.
20.
McDonagh TA, Metra M, Adamo M, Gardner RS, Baumbach A, Böhm M, et al. 2021 ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure. Eur Heart J. 2021;42(36):3599–3726. doi: 10.1093/eurheartj/ehab368.
21.
Gillmore JD, Judge DP, Cappelli F, Fontana M, Garcia-Pavia P, Gibbs S, et al. Efficacy and Safety of Acoramidis in Transthyretin Amyloid Cardiomyopathy. N Engl J Med. 2024;390(2):132–142. doi: 10.1056/NEJMoa2305434.
22.
Fontana M, Berk JL, Gillmore JD, Witteles RM, Grogan M, Drachman B, et al. Vutrisiran in Patients with Transthyretin Amyloidosis with Cardiomyopathy. N Engl J Med. 2025;392(1):33–44. doi: 10.1056/NEJMoa2409134.
23.
Adams D, Suhr OB, Dyck PJ, Litchy WJ, Leahy RG, Chen J, et al. Trial design and rationale for APOLLO, a Phase 3, placebo-controlled study of patisiran in patients with hereditary ATTR amyloidosis with polyneuropathy. BMC Neurol. 2017;17(1):181. doi: 10.1186/s12883-017-0948-5.
24.
Gillmore JD, Gane E, Taubel J, Kao J, Fontana M, Maitland ML, et al. CRISPR-Cas9 In Vivo Gene Editing for Transthyretin Amyloidosis. N Engl J Med. 2021;385(6):493–502. doi: 10.1056/NEJMoa2107454.
25.
Richards DB, Cookson LM, Berges AC, Barton SV, Lane T, Ritter JM, et al. Therapeutic Clearance of Amyloid by Antibodies to Serum Amyloid P Component. N Engl J Med. 2015;373(12):1106–1114. doi: 10.1056/NEJMoa1504942.
26.
Zeppenfeld K, Tfelt-Hansen J, de Riva M, Winkel BG, Behr ER, Blom NA, et al. 2022 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death. Eur Heart J. 2022;43(40):3997–4126. doi: 10.1093/eurheartj/ehac262.
27.
Grogan M, Scott CG, Kyle RA, Zeldenrust SR, Gertz MA, Lin G, et al. Natural History of Wild-Type Transthyretin Cardiac Amyloidosis and Risk Stratification Using a Novel Staging System. J Am Coll Cardiol. 2016;68(10):1014–1020. doi: 10.1016/j.jacc.2016.06.033.
28.
Cipriani A, De Michieli L, Porcari A, Licchelli L, Sinigiani G, Tini G, et al. Low QRS Voltages in Cardiac Amyloidosis: Clinical Correlates and Prognostic Value. JACC CardioOncol. 2022;4(4):458–470. doi: 10.1016/j.jaccao.2022.08.007.
29.
Buxbaum JN, Dispenzieri A, Eisenberg DS, Fändrich M, Merlini G, Saraiva MJM, et al. Amyloid nomenclature 2022: update, novel proteins, and recommendations by the International Society of Amyloidosis (ISA) Nomenclature Committee. Amyloid. 2022;29(4):213–219. doi: 10.1080/13506129.2022.2147636.
| eISSN: | 1734-025X |
The Medical University of Silesia in Katowice, as the Operator of the annales.sum.edu.pl website, processes personal data collected when visiting the website. The function of obtaining information about Users and their behavior is carried out by voluntarily entered information in forms, saving cookies in end devices, as well as by collecting web server logs, which are in the possession of the website Operator. Data, including cookies, are used to provide services in accordance with the Privacy policy.
You can consent to the processing of data for these purposes, refuse consent or access more detailed information.
You can consent to the processing of data for these purposes, refuse consent or access more detailed information.
