Vnitr Lek 2025, 71(5):289-294

Transthyretin cardiac amyloidosis - overview of the issue in 2025

Miloš Kubánek
Klinika kardiologie, Institut klinické a experimentální medicíny, Praha
European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart, ERN GUARD-Heart, IKEM, Prague

Transthyretin cardiomyopathy is associated with a significant mortality and morbidity, which are caused by congestive heart failure, atrial fibrillation and atrioventricular block. In the Czech Republic, we can diagnose mainly wild-type form of the disease. Rarely, a hereditary form may be detected associated with a variable occurrence of sensorimotor polyneuropathy with a significant vegetative component. This review should provide an update of current knowledge regarding aetiology, pathophysiology, clinical presentation, diagnostics, epidemiology and treatment of transthyretin cardiomyopathy.

Keywords: transthyretine cardiomyopathy, diagnosis, treatment.

Accepted: August 25, 2025; Published: September 18, 2025  Show citation

ACS AIP APA ASA Harvard Chicago Chicago Notes IEEE ISO690 MLA NLM Turabian Vancouver
Kubánek M. Transthyretin cardiac amyloidosis - overview of the issue in 2025. Vnitr Lek. 2025;71(5):289-294.
Download citation

References

  1. Perugini E, Guidalotti PL, Salvi F, et al. Noninvasive etiologic diagnosis of cardiac amyloidosis using 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid scintigraphy. J Am Coll Cardiol. 2005;46(6):1076-84. Go to original source... Go to PubMed...
  2. Maurer MS, Schwartz JH, Gundapaneni B, et al. Tafamidis Treatment for Patients with Transthyretin Amyloid Cardiomyopathy. N Engl J Med. 2018; 379(11):1007-1016. Go to original source... Go to PubMed...
  3. Gertz MA, Benson MD, Dyck PJ, et al. Diagnosis, Prognosis, and Therapy of Transthyretin Amyloidosis. J Am Coll Cardiol. 2015;66:2451-2466. Go to original source... Go to PubMed...
  4. Garcia-Pavia P, Rapezzi C, Adler Y, 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. Go to original source... Go to PubMed...
  5. Falk RH. Diagnosis and management of the cardiac amyloidoses. Circulation 2005; 112:2047-60. Go to original source... Go to PubMed...
  6. Pagura L, Porcari A, Cameli M, et al. ECG/echo indexes in the diagnostic approach to amyloid cardiomyopathy: A head-to-head comparison from the AC-TIVE study. Eur J Intern Med. 2023:S0953-6205(23)00346-1.
  7. Gillmore JD, Maurer MS, Falk RH, et al. Nonbiopsy Diagnosis of Cardiac Transthyretin Amyloidosis. Circulation. 2016;133(24):2404-12. Go to original source... Go to PubMed...
  8. Rauf MU, Hawkins PN, Cappelli F, et al. Tc-99 m labelled bone scintigraphy in suspected cardiac amyloidosis. Eur Heart J. 2023;44(24):2187-2198. Go to original source... Go to PubMed...
  9. Martinez-Naharro A, Treibel TA, Abdel-Gadir A, et al. Magnetic Resonance in Transthyretin Cardiac Amyloidosis. J Am Coll Cardiol. 2017;70(4):466-477. Go to original source... Go to PubMed...
  10. González-López E, Gallego-Delgado M, Guzzo-Merello G, et al. Wild-type transthyretin amyloidosis as a cause of heart failure with preserved ejection fraction. Eur Heart J 2015;36:2585-94. Go to original source... Go to PubMed...
  11. Castaño A, Narotsky DL, Hamid N, et al. Unveiling transthyretin cardiac amyloidosis and its predictors among elderly patients with severe aortic stenosis undergoing transcatheter aortic valve replacement. Eur Heart J 2017;38:2879-87. Go to original source... Go to PubMed...
  12. Remior-Pérez P, Gómez-Molina M, García-Rodríguez D, et al. Prevalence of Cardiac Amyloidosis Among Elderly Patients With Recent-Onset Atrial Fibrillation: The PREVAL-ATTR Study. Can J Cardiol. 2025;41(2):167-177. Go to original source... Go to PubMed...
  13. Cannie D, Patel K, Protonotarios A, et al. Prevalence of transthyretin cardiac amyloidosis in patients with high-degree AV block. Open Heart 2024;11:e002606. Go to original source... Go to PubMed...
  14. Mohamed-Salem L, Santos-Mateo JJ, Sanchez-Serna J, et al. Prevalence of wild type ATTR assessed as myocardial uptake in bone scan in the elderly population. Int J Cardiol. 2018;270:192-196. Go to original source... Go to PubMed...
  15. Gillmore JD, Judge DP, Cappelli F, et al. Efficacy and safety of acoramidis in transthyretin amyloid cardiomyopathy. N Engl J Med 2024;390: 132-42. Go to original source... Go to PubMed...
  16. Judge DP, Alexander KM, Cappelli F, et al. Efficacy of Acoramidis on All-Cause Mortality and Cardiovascular Hospitalization in Transthyretin Amyloid Cardiomyopathy. J Am Coll Cardiol. 2025;85(10):1003-1014. Go to original source... Go to PubMed...
  17. Judge DP, Gillmore JD, Alexander KM, et al. Long-Term Efficacy and Safety of Acoramidis in ATTR-CM: Initial Report From the Open-Label Extension of the ATTRibute-CM Trial. Circulation. 2025;151(9):601-611. Go to original source... Go to PubMed...
  18. Maurer MS, Judge DP, Gillmore JD, et al. Early Increase in Serum Transthyretin by Acoramidis Independently Predicts Improved Survival in TTR Amyloid Cardiomyopathy. J Am Coll Cardiol. 2025;85(20):1911-1923. Go to original source... Go to PubMed...
  19. Fontana M, Berk JL, Gillmore JD, et al. HELIOS-B Trial Investigators. Vutrisiran in Patients with Transthyretin Amyloidosis with Cardiomyopathy. N Engl J Med. 2025; 392(1):33-44. Go to original source... Go to PubMed...
  20. Falk RH, Cuddy SAM, Itzhaki Ben Zadok O. Silencers versus stabilizers in amyloid cardiomyopathy. Are we asking the wrong questions? Eur J Heart Fail. 2025; 27(4):623-627. Go to original source... Go to PubMed...




Vnitřní lékařství

Madam, Sir,
please be aware that the website on which you intend to enter, not the general public because it contains technical information about medicines, including advertisements relating to medicinal products. This information and communication professionals are solely under §2 of the Act n.40/1995 Coll. Is active persons authorized to prescribe or supply (hereinafter expert).
Take note that if you are not an expert, you run the risk of danger to their health or the health of other persons, if you the obtained information improperly understood or interpreted, and especially advertising which may be part of this site, or whether you used it for self-diagnosis or medical treatment, whether in relation to each other in person or in relation to others.

I declare:

  1. that I have met the above instruction
  2. I'm an expert within the meaning of the Act n.40/1995 Coll. the regulation of advertising, as amended, and I am aware of the risks that would be a person other than the expert input to these sites exhibited


No

Yes

If your statement is not true, please be aware
that brings the risk of danger to their health or the health of others.