Abstract
Objective: To review the latest updated information regarding the pathophysiology, diagnosis, and disease-modifying therapy of cardiac amyloidosis. Methods: An integrative literature review of studies published between 2019 and 2024, including articles available in English and Portuguese. Results: A total of 5,880 articles related to the topic were identified in the databases, of which, among these, 32 were selected for data extraction and discussion of the obtained results. Final considerations: Many recent advances have been achieved in the diagnosis and disease-modifying therapy of cardiac amyloidosis. For example, bone scintigraphy has emerged as a crucial tool for the early and noninvasive diagnosis of this medical condition. Additionally, disease-modifying treatments such as Tafamidis and Bortezomib have significantly changed the perspectivefor patients with cardiac amyloidosis, which may provide a better quality of life, as well as a greater life expectancy for these individuals.
References
ALSOMALI D, et al. Treatment of Amyloid Light Chain Cardiac Amyloidosis: Systematic Review and Future Directions. Clin Adv Hematol Oncol. 2022; 20(10): 609–18.
ARGON A, et al. Cardiac Amyloidosis: Clinical Features, Pathogenesis, Diagnosis, and Treatment. Turk Patoloji Derg. 2024; 40(1): 1–9.
BAGGIANO A, et al. Noncontrast Magnetic Resonance for the Diagnosis of Cardiac Amyloidosis. JACC Cardiovasc Imaging. 2020; 13(1): 69–80.
BARRETT CD, et al. Outcomes in Patients With Cardiac Amyloidosis Undergoing Heart Transplantation. JACC Hear Fail. 2020; 8(6): 461–8.
CHAMLING B, 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 [Internet]. 2023; 112(3): 353–62.
CHATZANTONIS G, et al. Diagnostic value of cardiovascular magnetic resonance in comparison to endomyocardial biopsy in cardiac amyloidosis: a multi-centre study. Clin Res Cardiol [Internet]. 2021; 110(4): 555–68.
DASGUPTA NR, et al. Inotersen therapy of transthyretin amyloid cardiomyopathy. Amyloid. 2020; 27(1): 52–8.
DEUX JF, et al. Diagnostic value of extracellular volume quantification and myocardial perfusion analysis at CT in cardiac amyloidosis. Radiology. 2021; 300(2): 326–35.
FERNANDES F, et al. Posicionamento sobre Diagnóstico e Tratamento da Amiloidose Cardíaca – 2021. Arq Bras Cardiol. 2021; 117(3): 561–98.
GRIFFIN JM, ROSENBLUM H, et al. Pathophysiology and Therapeutic Approaches to Cardiac Amyloidosis. Circ Res. 2021; 128(10): 1554–75.
HASEGAWA K, et al. Abdominal Fat Pad Fine-Needle Aspiration for Diagnosis of Cardiac Amyloidosis in Patients with Non-Ischemic Cardiomyopathy Evidence from a Cohort of 77 Cardiac Biopsy Cases. Int Heart J. 2022; 63(1): 49–55.
ITZHAKI BZO e KORNOWSKI R. Cardiac care of patients with cardiac amyloidosis. Acta Haematol. 2020; 143(4): 343–51.
JUDGE DP, et al. Transthyretin Stabilization by AG10 in Symptomatic Transthyretin Amyloid Cardiomyopathy. J Am Coll Cardiol. 2019; 74(3): 285–95.
KESSLER L, et al. Quantitative 99mTc-DPD-SPECT/CT assessment of cardiac amyloidosis. J Nucl Cardiol. 2023; 30(1): 101–11.
KIM SH, et al. Diagnostic performance of PET for detection of cardiac amyloidosis: A systematic review and meta-analysis. J Cardiol [Internet]. 2020; 76(6): 618–25.
MARQUES N, et al. Specific therapy for transthyretin cardiac amyloidosis: A systematic literature review and evidence-based recommendations. J Am Heart Assoc. 2020; 9(19).
MESQUITA ET, et al. Amiloidose cardíaca e seu novo fenótipo clínico: Insuficiência cardíaca com fração de ejeção preservada. Arq Bras Cardiol. 2017; 109(1): 71–80.
MOREIRA RR, et al. Amiloidose cardíaca. Brazilian J Heal Rev. 2022; 5(5): 18451–9.
OCHI Y, et al. Integrated diagnostic approach to wild-type transthyretin cardiac amyloidosis with the use of high-sensitivity cardiac troponin T measurement and 99mTc-pyrophosphate scintigraphy. J Cardiol. 2020; 75(1): 12–9.
OUZZANI M, et al. Rayyan-a web and mobile app for systematic reviews. Syst Rev [Internet]. 2016; 5(1): 1–10.
POLO JM, et al. Echocardiographic markers of cardiac amyloidosis in patients with heart failure and left ventricular hypertrophy. Cardiol J. 2023; 30(2): 266–75.
RAPEZZI C, et al. Efficacy of Tafamidis in Patients With Hereditary and Wild-Type Transthyretin Amyloid Cardiomyopathy: Further Analyses From ATTR-ACT. JACC Hear Fail. 2021; 9(2): 115–23.
RAVAL M, et al. A review of recent advances in the diagnosis of cardiac amyloidosis, treatment of its cardiac complications, and disease-modifying therapies. F1000Research. 2023; 12:1–11.
RAZVI Y, et al. Cardiac transplantation in transthyretin amyloid cardiomyopathy: Outcomes from three decades of tertiary center experience. Front Cardiovasc Med. 2023; 9.
SHAH SJ, et al. Effect of Tafamidis on Cardiac Function in Patients with Transthyretin Amyloid Cardiomyopathy: A Post Hoc Analysis of the ATTR-ACT Randomized Clinical Trial. JAMA Cardiol. 2024; 9(1): 25–34.
SINGH BM, et al. A Systematic Review of Tafamidis in Patients With Transthyretin Amyloid Cardiomyopathy. Cureus. 2021; 9.
STELMACH-GOŁDYŚ A, et al. Physiology, Diagnosis and Treatment of Cardiac Light Chain Amyloidosis. J Clin Med. 2022; 11(4).
SUKAINA M, et al. Efficacy of tafamidis in transthyretin amyloid cardiomyopathy: a systematic review and meta-analysis. Ann Med Surg. 2024; 86(1): 433–8.
TSAI CH, et al. Cardiomyopathy Efficacy of Tafamidis in Patients with Ala97Ser Hereditary Transthyretin Cardiac Amyloidosis: A Six-Month Follow-Up Study. Acta Cardiol Sin. 2023; 39(4): 619–27.
VELAGA J, et al. Multimodality Imaging in the Diagnosis and Assessment of Cardiac Amyloidosis. Front Cardiovasc Med. 2022; 9.
VERGARO G, et al. N-terminal pro-B-type natriuretic peptide and high-sensitivity troponin T hold diagnostic value in cardiac amyloidosis. Eur J Heart Fail. 2023; 25(3): 335–46.
WANG J, et al. Tafamidis treatment in patients with transthyretin amyloid cardiomyopathy: a systematic review and meta-analysis. eClinicalMedicine [Internet]. 2023; 63(37): 102172.
WISNIOWSKI B e WECHALEKAR A. Confirming the diagnosis of amyloidosis. Acta Haematol. 2020; 143(4): 312–21.
WU Z, YU C. Diagnostic performance of CMR, SPECT, and PET imaging for the detection of cardiac amyloidosis: a meta-analysis. BMC Cardiovasc Disord [Internet]. 2021; 21(1): 1–12.
ZHANG Y e CHAOLU H. Papel Diagnóstico do NT-proBNP em Pacientes com Comprometimento por Amiloidose Cardíaca: Uma Metanálise. 2022; 119(85): 212–22.
ZHAO H, et al. Performance of bone tracer for diagnosis and differentiation of transthyretin cardiac amyloidosis: a systematic review and meta-analysis. Diagnostic Interv Radiol. 2021; 27(6): 802–10.
