Primary Data on ATTR-Amyloidosis Prevalence Among Elderly Patients With Left Ventricular Hypertrophy in Russia

Aim. To estimate the prevalence of amyloid cardiomyopathy (CM) caused by transthyretin amyloidosis (ATTR) and immunoglobulin light chain (AL) amyloidosis among patients aged >65 years with interventricular septal (IVS) hypertrophy of ≥14 mm.

Material and methods. From January through August 2023, 60 patients (mean age 7.2±7.3 years, 34 (56.67%) men) were enrolled. Patients meeting the inclusion criteria underwent an echocardiographic study with determining the myocardial longitudinal strain, myocardial scintigraphy with 99mTc-pyrfotech, myocardial single-photon emission computed tomography, measurement of N-terminal fragment of brain natriuretic peptide and troponin I, and the immunochemical study of serum and urine proteins with measurement of free light chains. In the presence of grades 2 and 3 radiopharmaceutical uptake according to scintigraphy, a molecular genetic study was performed for differential diagnosis of wild-type transthyretin amyloidosis (wtATTR) and hereditary/variant (hATTR) ATTR-CM.

Results. According to data of myocardial scintigraphy with 99mTc-pyrfotech, grade 3 uptake in the absence of monoclonal secretion was detected in 5 (8.3%) cases and grade 2 radiotracer uptake in the absence of monoclonal secretion was detected in 6 (10%) patients. Myeloma complicated by AL amyloidosis and primary AL amyloidosis were found in 5 (8.3%) patients.

Conclusion. Among patients aged ≥65 years with IVS hypertrophy ≥14 mm, amyloid CM was detected in 20% of cases (12 patients), including 5 cases (8.3%) of AL amyloidosis and 7 cases (11.7%) of ATTR amyloidosis.

1. Lachmann H, Hawkins P. Systemic amyloidosis. Current Opinion in Pharmacology. 2006;6(2):214–20. DOI: 10.1016/j.coph.2005.10.005

2. Bokhari S, Castaño A, Pozniakoff T, Deslisle S, Latif F, Maurer MS. (99m) Tc-Pyrophosphate Scintigraphy for Differentiating Light-Chain Cardiac Amyloidosis From the Transthyretin-Related Familial and Senile Cardiac Amyloidoses. Circulation: Cardiovascular Imaging. 2013;6(2):195–201. DOI: 10.1161/CIRCIMAGING.112.000132

3. Porcari A, Bussani R, Merlo M, Varrà GG, Pagura L, Rozze D et al. Incidence and Characterization of Concealed Cardiac Amyloidosis Among Unselected Elderly Patients Undergoing Post-mortem Examination. Frontiers in Cardiovascular Medicine. 2021;8:749523. DOI: 10.3389/fcvm.2021.749523

4. 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):7–22. DOI: 10.1161/CIR.0000000000000792

5. Maurer MS, Schwartz JH, Gundapaneni B, Elliott PM, Merlini G, Waddington-Cruz M et al. Tafamidis Treatment for Patients with Transthyretin Amyloid Cardiomyopathy. New England Journal of Medicine. 2018;379(11):1007–16. DOI: 10.1056/NEJMoa1805689

6. Antonopoulos AS, Panagiotopoulos I, Kouroutzoglou A, Koutsis G, Toskas P, Lazaros G et al. Prevalence and clinical outcomes of transthyretin amyloidosis: a systematic review and meta-analysis. European Journal of Heart Failure. 2022;24(9):1677–96. DOI: 10.1002/ejhf.2589

7. Mitchell C, Rahko PS, Blauwet LA, Canaday B, Finstuen JA, Foster MC et al. Guidelines for Performing a Comprehensive Transthoracic Echocardiographic Examination in Adults: Recommendations from the American Society of Echocardiography. Journal of the American Society of Echocardiography. 2019;32(1):1–64. DOI: 10.1016/j.echo.2018.06.004

8. Dorbala S, Ando Y, Bokhari S, Dispenzieri A, Falk RH, Ferrari VA et al. ASNC/AHA/ASE/EANM/HFSA/ISA/SCMR/SNMMI Expert Consensus Recommendations for Multimodality Imaging in Cardiac Amyloidosis: Part 1 of 2 – Evidence Base and Standardized Methods of Imaging. Circulation: Cardiovascular Imaging. 2021;14(7):e000029. DOI: 10.1161/HCI.0000000000000029

9. Schockling EJ, Farrell MB, Embry-Dierson M, Warren J, Jerome S. Cardiac Amyloidosis Imaging, Part 2: Quantification and Technical Considerations. Journal of Nuclear Medicine Technology. 2023;51(2):90–8. DOI: 10.2967/jnmt.123.265416

10. Reznik E.V., Stepanova E.A., Nguyen T.L., Sirenova I.O., Salikov A.V., Nikitin I.G. Retrospective analysis of cardiovascular involvement in patients with systemic amyloidosis. Cardiovascular Therapy and Prevention. 2021;20(1):35–46. DOI: 10.15829/1728-8800-2021-2496

11. Tanskanen M, Peuralinna T, Polvikoski T, Notkola I, Sulkava R, Hardy J et al. Senile systemic amyloidosis affects 25% of the very aged and associates with genetic variation in alpha2-macroglobulin and tau: a population-based autopsy study. Annals of Medicine. 2008;40(3):232–9. DOI: 10.1080/07853890701842988

12. González-López E, Gallego-Delgado M, Guzzo-Merello G, de Haro-del Moral FJ, Cobo-Marcos M, Robles C et al. Wild-type transthyretin amyloidosis as a cause of heart failure with preserved ejection fraction. European Heart Journal. 2015;36(38):2585–94. DOI: 10.1093/eurheartj/ehv338

13. AbouEzzeddine OF, Davies DR, Scott CG, Fayyaz AU, Askew JW, McKie PM et al. Prevalence of Transthyretin Amyloid Cardiomyopathy in Heart Failure With Preserved Ejection Fraction. JAMA Cardiology. 2021;6(11):1267–74. DOI: 10.1001/jamacardio.2021.3070

14. Lindmark K, Pilebro B, Sundström T, Lindqvist P. Prevalence of wild type transtyrethin cardiac amyloidosis in a heart failure clinic. ESC Heart Failure. 2021;8(1):745–9. DOI: 10.1002/ehf2.13110

15. Tereshchenko S.N., Zhirov I.V., Moiseeva O.M., Adasheva T.V., Ansheles A.A., Barbarash O.L. et al. Practical guidelines for the diagnosis and treatment of transthyretin amyloid cardiomyopathy (ATTR-CM or transthyretin cardiac amyloidosis). Therapeutic Archive. 2022;94(4):584–95. DOI: 10.26442/00403660.2022.04.201465