Amyloid Cardiomyopathy: Review of A Fatal Case Report

Close attention to the problem of amyloid cardiomyopathy in recent years has been caused by a significant increase in the disease detection simultaneously with increased sensitivity and specificity of imaging methods used in cardiological practice, along with the emergence of new promising diagnostic methods and specific therapy. The choice of treatment tactics for systemic amyloidosis directly depends on the results of typing of amyloidogenic proteins, which became possible due to the development of proteomics based on mass spectrometry. To date, it has been proven that amyloid cardiomyopathy is an important and often undiagnosed cause of chronic heart failure and cardiac arrhythmias, especially in the elderly. There are more than 15 types of precursor proteins capable of causing systemic amyloidosis, but only 2 of them accumulate in the interstitium of the heart: light chains of clonal immunoglobulin (AL) and tetrameric protein transthyretin (TTR). The significant prevalence of wild-type genetic transthyretin amyloidosis (ATTRwt), formerly referred to as senile systemic amyloidosis, is indicated by the following figures: in 13 % of patients hospitalized for decompensation of chronic heart failure with preserved left ventricular ejection fraction, transthyretin amyloid cardiomyopathy was a diagnostic finding, among patients over 80 years of age, this pathology is detected post mortem in 20-25 % of pathoanatomic reports, and in 37 % of cases in the long-lived group (patients over 97 years of age). Even with early diagnosis of ATTR-amyloidosis, the life expectancy from the moment the first symptoms appear is 10-12 years, as the disease progresses irreversibly, leading to disability due to severe heart damage and polyneuropathy. The late diagnosis of systemic amyloidosis is due to the low awareness of primary care physicians, the presence of comorbidity in elderly patients, the absence of specific symptoms of the disease and available diagnostic screening methods, and determines an unfavorable prognosis of this disease, especially with the formation of amyloid cardiomyopathy. The relevance of this topic is due to the need to improve diagnostic algorithms and reduce the time for primary diagnosis of amyloid cardiomyopathy in order to improve the prognosis of the disease.
We have described a clinical case of an elderly patient with a torpid course of progressive decompensation of congestive heart failure, which ended fatally on the 3rd day of hospitalization. Echocardiographic criteria brought us closer to the diagnosis of amyloid cardiomyopathy, but pathoanatomic studies have confirmed the diagnosis of systemic amyloidosis with predominant heart damage.

1. Writing Committee; Kittleson M.M., Ruberg F.L., Ambardekar A.V., et al. 2023 ACC Expert Consensus Decision Pathway on Comprehensive Multidisciplinary Care for the Patient With Cardiac Amyloidosis: A Report of the American College of Cardiology Solution Set Oversight Committee. J Am Coll Cardiol. 2023 Mar 21; 81(11):1076-1126. doi: 10.1016/j.jacc.2022.11.022.

2. Tereshchenko S.N., Nasonova S.N., Zhirov I.V, et al. Amyloidosis of the heart. Moscow,2022;35[in Russian].

3. Witteles R.M., Bokhari S., Damy T., et al. Screening for Transthyretin Amyloid Cardiomyopathy in Everyday Practice. JACC Heart Fail. 2019 Aug;7(8):709-716. doi: 10.1016/j.jchf.2019.04.010.

4. Gioeva Z.V., Mikhaleva L.M., Gutyrchik N.A., et al. Histopathological and Immunohistochemical Characteristics of Different Types of Cardiac Amyloidosis. Int J Mol Sci. 2024 Oct 3;25(19):10667. doi: 10.3390/ijms251910667.

5. Tereshchenko S.N., Zhirov I.V, Moiseeva O.M., et al. Practical guidelines for the diagnosis and treatment of transthyretin amyloid cardiomyopathy (ATTR-CM or transthyretin cardiac amyloidosis). Ter Arkh. 2022 May 26; 94(4):584-595. doi: 10.26442/00403660.2022.04.201465. [in Russian].

6. Pagura L.,Porcari A., Cameli M., et al. ECG/echo indexes in the diagnostic aproach to amyloid cardiomyopathy: A head-to-head comparison from the ACTIVE study. European Journal of Internal Medicine.2023 doi: 10.1016/j.ejim.2023.09.026

7. Ali G.M. S., Seme W.A. E., Dudhat K. Examining the Difficulties in Identifying and Handling Cardiac Amyloidosis; Acquiring Important Knowledge and Robust Treatment Methods. Cardiovasc Hematol Disord Drug Targets. 2024;24(2):65-82. doi: 10.2174/011871529X301954240715041558.

8. Giancaterino S., Urey M.A., Darden D., et al. Management of arrhythmias in cardiac amyloidosis. J Am Coll Cardiol Clin Electrophysiol. 2020; Apr;6(4):351-361. doi: 10.1016/j.jacep.2020.01.004.

9. Riefolo M, Conti M., Longhi S., et al. Amyloidosis: what does pathology offer? The evolving field of tissue biopsy. Front Cardiovasc Med. 2022 Dec 5;9:1081098. doi: 10.3389/fcvm.2022.1081098.

10. Muchtar E., Dispenzieri A., Magen H., et al. Systemic amyloidosis from A (AA) to T (ATTR): a review. J Intern Med. 2021 Mar;289(3):268-292. doi: 10.1111/joim.13169.

11. Nicol M., Deney A., Lairez O., et al. Prognostic value of cardiopulmonary exercise testing in cardiac amyloidosis. Eur J Heart Fail. 2021;23:231–239. doi: 10.1002/ejhf.2016. Epub 2020 Oct 22. PMID: 33006180.

12. Lohner L., Ondruschka B., Garland J., et al. Comparison of ante- and postmortem ventricular wall thickness using echocardiography and autopsy findings. Virchows Arch. 2024 Nov 8. doi: 10.1007/s00428-024-03960-z. Epub ahead of print.

13. Senigarapu S., Driscoll J.J. A review of recent clinical trials to evaluate disease-modifying therapies in the treatment of cardiac amyloidosis. Front Med (Lausanne). 2024 Oct 30;11:1477988. doi: 10.3389/fmed.2024.1477988.

14. Siddiqi O.K., Mints Y.Y., Berk J.L., et al. Diflunisal treatment is associated with improved survival for patients with early stage wild-type transthyretin (ATTR) amyloid cardiomyopathy: the Boston University Amyloidosis Center experience. Amyloid. 2022;29:71–78. doi: 10.1080/13506129.2021.2000388.