Clinical case of hereditary transthyretin amyloidosis with predominant heart involvement
https://doi.org/10.24884/1609-2201-2025-104-2-55-66
Abstract
Transthyretin amyloidosis (ATTR) with predominant cardiac involvement rapidly leads to severe heart failure. The disease is not uncommon in elderly patients and is perceived as part of a comorbid pathology, so it is often diagnosed at late stages. The purpose of this publication is to demonstrate a unique clinical case of hereditary transthyretin amyloidosis with non-invasive verification of the diagnosis, safe and relatively accessible compared to myocardial biopsy. Early diagnosis of amyloid cardiomyopathy allows timely initiation of pathogenetic therapy.
About the Authors
S. V. VorobyevaRussian Federation
Snezhana V. Vorobyeva, physician of the therapeutic department 3 of the Clinic of the research Institute of Nephrology of the Clinic of the Clinical research Center
6–8, L’va Tolstogo str., Saint Petersburg, 197022
S. V. Molokovskikh
Russian Federation
Stanislava V. Molokovskikh, physician of the therapeutic department 3 of the Clinic of the research Institute of Nephrology of the Clinic of the Clinical research Center
Saint Petersburg
V. O. Chaplya
Russian Federation
Vladislava O. Chaplya, resident of Department of Propaedeutics of Internal Diseases with clinic named after acad. M. D. Tushinksy
Saint Petersburg
N. D. Grigoreva
Russian Federation
Natalia D. Grigoreva, Cand. of Sci. (Med.), head of the therapeutic department 3 of the Clinic of the research Institute of Nephrology of the Clinic of the Clinical research Center
Saint Petersburg
A. N. Kulikov
Russian Federation
Alexander N. Kulikov, Dr. of Sci. (Med.), Professor, Head of the Department of Propaedeutics of Internal Diseases with clinic named after acad. M. D. Tushinksy, Head of the Department of Functional Diagnostics, Director of the Scientific and Clinical Research Center
Saint Petersburg
E. A. Borovskaya
Russian Federation
Elena A. Borovskaya, Head of the Functional Diagnostics Department, Cand. of Sci. (Med.), Associate Professor of the Functional Diagnostics Department
Saint Petersburg
Yu. F. Vladimirova
Russian Federation
Yulia F. Vladimirova, Doctor of Functional Diagnostics,
Cand. of Sci. (Med.), Assistant Professor, Department of Functional Diagnostics
Saint Petersburg
E. V. Kirillova
Russian Federation
Elena V. Kirillova, ultrasound diagnostics physician
Saint Petersburg
References
1. 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(38):2585–94. https://doi.org/10.1093/eurheartj/ehv338. PMID: 26224076.
2. Bennani Smires Y., Victor G., Ribes D. et al. Pilot study for left ventricular imaging phenotype of patients over 65 years old with heart failure and preserved ejection fraction: the high prevalence of amyloid cardiomyopathy. Int J Cardiovasc Imaging. 2016;32(9):1403– 1413. https://doi.org/10.1007/s10554-016-0915-z. PMID: 27240600
3. Nikiforova T. V., Charaya K. V., Shchekochikhin D. Yu. et al. First data on the prevalence of transthyretin amyloidosis in left ventricular hypertrophy in Russia. Cardiology. 2024;64(4):54–60. (In Russ.). https://doi.org/10.18087/cardio.2024.4.n2611.
4. Ruberg F. L., Maurer M. S. Cardiac Amyloidosis Due to Transthyretin Protein: A Review. JAMA. 2024;331(9):778–791.
5. Gowda S. N., Ali H. J., Hussain I. Overview of Restrictive Cardiomyopathies. Methodist Debakey Cardiovasc J. 2022;18(2):4– 16. https://doi.org/10.14797/mdcvj.1078. PMID: 35414858; PMCID: PMC8932380.
6. 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. https://doi.org/10.1093/eurheartj/ehab072. PMID: 33825853; PMCID: PMC8060056.
7. Poli L., Labella B., Cotti Piccinelli S. et al. Hereditary transthyretin amyloidosis: a comprehensive review with a focus on peripheral neuropathy. Front Neurol. 2023;14:1242815. https://doi.org/10.3389/fneur.2023.1242815. PMID: 37869146; PMCID: PMC10585157.
8. Nativi-Nicolau J. N., Karam C., Khella S., Maurer M. S. Screening for ATTR amyloidosis in the clinic: overlapping disorders, misdiagnosis, and multiorgan awareness. Heart Fail Rev. 2022;27(3):785–793. https://doi.org/10.1007/s10741-021-10080-2. MID: 33609196; PMCID: PMC9033715.
9. Kittleson M., Ruberg F., Ambardekar A. 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. JACC. 2023;81(11):1076–1126.
10. Koike H., Katsuno M. Ultrastructure in Transthyretin Amyloidosis: From Pathophysiology to Therapeutic Insights. Biomedicines. 2019;7(1):11. https://doi.org/10.3390/biomedicines7010011. PMID: 30764529; PMCID: PMC6466231.
11. Sayed R. H., Rogers D., Khan F. et al. A study of implanted cardiac rhythm recorders in advanced cardiac AL amyloidosis. Eur Heart J. 2015;36(18):1098–105. https://doi.org/10.1093/eurheartj/ehu506. PMID: 25549725.
12. Martinez-Naharro A., Hawkins P. N., Fontana M. Cardiac amyloidosis. Clin Med (Lond). 2018;18(Suppl 2):s30–s35. https://doi.org/10.7861/clinmedicine.18-2-s30. PMID: 29700090; PMCID: PMC6334035.
13. Maurer M. S., Schwartz J. H., Gundapaneni B. et al. Tafamidis Treatment for Patients with Transthyretin Amyloid Cardiomyopathy. N Engl J Med. 2018;379(11):1007–1016. https://doi.org/10.1056/NEJMoa1805689. PMID: 30145929.
Review
For citations:
Vorobyeva S.V., Molokovskikh S.V., Chaplya V.O., Grigoreva N.D., Kulikov A.N., Borovskaya E.A., Vladimirova Yu.F., Kirillova E.V. Clinical case of hereditary transthyretin amyloidosis with predominant heart involvement. New St. Petersburg Medical Records. 2025;(2):55-66. (In Russ.) https://doi.org/10.24884/1609-2201-2025-104-2-55-66
