Preview

New St. Petersburg Medical Records

Advanced search

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. Vorobyeva
Pavlov University
Russian 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
Pavlov University
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
Pavlov University
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
Pavlov University
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
Pavlov University
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
Pavlov University
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
Pavlov University
Russian Federation

Yulia F. Vladimirova, Doctor of Functional Diagnostics,
Cand. of Sci. (Med.), Assistant Professor, Department of Functional Diagnostics

Saint Petersburg



E. V. Kirillova
Pavlov University
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

Views: 3


Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.


ISSN 1609-2201 (Print)