A clinical case of hereditary transthyretin amyloidosis. Case report
- Authors: Shoshina A.A.1, Nasonova S.N.1, Zhirov I.V.1,2, Saidova M.A.1, Ansheles A.A.1, Meshkov A.N.1,3,4, Tereshchenko S.N.1
-
Affiliations:
- Chazov National Medical Research Center of Cardiology
- Russian Medical Academy of Continuous Professional Education
- National Research Center for Therapy and Preventive Medicine
- Bochkov Research Centre for Medical Genetics
- Issue: Vol 25, No 1 (2023): Cardiovascular diseases
- Pages: 69-73
- Section: Articles
- URL: https://journals.rcsi.science/2075-1753/article/view/131659
- DOI: https://doi.org/10.26442/20751753.2023.1.202172
- ID: 131659
Cite item
Full Text
Abstract
For several years, there has been a significant increase in the number of patients diagnosed with cardiac amyloidosis. However, there are still difficulties associated with the diagnosis, identifying its type and further treatment of the disease. The diversity of the clinical symptoms, the absence of pathognomonic symptoms make it difficult to diagnose, which leads to the progression of the disease. Heart involvement is the main cause of morbidity and mortality in systemic amyloidosis, regardless of the underlying pathogenesis of amyloid production, and in most cases amyloid cardiomyopathy is clinically manifested by rapidly progressive symptoms of heart failure. The article presents a clinical case of a patient with a hereditary type of systemic transthyretin amyloidosis with the involvement of heart, kidneys, liver, nervous system, and the identified mutation in the TTR gene (p.Y89F) has not been previously described in the Russian Federation.
Full Text
##article.viewOnOriginalSite##About the authors
Anastasia A. Shoshina
Chazov National Medical Research Center of Cardiology
Email: Nastiatriff@mail.ru
ORCID iD: 0000-0002-9519-7373
Medical Resident
Russian Federation, MoscowSvetlana N. Nasonova
Chazov National Medical Research Center of Cardiology
Email: dr.nasonova@mail.ru
ORCID iD: 0000-0002-0920-7417
Cand. (Sci.) Med.
Russian Federation, MoscowIgor V. Zhirov
Chazov National Medical Research Center of Cardiology; Russian Medical Academy of Continuous Professional Education
Author for correspondence.
Email: izhirov@mail.ru
ORCID iD: 0000-0002-4066-2661
D. (Sci.) Med.
Russian Federation, Moscow; MoscowMarina A. Saidova
Chazov National Medical Research Center of Cardiology
Email: dr.nasonova@mail.ru
ORCID iD: 0000-0002-3233-1862
D. (Sci.) Med., Prof.
Russian Federation, MoscowAlexey A. Ansheles
Chazov National Medical Research Center of Cardiology
Email: dr.nasonova@mail.ru
ORCID iD: 0000-0002-2675-3276
D. (Sci.) Med.
Russian Federation, MoscowAleksei N. Meshkov
Chazov National Medical Research Center of Cardiology; National Research Center for Therapy and Preventive Medicine; Bochkov Research Centre for Medical Genetics
Email: dr.nasonova@mail.ru
ORCID iD: 0000-0001-5989-6233
D. (Sci.) Med.
Russian Federation, Moscow; Moscow; MoscowSergey N. Tereshchenko
Chazov National Medical Research Center of Cardiology
Email: dr.nasonova@mail.ru
ORCID iD: 0000-0001-9234-6129
D. (Sci.) Med., Prof.
Russian Federation, MoscowReferences
- Насонова С.Н., Жиров И.В., Магомедов М.М., и др. Опыт применения тафамидиса у пациентки с транстиретиновым амилоидозом. Кардиология. 2020;60(3):155-60 [Nasonova SN, Zhirov IV, Magomedov MM, et al. Experience with tafamidis in a patient with transthyretin amyloidosis. Kardiologiya. 2020;60(3):155-60 (in Russian)]. doi: 10.18087/cardio.2020.3.n824
- Oerlemans MIFJ, Rutten KHG, Minnema MC, et al. Cardiac amyloidosis: the need for early diagnosis. Neth Heart J. 2019;27:525-36. doi: 10.1007/s12471-019-1299-1
- de Marneffe N, Dulgheru R, Ancion A, et al. Cardiac amyloidosis: a review of the literature. Acta Cardiol. 2022;77(8):683-92. doi: 10.1080/00015385.2021.1992990
- Martinez-Naharro A, Hawkins PN, Fontana M. Cardiac amyloidosis. Clin Med (Lond). 2018;18(Suppl. 2):s30-5. doi: 10.7861/clinmedicine.18-2-s30
- Ruberg FL, Berk JL. Transthyretin (TTR) cardiac amyloidosis. Circulation. 2012;126(10):1286-300. doi: 10.1161/CIRCULATIONAHA.111.078915
- Терещенко С.Н., Жиров И.В., Моисеева О.М., и др. Практические рекомендации по диагностике транстиретиновой амилоидной кардиомиопатии (ATTR-КМП или транстиретинового амилоидоза сердца). Терапевтический архив. 2022;94(4):584-95 [Tereshchenko SN, Zhirov IV, Moiseeva OM, et al. Practical guidelines for the diagnosis and treatment of transthyretin amyloid cardiomyopathy (ATTR-CM or transthyretin cardiac amyloidosis). Terapevticheskii Arkhiv (Ter. Arkh.). 2022;94(4):584-95 (in Russian)]. doi: 10.26442/00403660.2022.04.201465
- Giancaterino S, Urey MA, Darden D, Hsu JC. Management of Arrhythmias in Cardiac Amyloidosis. JACC: Clinical Electrophysiology. 2020;6(4):351-61. doi: 10.1016/j.jacep.2020.01.004
- Лысенко (Козловская) Л.В., Рамеев В.В., Моисеев С.В., и др. Клинические рекомендации по диагностике и лечению системного амилоидоза. Клиническая фармакология и терапия. 2020;29(1):13-24 [Lysenko (Kozlovskaya) LV, Rameev VV, Moiseev S, et al. Clinical guidelines for diagnosis and treatment of systemic amyloidosis. Klinicheskaya farmakologiya i terapiya = Clin Pharmacol Therapy. 2020;29(1):13-24 (in Russian)]. doi: 10.32756/0869-5490-2020-1-13-24
- Dorbala S, Ando Y, Bokhari S, 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. J Nucl Cardiol. 2019;26(6):2065-123. doi: 10.1007/s12350-019-01760-6. Erratum in: J Nucl Cardiol. 2021;28(4):1761-62. PMID: 31468376.
- Gillmore JD, Damy T, Fontana M, et al. A new staging system for cardiac transthyretin amyloidosis. Eur Heart J. 2018;39(30):2799-806. doi: 10.1093/eurheartj/ehx589
- Fontana M, Martinez-Naharro A, Chacko L, et al. Reduction in CMR Derived Extracellular Volume With Patisiran Indicates Cardiac Amyloid Regression. JACC: Cardiovascular Imaging. 2021;14(1):189-99. doi: 10.1016/j.jcmg.2020.07.043
Supplementary files
