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Практические рекомендации по диагностике транстиретиновой амилоидной кардиомиопатии (ATTR-КМП или транстиретинового амилоидоза сердца) - Журнал Терапевтический архив №4 Вопросы диагностики внутренних болезней 2022
Практические рекомендации по диагностике транстиретиновой амилоидной кардиомиопатии (ATTR-КМП или транстиретинового амилоидоза сердца)
Терещенко С.Н., Жиров И. В., Моисеева О.М., Адашева Т.В., Аншелес А.А., Барбараш О.Л., Галявич А.С., Гудкова А.Я., Затейщиков Д.А., Костарева А.А., Насонова С.Н., Недогода С.В., Печерина Т.Б., Рыжкова Д.В., Сергиенко В.Б. Практические рекомендации по диагностике транстиретиновой амилоидной кардиомиопатии (ATTR-КМП или транстиретинового амилоидоза сердца). Терапевтический архив. 2022;94(4):584–595. DOI: 10.26442/00403660.2022.04.201465
DOI: 10.26442/00403660.2022.04.201465
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DOI: 10.26442/00403660.2022.04.201465
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Аннотация
В статье суммированы данные обновленных международных протоколов и рекомендаций по диагностике транстиретиновой амилоидной кардиомиопатии (ATTR-КМП). Представлен краткий обзор по методам инвазивной и неинвазивной диагностики и их сочетаниям, для каждой из диагностических опций и инструментов приводится анализ доказательной базы. В статье описан адаптированный алгоритм последовательной диагностики и дифференциальной диагностики пациентов с подозрением на ATTR-КМП с учетом сочетания клинических проявлений и данных обследования. Предлагаемый алгоритм в сочетании с осведомленностью специалистов первичного звена о «красных флагах» заболевания и визуализирующих критериях, а также информирование пациента о возможности терапии ATTR-амилоидоза и опасностях отсроченной постановки диагноза позволят обеспечить своевременную маршрутизацию пациента и назначение специфического лечения.
Ключевые слова: транстиретиновая амилоидная кардиомиопатия, клинические рекомендации, диагностика, сердечная недостаточность с сохранной фракцией выброса, сцинтриграфия
Keywords: transthyretin amyloid cardiomyopathy, clinical guidelines, diagnosis, heart failure with preserved ejection fraction, scintigraphy
Ключевые слова: транстиретиновая амилоидная кардиомиопатия, клинические рекомендации, диагностика, сердечная недостаточность с сохранной фракцией выброса, сцинтриграфия
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Keywords: transthyretin amyloid cardiomyopathy, clinical guidelines, diagnosis, heart failure with preserved ejection fraction, scintigraphy
Полный текст
Список литературы
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13. Conceição I, Damy T, Romero M, et al. Early diagnosis of ATTR amyloidosis through targeted follow-up of identified carriers of TTR gene mutations. Amyloid. 2019;26(1):3-9.
DOI:10.1080/13506129.2018.1556156
14. Akinboboye O, Shah K, Warner AL, et al. DISCOVERY: prevalence of transthyretin (TTR) mutations in a US-centric patient population suspected of having cardiac amyloidosis. Amyloid. 2020;27(4):223-30. DOI:10.1080/13506129.2020.1764928
15. Yamashita T, Ueda M, Misumi Y, et al. Genetic and clinical characteristics of hereditary transthyretin amyloidosis in endemic and non-endemic areas: experience from a single-referral center in Japan. J Neurol. 2018;265(1):134-40. DOI:10.1007/s00415-017-8640-7
16. Golbus JR, Wells JM, Dickinson MG, Hummel SL. Importance of Genetic Testing in the Diagnosis of Transthyretin Cardiac Amyloidosis. Am J Med. 2018;131(7):e303-4. DOI:10.1016/j.amjmed.2018.02.005
17. Rowczenio D, Quarta CC, Fontana M, et al. Analysis of the TTR gene in the investigation of amyloidosis: A 25-year single UK center experience. Hum Mutat. 2019;40(1):90-6. DOI:10.1002/humu.23669
18. Cheng RK, Vasbinder A, Levy WC, et al. Lack of Association Between Neurohormonal Blockade and Survival in Transthyretin Cardiac Amyloidosis. J Am Heart Assoc. 2021;10(24):e022859. DOI:10.1161/JAHA.121.022859
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(in Russian). DOI:10.18087/cardio.2020.3.n824
20. 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
21. Kurian SM, Novais M, Whisenant T, et al. Peripheral blood cell gene expression diagnostic for identifying symptomatic transthyretin amyloidosis patients: Male and female specific signatures. Theranostics. 2016;6(11):1792-809. DOI:10.7150/thno.14584
22. Obici L, Kuks JB, Buades J, et al. Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis. Curr Opin Neurol. 2016;29:S27-35. DOI:10.1097/WCO.0000000000000290
23. Lahuerta Pueyo C, Aibar Arregui MÁ, Gracia Gutierrez A, et al. Estimating the prevalence of allelic variants in the transthyretin gene by analysing large-scale sequencing data. Eur J Hum Genet. 2019;27(5):783-91. DOI:10.1038/s41431-019-0337-1
24. Maurer MS. Non-invasive Identification of ATTRwt Cardiac Amyloid (aka Senile Cardiac Amyloid): The Re-emergence of Nuclear Cardiology. Am J Med. 2015;155(1):3-12. DOI:10.1016/j.amjmed.2015.05.039
25. Kazi DS, Bellows BK, Baron SJ, et al. Cost-effectiveness of tafamidis therapy for transthyretin amyloid cardiomyopathy. Circulation. 2020;141(15):1214-24. DOI:10.1161/CIRCULATIONAHA.119.045093
26. Bistola V, Parissis J, Foukarakis E, et al. Practical recommendations for the diagnosis and management of transthyretin cardiac amyloidosis. Heart Fail Rev. 2021;26(4):861-79. DOI:10.1007/s10741-020-10062-w
27. Yilmaz A, Bauersachs J, Bengel F, et al. Diagnosis and treatment of cardiac amyloidosis: position statement of the German Cardiac Society (DGK). Clin Res Cardiol. 2021;110(4):479-506. DOI:10.1007/s00392-020-01799-3
28. Maurer MS, Schwartz JH, Gundapaneni B, et al. Tafamidis Treatment for Patients with Transthyretin Amyloid Cardiomyopathy. N Engl J Med. 2018;379(11):1007-16. DOI:10.1056/NEJMoa1805689
29. 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 2 of 2 – Diagnostic criteria and appropriate utilization. J Nucl Cardiol. 2020;27(2):659-73. DOI:10.1007/s12350-019-01761-5
30. Ando Y, Coelho T, Berk JL, et al. Guideline of transthyretin-related hereditary amyloidosis for clinicians. Orphanet J Rare Dis. 2013;8(1):1-18. DOI:10.1186/1750-1172-8-31
31. Bonderman D, Pölzl G, Ablasser K, et al. Diagnosis and treatment of cardiac amyloidosis: an interdisciplinary consensus statement. Wien Klin Wochenschr. 2020;132(23-24):742-61. DOI:10.1007/s00508-020-01781-z
32. Caobelli F, Braun M, Haaf P, et al. Quantitative 99mTc-DPD SPECT/CT in patients with suspected ATTR cardiac amyloidosis: Feasibility and correlation with visual scores. J Nucl Cardiol. 2020;27(5):1456-63. DOI:10.1007/s12350-019-01893-8
33. Conceição I, Coelho T, Rapezzi C, et al. Assessment of patients with hereditary transthyretin amyloidosis – understanding the impact of management and disease progression. Amyloid. 2019;26(3):103-11. DOI:10.1080/13506129.2019.1627312
34. Maurer MS, Bokhari S, Damy T, et al. Expert Consensus Recommendations for the Suspicion and Diagnosis of Transthyretin Cardiac Amyloidosis. Circ Hear Fail. 2019;12(9):1-11. DOI:10.1161/CIRCHEARTFAILURE.119.006075
35. Musumeci MB, Cappelli F, Russo D, et al. Low Sensitivity of Bone Scintigraphy in Detecting Phe64Leu Mutation-Related Transthyretin Cardiac Amyloidosis. JACC Cardiovasc Imaging. 2020;13(6):1314-21. DOI:10.1016/j.jcmg.2019.10.015.
36. Park GY, Jamerlan A, Shim KH, An SSA. Diagnostic and treatment approaches involving transthyretin in amyloidogenic diseases. Int J Mol Sci. 2019;20(12). DOI:10.3390/ijms20122982
37. Maurer MS, Elliott P, Comenzo R, et al. Addressing Common Questions Encountered in the Diagnosis and Management of Cardiac Amyloidosis. Circulation. 2017;135(14):1357-77. DOI:10.1161/CIRCULATIONAHA.116.024438
38. Rubina J, Steidleyb DE, Carlssonc M, et al. Myocardial Contraction Fraction by M-Mode Echocardiography is Superior to Ejection Fraction in Predicting Mortality in Transthyretin Amyloidosis. J Card Fail. 2018;24(8):504-11. DOI:10.1016/j.cardfail.2018.07.001
39. Borlaug BA, Paulus WJ. Heart failure with preserved ejection fraction: Pathophysiology, diagnosis, and treatment. Eur Heart J. 2011;32(6):670‑9. DOI:10.1093/eurheartj/ehq426
40. Kittleson MM, Maurer MS, Ambardekar AV, et al. Cardiac Amyloidosis: Evolving Diagnosis and Management: A Scientific Statement from the American Heart Association. Circulation. 2020;142(1):E7-22. DOI:10.1161/CIR.0000000000000792
41. Tanskanen M, Peuralinna T, Polvikoski T, 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. Ann Med. 2008;40(3):232-9. DOI:10.1080/07853890701842988
42. Lysenko (Kozlovskaya) LV, Rameev VV, Moiseev S, et al. Clinical guidelines for diagnosis and treatment of systemic amyloidosis. Clin Pharmacol Ther. 2020;29(1):13-24. DOI:10.32756/0869-5490-2020-1-13-24
43. Rosenblum H, Masri A, Narotsky DL, et al. Unveiling outcomes in coexisting severe aortic stenosis and transthyretin cardiac amyloidosis. Eur J Heart Fail. 2021;23(2):250-8. DOI:10.1002/ejhf.1974
44. Hutt DF, Quigley AM, Page J, et al. Utility and limitations of 3,3-diphosphono-1, 2-propanodicarboxylic acid scintigraphy in systemic amyloidosis. Eur Heart J Cardiovasc Imaging. 2014;15(11):1289‑98. DOI:10.1093/ehjci/jeu107
45. Poterucha TJ, Elias P, Bokhari S, et al. Diagnosing Transthyretin Cardiac Amyloidosis by Technetium Tc 99m Pyrophosphate: A Test in Evolution. JACC Cardiovasc Imaging. 2021;14(6):1221-31. DOI:10.1016/j.jcmg.2020.08.027
46. Gertz M, Adams D, Ando Y, et al. Avoiding misdiagnosis: Expert consensus recommendations for the suspicion and diagnosis of transthyretin amyloidosis for the general practitioner. BMC Fam Pract. 2020;21(1):1-12. DOI:10.1186/s12875-020-01252-4
47. Sprangers B, Claes K, Evenepoel P, et al. Comparison of 2 Serum-Free Light-Chain Assays in CKD Patients. Kidney Int Rep. 2020;5(5):627-31.
DOI:10.1016/j.ekir.2020.01.019
48. De Lillo A, De Angelis F, Di Girolamo M, et al. Phenome-wide association study of TTR and RBP4 genes in 361,194 individuals reveals novel insights in the genetics of hereditary and wildtype transthyretin amyloidoses. Hum Genet. 2019;138(11-12):1331-40. DOI:10.1007/s00439-019-02078-6
49. Lane T, Fontana M, Martinez-Naharro A, et al. Natural History, Quality of Life, and Outcome in Cardiac Transthyretin Amyloidosis. Circulation. 2019;140(1):16-26. DOI:10.1161/CIRCULATIONAHA.118.038169
50. López-Sainz Á, Hernandez-Hernandez A, Gonzalez-Lopez E, et al. Clinical profile and outcome of cardiac amyloidosis in a Spanish referral center. Rev Española Cardiol. 2021;74(2):149-58. DOI:10.1016/j.rec.2019.12.020
51. Adyan TA, Polyakov AV. Hereditary transthyretin amyloidosis. Neuromuscular Diseases. 2019;9(4):12-25 (in Russian). DOI:10.17650/2222-8721-2019-9-4-12-25
52. Siddiqi OK, Ruberg FL. Cardiac Amyloidosis: An Update on Pathophysiology, Diagnosis, and Treatment HHS Public Access Introduction and Classification. Trends Cardiovasc Med. 2018;28(1):10-21. DOI:10.1016/j.tcm.2017.07.004
53. Adams D, Koike H, Slama M, Coelho T. Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease. Nat Rev Neurol. 2019;15(7):387-404. DOI:10.1038/s41582-019-0210-4
54. Rapezzi C, Quarta CC, Riva L, et al. Transthyretin-related amyloidoses and the heart: A clinical overview. Nat Rev Cardiol. 2010;7(7):398-408. DOI:10.1038/nrcardio.2010.67
55. Goyal A, Lahan S, Dalia T, et al. Clinical comparison of V122I genotypic variant of transthyretin amyloid cardiomyopathy with wild-type and other hereditary variants: a systematic review. Heart Fail Rev. 2021. DOI:10.1007/s10741-021-10098-6
56. Garcia-Pavia P, Bengel F, Brito D, et al. Expert consensus on the monitoring of transthyretin amyloid cardiomyopathy. Eur J Heart Fail. 2021;23(6):895-905. DOI:10.1002/ejhf.2198
57. Gertz MA, Comenzo R, Falk RH, et al. Definition of organ involvement and treatment response in immunoglobulin light chain amyloidosis (AL): A consensus opinion from the 10th International Symposium on Amyloid and Amyloidosis. Am J Hematol. 2005;79(4):319-28. DOI:10.1002/ajh.20381
58. Yamamoto H, Yokochi T. Transthyretin cardiac amyloidosis: an update on diagnosis and treatment. ESC Hear Fail. 2019;6(6):1128-39. DOI:10.1002/ehf2.12518
59. Damy T, Garcia-Pavia P, Hanna M, et al. Efficacy and safety of tafamidis doses in the Tafamidis in Transthyretin Cardiomyopathy Clinical Trial (ATTR-ACT) and long-term extension study. Eur J Heart Fail. 2021;23(2):277-85. DOI:10.1002/ejhf.2027
60. Cho Y, Baranczak A, Helmke S, et al. Personalized medicine approach for optimizing the dose of tafamidis to potentially ameliorate wild-type transthyretin amyloidosis (cardiomyopathy). Amyloid. 2015;22(3):175-80. DOI:10.3109/13506129.2015.1063485
61. Adams D, Algalarrondo V, Polydefkis M, et al. Expert opinion on monitoring symptomatic hereditary transthyretin-mediated amyloidosis and assessment of disease progression. Orphanet J Rare Dis. 2021;16(1):411. DOI:10.1186/s13023-021-01960-9
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63. Nitsche C, Aschauer S, Kammerlander AA, et al. Light-chain and transthyretin cardiac amyloidosis in severe aortic stenosis: prevalence, screening possibilities, and outcome. Eur J Heart Fail. 2020;22(10):1852‑62. DOI:10.1002/ejhf.1756
2. 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):1554-68. DOI:10.1093/eurheartj/ehab072
3. Witteles RM, Bokhari S, Damy T, et al. Screening for Transthyretin Amyloid Cardiomyopathy in Everyday Practice. JACC Hear Fail. 2019;7(8):709-16. DOI:10.1016/j.jchf.2019.04.010
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12. Gillmore JD, Maurer MS, Falk RH, et al. Nonbiopsy diagnosis of cardiac transthyretin amyloidosis. Circulation. 2016;133(24):2404-12.
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24. Maurer MS. Non-invasive Identification of ATTRwt Cardiac Amyloid (aka Senile Cardiac Amyloid): The Re-emergence of Nuclear Cardiology. Am J Med. 2015;155(1):3-12. DOI:10.1016/j.amjmed.2015.05.039
25. Kazi DS, Bellows BK, Baron SJ, et al. Cost-effectiveness of tafamidis therapy for transthyretin amyloid cardiomyopathy. Circulation. 2020;141(15):1214-24. DOI:10.1161/CIRCULATIONAHA.119.045093
26. Bistola V, Parissis J, Foukarakis E, et al. Practical recommendations for the diagnosis and management of transthyretin cardiac amyloidosis. Heart Fail Rev. 2021;26(4):861-79. DOI:10.1007/s10741-020-10062-w
27. Yilmaz A, Bauersachs J, Bengel F, et al. Diagnosis and treatment of cardiac amyloidosis: position statement of the German Cardiac Society (DGK). Clin Res Cardiol. 2021;110(4):479-506. DOI:10.1007/s00392-020-01799-3
28. Maurer MS, Schwartz JH, Gundapaneni B, et al. Tafamidis Treatment for Patients with Transthyretin Amyloid Cardiomyopathy. N Engl J Med. 2018;379(11):1007-16. DOI:10.1056/NEJMoa1805689
29. 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 2 of 2 – Diagnostic criteria and appropriate utilization. J Nucl Cardiol. 2020;27(2):659-73. DOI:10.1007/s12350-019-01761-5
30. Ando Y, Coelho T, Berk JL, et al. Guideline of transthyretin-related hereditary amyloidosis for clinicians. Orphanet J Rare Dis. 2013;8(1):1-18. DOI:10.1186/1750-1172-8-31
31. Bonderman D, Pölzl G, Ablasser K, et al. Diagnosis and treatment of cardiac amyloidosis: an interdisciplinary consensus statement. Wien Klin Wochenschr. 2020;132(23-24):742-61. DOI:10.1007/s00508-020-01781-z
32. Caobelli F, Braun M, Haaf P, et al. Quantitative 99mTc-DPD SPECT/CT in patients with suspected ATTR cardiac amyloidosis: Feasibility and correlation with visual scores. J Nucl Cardiol. 2020;27(5):1456-63. DOI:10.1007/s12350-019-01893-8
33. Conceição I, Coelho T, Rapezzi C, et al. Assessment of patients with hereditary transthyretin amyloidosis – understanding the impact of management and disease progression. Amyloid. 2019;26(3):103-11. DOI:10.1080/13506129.2019.1627312
34. Maurer MS, Bokhari S, Damy T, et al. Expert Consensus Recommendations for the Suspicion and Diagnosis of Transthyretin Cardiac Amyloidosis. Circ Hear Fail. 2019;12(9):1-11. DOI:10.1161/CIRCHEARTFAILURE.119.006075
35. Musumeci MB, Cappelli F, Russo D, et al. Low Sensitivity of Bone Scintigraphy in Detecting Phe64Leu Mutation-Related Transthyretin Cardiac Amyloidosis. JACC Cardiovasc Imaging. 2020;13(6):1314-21. DOI:10.1016/j.jcmg.2019.10.015.
36. Park GY, Jamerlan A, Shim KH, An SSA. Diagnostic and treatment approaches involving transthyretin in amyloidogenic diseases. Int J Mol Sci. 2019;20(12). DOI:10.3390/ijms20122982
37. Maurer MS, Elliott P, Comenzo R, et al. Addressing Common Questions Encountered in the Diagnosis and Management of Cardiac Amyloidosis. Circulation. 2017;135(14):1357-77. DOI:10.1161/CIRCULATIONAHA.116.024438
38. Rubina J, Steidleyb DE, Carlssonc M, et al. Myocardial Contraction Fraction by M-Mode Echocardiography is Superior to Ejection Fraction in Predicting Mortality in Transthyretin Amyloidosis. J Card Fail. 2018;24(8):504-11. DOI:10.1016/j.cardfail.2018.07.001
39. Borlaug BA, Paulus WJ. Heart failure with preserved ejection fraction: Pathophysiology, diagnosis, and treatment. Eur Heart J. 2011;32(6):670‑9. DOI:10.1093/eurheartj/ehq426
40. Kittleson MM, Maurer MS, Ambardekar AV, et al. Cardiac Amyloidosis: Evolving Diagnosis and Management: A Scientific Statement from the American Heart Association. Circulation. 2020;142(1):E7-22. DOI:10.1161/CIR.0000000000000792
41. Tanskanen M, Peuralinna T, Polvikoski T, 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. Ann Med. 2008;40(3):232-9. DOI:10.1080/07853890701842988
42. Lysenko (Kozlovskaya) LV, Rameev VV, Moiseev S, et al. Clinical guidelines for diagnosis and treatment of systemic amyloidosis. Clin Pharmacol Ther. 2020;29(1):13-24. DOI:10.32756/0869-5490-2020-1-13-24
43. Rosenblum H, Masri A, Narotsky DL, et al. Unveiling outcomes in coexisting severe aortic stenosis and transthyretin cardiac amyloidosis. Eur J Heart Fail. 2021;23(2):250-8. DOI:10.1002/ejhf.1974
44. Hutt DF, Quigley AM, Page J, et al. Utility and limitations of 3,3-diphosphono-1, 2-propanodicarboxylic acid scintigraphy in systemic amyloidosis. Eur Heart J Cardiovasc Imaging. 2014;15(11):1289‑98. DOI:10.1093/ehjci/jeu107
45. Poterucha TJ, Elias P, Bokhari S, et al. Diagnosing Transthyretin Cardiac Amyloidosis by Technetium Tc 99m Pyrophosphate: A Test in Evolution. JACC Cardiovasc Imaging. 2021;14(6):1221-31. DOI:10.1016/j.jcmg.2020.08.027
46. Gertz M, Adams D, Ando Y, et al. Avoiding misdiagnosis: Expert consensus recommendations for the suspicion and diagnosis of transthyretin amyloidosis for the general practitioner. BMC Fam Pract. 2020;21(1):1-12. DOI:10.1186/s12875-020-01252-4
47. Sprangers B, Claes K, Evenepoel P, et al. Comparison of 2 Serum-Free Light-Chain Assays in CKD Patients. Kidney Int Rep. 2020;5(5):627-31.
DOI:10.1016/j.ekir.2020.01.019
48. De Lillo A, De Angelis F, Di Girolamo M, et al. Phenome-wide association study of TTR and RBP4 genes in 361,194 individuals reveals novel insights in the genetics of hereditary and wildtype transthyretin amyloidoses. Hum Genet. 2019;138(11-12):1331-40. DOI:10.1007/s00439-019-02078-6
49. Lane T, Fontana M, Martinez-Naharro A, et al. Natural History, Quality of Life, and Outcome in Cardiac Transthyretin Amyloidosis. Circulation. 2019;140(1):16-26. DOI:10.1161/CIRCULATIONAHA.118.038169
50. López-Sainz Á, Hernandez-Hernandez A, Gonzalez-Lopez E, et al. Clinical profile and outcome of cardiac amyloidosis in a Spanish referral center. Rev Española Cardiol. 2021;74(2):149-58. DOI:10.1016/j.rec.2019.12.020
51. Адян ТА., Поляков АВ. Наследственный транстиретиновый амилоидоз. Нервно-мышечные болезни. 2019;9(4):12-25 [Adyan TA, Polyakov AV. Hereditary transthyretin amyloidosis. Neuromuscular Diseases. 2019;9(4):12-25 (in Russian)]. DOI:10.17650/2222-8721-2019-9-4-12-25
52. Siddiqi OK, Ruberg FL. Cardiac Amyloidosis: An Update on Pathophysiology, Diagnosis, and Treatment HHS Public Access Introduction and Classification. Trends Cardiovasc Med. 2018;28(1):10-21. DOI:10.1016/j.tcm.2017.07.004
53. Adams D, Koike H, Slama M, Coelho T. Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease. Nat Rev Neurol. 2019;15(7):387-404. DOI:10.1038/s41582-019-0210-4
54. Rapezzi C, Quarta CC, Riva L, et al. Transthyretin-related amyloidoses and the heart: A clinical overview. Nat Rev Cardiol. 2010;7(7):398-408. DOI:10.1038/nrcardio.2010.67
55. Goyal A, Lahan S, Dalia T, et al. Clinical comparison of V122I genotypic variant of transthyretin amyloid cardiomyopathy with wild-type and other hereditary variants: a systematic review. Heart Fail Rev. 2021. DOI:10.1007/s10741-021-10098-6
56. Garcia-Pavia P, Bengel F, Brito D, et al. Expert consensus on the monitoring of transthyretin amyloid cardiomyopathy. Eur J Heart Fail. 2021;23(6):895-905. DOI:10.1002/ejhf.2198
57. Gertz MA, Comenzo R, Falk RH, et al. Definition of organ involvement and treatment response in immunoglobulin light chain amyloidosis (AL): A consensus opinion from the 10th International Symposium on Amyloid and Amyloidosis. Am J Hematol. 2005;79(4):319-28. DOI:10.1002/ajh.20381
58. Yamamoto H, Yokochi T. Transthyretin cardiac amyloidosis: an update on diagnosis and treatment. ESC Hear Fail. 2019;6(6):1128-39. DOI:10.1002/ehf2.12518
59. Damy T, Garcia-Pavia P, Hanna M, et al. Efficacy and safety of tafamidis doses in the Tafamidis in Transthyretin Cardiomyopathy Clinical Trial (ATTR-ACT) and long-term extension study. Eur J Heart Fail. 2021;23(2):277-85. DOI:10.1002/ejhf.2027
60. Cho Y, Baranczak A, Helmke S, et al. Personalized medicine approach for optimizing the dose of tafamidis to potentially ameliorate wild-type transthyretin amyloidosis (cardiomyopathy). Amyloid. 2015;22(3):175-80. DOI:10.3109/13506129.2015.1063485
61. Adams D, Algalarrondo V, Polydefkis M, et al. Expert opinion on monitoring symptomatic hereditary transthyretin-mediated amyloidosis and assessment of disease progression. Orphanet J Rare Dis. 2021;16(1):411. DOI:10.1186/s13023-021-01960-9
62. Chacko L, Martone R, Bandera F, et al. Echocardiographic phenotype and prognosis in transthyretin cardiac amyloidosis. Eur Heart J. 2020;41(14):1439-47a. DOI:10.1093/eurheartj/ehz905
63. Nitsche C, Aschauer S, Kammerlander AA, et al. Light-chain and transthyretin cardiac amyloidosis in severe aortic stenosis: prevalence, screening possibilities, and outcome. Eur J Heart Fail. 2020;22(10):1852‑62. DOI:10.1002/ejhf.1756
________________________________________________
2. 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):1554-68. DOI:10.1093/eurheartj/ehab072
3. Witteles RM, Bokhari S, Damy T, et al. Screening for Transthyretin Amyloid Cardiomyopathy in Everyday Practice. JACC Hear Fail. 2019;7(8):709-16. DOI:10.1016/j.jchf.2019.04.010
4. Wechalekar AD, Gillmore JD, Hawkins PN. Systemic amyloidosis. Lancet. 2016;387(10038):2641-54. DOI:10.1016/S0140-6736(15)01274-X
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Авторы
С.Н. Терещенко1,2, И.В. Жиров*1,2, О.М. Моисеева3,4, Т.В. Адашева5, А.А. Аншелес1, О.Л. Барбараш6,7, А.С. Галявич8, А.Я. Гудкова3,4, Д.А. Затейщиков9,10, А.А. Костарева3, С.Н. Насонова1, С.В. Недогода11, Т.Б. Печерина6, Д.В. Рыжкова3, В.Б. Сергиенко1
1 ФГБУ «Национальный медицинский исследовательский центр кардиологии им. акад. Е.И. Чазова» Минздрава России, Москва, Россия;
2 ФГБОУ ДПО «Российская медицинская академия непрерывного профессионального образования» Минздрава России, Москва, Россия;
3 ФГБУ «Национальный медицинский исследовательский центр им. В.А. Алмазова» Минздрава России, Санкт-Петербург, Россия;
4 ФГБОУ ВО «Первый Санкт-Петербургский государственный медицинский университет им. акад. И.П. Павлова» Минздрава России, Санкт-Петербург, Россия;
5 ФГБОУ ВО «Московский государственный медико-стоматологический университет им. А.И. Евдокимова» Минздрава России, Москва, Россия;
6 ФГБНУ «Научно-исследовательский институт комплексных проблем сердечно-сосудистых заболеваний», Кемерово, Россия;
7 ФГБОУ ВО «Кемеровский государственный медицинский университет» Минздрава России, Кемерово, Россия;
8 ФГБОУ ВО «Казанский государственный медицинский университет» Минздрава России, Казань, Россия;
9 ГБУЗ «Городская клиническая больница №51» Департамента здравоохранения г. Москвы, Москва, Россия;
10 ФГБУ ДПО «Центральная государственная медицинская академия» Управления делами Президента РФ, Москва, Россия;
11 ФГБОУ ВО «Волгоградский государственный медицинский университет» Минздрава России, Волгоград, Россия
*izhirov@mail.ru
1 Chazov National Medical Research Center of Cardiology, Moscow, Russia;
2 Russian Medical Academy of Continuous Professional Education, Moscow, Russia;
3 Almazov National Medical Research Centre, Saint Petersburg, Russia;
4 Pavlov First Saint Petersburg State Medical University, Saint Petersburg, Russia;
5 Yevdokimov Moscow State University of Medicine and Dentistry, Moscow, Russia;
6 Research Institute of Complex Problems of Cardiovascular Diseases, Kemerovo, Russia;
7 Kemerovo State Medical University, Kemerovo, Russia;
8 Kazan State Medical University, Kazan, Russia;
9 City Clinical Hospital №51, Moscow, Russia;
10 Central State Medical Academy of the President of the Russian Federation, Moscow, Russia;
11 Volgograd State Medical University, Volgograd, Russia
*izhirov@mail.ru
1 ФГБУ «Национальный медицинский исследовательский центр кардиологии им. акад. Е.И. Чазова» Минздрава России, Москва, Россия;
2 ФГБОУ ДПО «Российская медицинская академия непрерывного профессионального образования» Минздрава России, Москва, Россия;
3 ФГБУ «Национальный медицинский исследовательский центр им. В.А. Алмазова» Минздрава России, Санкт-Петербург, Россия;
4 ФГБОУ ВО «Первый Санкт-Петербургский государственный медицинский университет им. акад. И.П. Павлова» Минздрава России, Санкт-Петербург, Россия;
5 ФГБОУ ВО «Московский государственный медико-стоматологический университет им. А.И. Евдокимова» Минздрава России, Москва, Россия;
6 ФГБНУ «Научно-исследовательский институт комплексных проблем сердечно-сосудистых заболеваний», Кемерово, Россия;
7 ФГБОУ ВО «Кемеровский государственный медицинский университет» Минздрава России, Кемерово, Россия;
8 ФГБОУ ВО «Казанский государственный медицинский университет» Минздрава России, Казань, Россия;
9 ГБУЗ «Городская клиническая больница №51» Департамента здравоохранения г. Москвы, Москва, Россия;
10 ФГБУ ДПО «Центральная государственная медицинская академия» Управления делами Президента РФ, Москва, Россия;
11 ФГБОУ ВО «Волгоградский государственный медицинский университет» Минздрава России, Волгоград, Россия
*izhirov@mail.ru
________________________________________________
1 Chazov National Medical Research Center of Cardiology, Moscow, Russia;
2 Russian Medical Academy of Continuous Professional Education, Moscow, Russia;
3 Almazov National Medical Research Centre, Saint Petersburg, Russia;
4 Pavlov First Saint Petersburg State Medical University, Saint Petersburg, Russia;
5 Yevdokimov Moscow State University of Medicine and Dentistry, Moscow, Russia;
6 Research Institute of Complex Problems of Cardiovascular Diseases, Kemerovo, Russia;
7 Kemerovo State Medical University, Kemerovo, Russia;
8 Kazan State Medical University, Kazan, Russia;
9 City Clinical Hospital №51, Moscow, Russia;
10 Central State Medical Academy of the President of the Russian Federation, Moscow, Russia;
11 Volgograd State Medical University, Volgograd, Russia
*izhirov@mail.ru
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