Диагностика амилоидоза сердца с применением современных ультразвуковых технологий

Амилоидоз является системным заболеванием, которое обусловлено отложением нерастворимых белковых фибрилл. При амилоидном поражении сердца развивается тяжелая сердечная недостаточность, зачастую рефрактерная к терапии. При этом степень тяжести сердечной недостаточности не соответствует степени снижения систолической функции левого желудочка, так как в большей степени нарушается диастолическая функция. В настоящее время существуют схемы лечения данного заболевания, поэтому важна его диагностика на ранней стадии. “Золотым стандартом” диагностики кардиального амилоидоза является биопсия миокарда. Однако на современном этапе весомое значение имеют и неинвазивные методы.

Цель работы: обзор признаков амилоидоза сердца, выявляемых с помощью эхокардиографии, в том числе с применением современных ультразвуковых технологий, позволяющих заподозрить амилоидное поражение сердца и инициировать дальнейшее дообследование.

1. Donnelly J.P., Hanna M. Cardiac amyloidosis: An update on diagnosis and treatment. Cleve Clin. J. Med. 2017; 84 (12, Suppl. 3):12–26. http://doi.org/10.3949/ccjm.84.s3.02

2. Siddiqi O.K., Ruberg F.L. Cardiac amyloidosis: An update on pathophysiology, diagnosis, and treatment. Trends Cardiovasc. Med. 2018; 28 (1): 10–21. http://doi.org/10.1016/j.tcm.2017.07.004

3. Резник Е.В., Нгуен Т.Л., Степанова Е.А., Устюжанин Д.В., Никитин И.Г. Амилоидоз сердца: взгляд терапевта и кардиолога. Архивъ внутренней медицины. 2020; 10 (6): 430–457. https:// doi.org/10.20514/2226-6704-2020-10-6-430-457

4. Терещенко С.Н., Жиров И.В., Моисеева О.М., Адашева Т.В., Аншелес А.А., Барбараш О.Л., Галявич А.С., Гудкова А.И., Затейщиков Д.А., Костарева А.А., Насонова С.Н., Недогода С.В., Печерина Т.Б., Рыжкова Д.В., Сергиенко В.Б. Практическое руководство по диагностике и лечению транстиретин-амилоидной кардиомиопатии (ATTR-CM или транстиретин-кардиальный амилоидоз). Терапевтический архив. 2022; 94 (4): 584–595. http://doi.org/10.26442/00403660.2022.04.201465

5. Pinney J.H., Smith C.J., Taube J.B., Lachmann H.J., Venner C.P., Gibbs S.D., Dungu J., Banypersad S.M., Wechalekar A.D., Whelan C.J., Hawkins P.N., Gillmore J.D. Systemic amyloidosis in England: an epidemiological study. Br. J. Haematol. 2013; 161 (4): 525–532. http://doi.org/10.1111/bjh.12286

6. Tanskanen M., Peuralinna T., Polvikoski T., Notkola I.L., Sulkava R., Hardy J., Singleton A., Kiuru-Enari S., Paetau A., Tienari P.J., Myllykangas L. Senile systemic amyloidosis affects 25% of the very aged and associates with genetic variation in alpha2-macroglobulin and tau: a populationbased autopsy study. Ann. Med. 2008; 40 (3): 232– 239. http://doi.org/10.1080/07853890701842988

7. Narotsky D.L., Castano A., Weinsaft J.W., Bokhari S., Maurer M.S. Wild-Type Transthyretin Cardiac Amyloidosis: Novel Insights From Advanced Imaging. Can. J. Cardiol. 2016; 32 (9): 1166. e1–1166.e10. http://doi.org/10.1016/j.cjca.2016.05.008

8. Kyle R.A., Linos A., Beard C.M., Linke R.P., Gertz M.A., O'Fallon W.M., Kurland L.T. Incidence and natural history of primary systemic amyloidosis in Olmsted County, Minnesota, 1950 through 1989. Blood. 1992; 79 (7): 1817–1822. PMID: 1558973

9. Nitsche C., Aschauer S., Kammerlander A.A., Schneider M., Poschner T., Duca F., Binder C., Koschutnik M., Stiftinger J., Goliasch G., SillerMatula J., Winter M.P., Anvari-Pirsch A., Andreas M., Geppert A., Beitzke D., Loewe C., Hacker M., Agis H., Kain R., Lang I., Bonderman D., Hengstenberg C., Mascherbauer J. Light-chain and transthyretin cardiac amyloidosis in severe aortic stenosis: prevalence, screening possibilities, and outcome. Eur. J. Heart Fail. 2020; 22 (10): 1852– 1862. http://doi.org/10.1002/ejhf.1756

10. Nitsche C., Scully P.R., Patel K.P., Kammerlander A.A., Koschutnik M., Dona C., Wollenweber T., Ahmed N., Thornton G.D., Kelion A.D., Sabharwal N., Newton J.D., Ozkor M., Kennon S., Mullen M., Lloyd G., Fontana M., Hawkins P.N., Pugliese F., Menezes L.J., Moon J.C., Mascherbauer J., Treibel T.A. Prevalence and Outcomes of Concomitant Aortic Stenosis and Cardiac Amyloidosis. J. Am. Coll. Cardiol. 2021; 77 (2): 128–139. http://doi.org/10.1016/j.jacc.2020.11.006

11. Chew C., Ziady G.M., Raphael M.J., Oakley C.M. The functional defect in amyloid heart disease. The “stiff heart” syndrome. Am. J. Cardiol. 1975; 36 (4): 438–444. http://doi.org/10.1016/0002-9149(75)90891-7

12. Child J.S., Levisman J.A., Abbasi A.S., MacAlpin R.N. Echocardiographic manifestations of infiltrative cardiomyopathy. A report of seven cases due to amyloid. Chest. 1976; 70 (6): 726–731. http://doi.org/10.1378/chest.70.6.726

13. Ardehali H., Qasim A., Cappola T., Howard D., Hruban R., Hare J.M., Baughman K.L., Kasper E.K. Endomyocardial biopsy plays a role in diagnosing patients with unexplained cardiomyopathy. Am. Heart J. 2004; 147 (5): 919–923. http://doi.org/10.1016/j.ahj.2003.09.020

14. From A.M., Maleszewski J.J., Rihal C.S. Current status of endomyocardial biopsy. Mayo Clin. Proc. 2011; 86 (11): 1095–1102. http://doi.org/10.4065/mcp.2011.0296

15. Gertz M.A., Comenzo R., Falk R.H., Fermand J.P., Hazenberg B.P., Hawkins P.N., Merlini G., Moreau P., Ronco P., Sanchorawala V., Sezer O., Solomon A., Grateau G. Definition of organ involvement and treatment response in immunoglobulin light chain amyloidosis (AL): a consensus opinion from the 10 th International Symposium on Amyloid and Amyloidosis, Tours, France, 18–22 April 2004. Am. J. Hematol. 2005; 79 (4): 319–328. http://doi.org/10.1002/ajh.20381

16. Siqueira-Filho A.G., Cunha C.L., Tajik A.J., Seward J.B., Schattenberg T.T., Giuliani E.R. M-mode and two-dimensional echocardiographic features in cardiac amyloidosis. Circulation. 1981; 63 (1): 188–196. http://doi.org/10.1161/01.cir.63.1.188

17. Child J.S., Krivokapich J., Abbasi A.S. Increased right ventricular wall thickness on echocardiography in amyloid infiltrative cardiomyopathy. Am. J. Cardiol. 1979; 44 (7): 1391–1395. http://doi.org/10.1016/0002-9149(79)90458-2

18. Dubrey S., Pollak A., Skinner M., Falk R.H. Atrial thrombi occurring during sinus rhythm in cardiac amyloidosis: evidence for atrial electromechanical dissociation. Br. Heart J. 1995; 74 (5): 541–544. http://doi.org/10.1136/hrt.74.5.541

19. Klein A.L., Hatle L.K., Burstow D.J., Seward J.B., Kyle R.A., Bailey K.R., Luscher T.F., Gertz M.A., Tajik A.J. Doppler characterization of left ventricular diastolic function in cardiac amyloidosis. J. Am. Coll. Cardiol. 1989; 13 (5): 1017–1026. http://doi.org/10.1016/0735-1097(89)90254-4

20. Dorbala S., Ando Y., Bokhari S., Dispenzieri A., Falk R.H., Ferrari V.A., Fontana M., Gheysens O., Gillmore J.D., Glaudemans A.W.J.M., Hanna M.A., Hazenberg B.P.C., Kristen A.V., Kwong R.Y., Maurer M.S., Merlini G., Miller E.J., Moon J.C., Murthy V.L., Quarta C.C., Rapezzi C., Ruberg F.L., Shah S.J., Slart R.H.J.A., Verberne H.J., Bourque J.M. 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. Card. Fail. 2019; 25 (11): 854–865. http://doi.org/10.1016/j.cardfail.2019.08.002

21. Longhi S., Quarta C.C., Milandri A., Lorenzini M., Gagliardi C., Manuzzi L., Bacchi-Reggiani M.L., Leone O., Ferlini A., Russo A., Gallelli I., Rapezzi C. Atrial fibrillation in amyloidotic cardiomyopathy: prevalence, incidence, risk factors and prognostic role. Amyloid. 2015; 22 (3): 147–155. http://doi.org/10.3109/13506129.2015.1028616

22. Dorbala S., Ando Y., Bokhari S., Dispenzieri A., Falk R.H., Ferrari V.A., Fontana M., Gheysens O., Gillmore J.D., Glaudemans A.W.J.M., Hanna M.A., Hazenberg B.P.C., Kristen A.V., Kwong R.Y., Maurer M.S., Merlini G., Miller E.J., Moon J.C., Murthy V.L., Quarta C.C., Rapezzi C., Ruberg F.L., Shah S.J., Slart R.H.J.A., Verberne H.J., Bourque J.M. 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– 2123. http://doi.org/10.1007/s12350-019-01760-6. Erratum in: J. Nucl. Cardiol. 2021; 28 (4): 1761–1762.

23. Bellavia D., Abraham T.P., Pellikka P.A., Al-Zahrani G.B., Dispenzieri A., Oh J.K., Bailey K.R., Wood C.M., Novo S., Miyazaki C., Miller F.A. Jr. Detection of left ventricular systolic dysfunction in cardiac amyloidosis with strain rate echocardiography. J. Am. Soc. Echocardiogr. 2007; 20 (10): 1194–1202. http://doi.org/10.1016/j.echo.2007.02.025

24. Modesto K.M., Cauduro S., Dispenzieri A., Khandheria B., Belohlavek M., Lysyansky P., Friedman Z., Gertz M., Abraham T.P. Twodimensional acoustic pattern derived strain parameters closely correlate with one-dimensional tissue Doppler derived strain measurements. Eur. J. Echocardiogr. 2006; 7 (4): 315–321. http://doi.org/10.1016/j.euje.2005.07.003

25. Sun J.P., Stewart W.J., Yang X.S., Donnell R.O., Leon A.R., Felner J.M., Thomas J.D., Merlino J.D. Differentiation of hypertrophic cardiomyopathy and cardiac amyloidosis from other causes of ventricular wall thickening by two-dimensional strain imaging echocardiography. Am. J. Cardiol. 2009; 103 (3): 411–415. http://doi.org/10.1016/j.amjcard.2008.09.102

26. Di Bella G., Minutoli F., Pingitore A., Zito C., Mazzeo A., Aquaro G.D., Di Leo R., Recupero A., Stancanelli C., Baldari S., Vita G., Carerj S. Endocardial and epicardial deformations in cardiac amyloidosis and hypertrophic cardiomyopathy. Circ. J. 2011; 75 (5): 1200–1208. http://doi.org/10.1253/circj.cj-10-0844

27. Kusunose K., Yamada H., Iwase T., Nishio S., Tomita N., Niki T., Yamaguchi K., Koshiba K., Taketani Y., Soeki T., Wakatsuki T., Akaike M., Shoichiro T., Harada M., Kagawa N., Kudo E., Sata M. Images in cardiovascular medicine. Cardiac magnetic resonance imaging and 2-dimensional speckle tracking echocardiography in secondary cardiac amyloidosis. Circ. J. 2010; 74 (7): 1494– 1496. http://doi.org/10.1253/circj. cj-10-0141

28. Phelan D., Collier P., Thavendiranathan P., Popović Z.B., Hanna M., Plana J.C., Marwick T.H., Thomas J.D. Relative apical sparing of longitudinal strain using two-dimensional speckle-tracking echocardiography is both sensitive and specific for the diagnosis of cardiac amyloidosis. Heart. 2012; 98 (19): 1442–1448. http://doi.org/10.1136/heartjnl-2012-302353

29. Liu D., Hu K., Niemann M., Herrmann S., Cikes M., Störk S., Gaudron P.D., Knop S., Ertl G., Bijnens B., Weidemann F. Effect of combined systolic and diastolic functional parameter assessment for differentiation of cardiac amyloidosis from other causes of concentric left ventricular hypertrophy. Circ. Cardiovasc. Imaging. 2013; 6 (6): 1066–1072. http://doi.org/10.1161/CIRCIMAGING.113. 000683

30. Boldrini M., Cappelli F., Chacko L., RestrepoCordoba M.A., Lopez-Sainz A., Giannoni A., Aimo A., Baggiano A., Martinez-Naharro A., Whelan C., Quarta C., Passino C., Castiglione V., Chubuchnyi V., Spini V., Taddei C., Vergaro G., Petrie A., Ruiz-Guerrero L., Moñivas V., MingoSantos S., Mirelis J.G., Dominguez F., GonzalezLopez E., Perlini S., Pontone G., Gillmore J., Hawkins P.N., Garcia-Pavia P., Emdin M., Fontana M. Multiparametric Echocardiography Scores for the Diagnosis of Cardiac Amyloidosis. JACC Cardiovasc. Imaging. 2020; 13 (4): 909–920. http://doi.org/10.1016/j.jcmg.2019.10.011

31. Garcia-Pavia P., Rapezzi C., Adler Y., Arad M., Basso C., Brucato A., Burazor I., Caforio A.L.P., Damy T., Eriksson U., Fontana M., Gillmore J.D., Gonzalez-Lopez E., Grogan M., Heymans S., Imazio M., Kindermann I., Kristen A.V., Maurer M.S., Merlini G., Pantazis A., Pankuweit S., Rigopoulos A.G., Linhart A. Diagnosis and treatment of cardiac amyloidosis. A position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur. J. Heart Fail. 2021; 23 (4): 512–526. http://doi.org/10.1002/ejhf.2140

32. Moody W.E., Turvey-Haigh L., Knight D., Coats C.J., Cooper R.M., Schofield R., Robinson S., Harkness A., Oxborough D.L., Gillmore J.D., Whelan C., Augustine D.X., Fontana M., Steeds R.P. British Society of Echocardiography guideline for the transthoracic echocardiographic assessment of cardiac amyloidosis. Echo. Res. Pract. 2023; 10 (1): 13. http://doi.org/10.1186/s44156-023-00028-7

33. Pagourelias E.D., Duchenne J., Mirea O., Vovas G., Van Cleemput J., Delforge M., Kuznetsova T., Bogaert J., Voigt J.U. The Relation of Ejection Fraction and Global Longitudinal Strain in Amyloidosis: Implications for Differential Diagnosis. JACC Cardiovasc. Imaging. 2016; 9 (11): 1358–1359. http://doi.org/10.1016/j.jcmg.2015.11.013

34. Pagourelias E.D., Mirea O., Duchenne J., Van Cleemput J., Delforge M., Bogaert J., Kuznetsova T., Voigt J.U.. Echo Parameters for Differential Diagnosis in Cardiac Amyloidosis: A Head-to-Head Comparison of Deformation and Nondeformation Parameters. Circ. Cardiovasc. Imaging. 2017; 10 (3): e005588. http://doi.org/10.1161/CIRCIMAGING.116.005588

35. Nochioka K., Quarta C.C., Claggett B., Roca G.Q., Rapezzi C., Falk R.H., Solomon S.D. Left atrial structure and function in cardiac amyloidosis. Eur. Heart J. Cardiovasc. Imaging. 2017; 18 (10): 1128– 1137. http://doi.org/10.1093/ehjci/jex097

36. Thomas L., Marwick T.H., Popescu B.A., Donal E., Badano L.P. Left Atrial Structure and Function, and Left Ventricular Diastolic Dysfunction: JACC State-of-the-Art Review. J. Am. Coll. Cardiol. 2019; 73 (15): 1961–1977. http://doi.org/10.1016/j.jacc.2019.01.059

37. Nucifora G., Muser D., Morocutti G., Piccoli G., Zanuttini D., Gianfagna P., Proclemer A. Diseasespecific differences of left ventricular rotational mechanics between cardiac amyloidosis and hypertrophic cardiomyopathy. Am. J. Physiol. Heart. Circ. Physiol. 2014; 307 (5): H680–688. http://doi.org/10.1152/ajpheart.00251.2014

38. Nemes A., Földeák D., Domsik P., Kalapos A., Sepp R., Borbényi Z., Forster T. Different patterns of left ventricular rotational mechanics in cardiac amyloidosis-results from the three-dimensional speckle-tracking echocardiographic MAGYAR-Path Study. Quant. Imaging Med. Surg. 2015; 5 (6): 853–857. http://doi.org/10.3978/j.issn.2223-4292.2015.11.07

39. Van Dalen B.M., Caliskan K., Soliman O.I., Nemes A., Vletter W.B., Ten Cate F.J., Geleijnse M.L. Left ventricular solid body rotation in non-compaction cardiomyopathy: a potential new objective and quantitative functional diagnostic criterion? Eur. J. Heart Fail. 2008; 10 (11): 1088–1093. http://doi.org/10.1016/j.ejheart.2008.08.006

40. Sengupta P.P., Khandheria B.K., Narula J. Twist and untwist mechanics of the left ventricle. Heart Fail. Clin. 2008; 4 (3): 315–324. http://doi.org/10.1016/j.hfc.2008.03.001

41. Vitarelli A., Lai S., Petrucci M.T., Gaudio C., Capotosto L., Mangieri E., Ricci S., Germanò G., De Sio S., Truscelli G., Vozella F., Pergolini M.S., Giordano M. Biventricular assessment of lightchain amyloidosis using 3D speckle tracking echocardiography: Differentiation from other forms of myocardial hypertrophy. Int. J. Cardiol. 2018; 271: 371–377. http://doi.org/10.1016/j.ijcard. 2018.03.088

42. Geenty P., Sivapathan S., Stefani L.D., Zada M., Boyd A., Richards D., Kwok F., Thomas L. A novel echocardiographic risk score for light-chain amyloidosis. Eur. Heart J. Open. 2023; 3 (3): oead040. http://doi.org/10.1093/ehjopen/oead040