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Echocardiographic assessment of cardiac amyloidosis

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Abstract

Cardiac amyloidosis, a form of infiltrative cardiomyopathy, is associated with poor prognosis in untreated patients. Early diagnosis is important for timely initiation of effective therapies. Despite advances in diagnostic modalities, it remains a challenging diagnosis, requiring high index of clinical suspicion. Echocardiography represents the first-line cardiac imaging modality for evaluation of heart failure and suspected cardiac amyloidosis. In this review, we discuss echocardiographic findings in cardiac amyloidosis.

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Abbreviations

EFSR:

Ratio of left ventricular ejection fraction to global longitudinal strain

LV:

Left ventricle

RV:

Right ventricle

TDI:

Tissue Doppler imaging

ST:

Speckle tracking

References

  1. Sipe JD, Benson MD, Buxbaum JN et al (2014) Nomenclature 2014: amyloid fibril proteins and clinical classification of the amyloidosis. Amyloid 21(4):221–224. https://doi.org/10.3109/13506129.2014.964858

    Article  PubMed  Google Scholar 

  2. Smith TJ, Kyle RA, Lie JT (1984) Clinical significance of histopathologic patterns of cardiac amyloidosis. Mayo Clin Proc 59(8):547–555. https://doi.org/10.1016/s0025-6196(12)61493-1

    Article  CAS  PubMed  Google Scholar 

  3. Ladefoged B, Dybro A, Povlsen JA, Vase H, Clemmensen TS, Poulsen SH (2020) Diagnostic delay in wild type transthyretin cardiac amyloidosis - a clinical challenge. Int J Cardiol 304:138–143. https://doi.org/10.1016/j.ijcard.2019.12.063

    Article  PubMed  Google Scholar 

  4. Adams D, Gonzalez-Duarte A, O’Riordan WD et al (2018) Patisiran, an RNAi therapeutic, for hereditary transthyretin amyloidosis. N Engl J Med 379(1):11–21. https://doi.org/10.1056/NEJMoa1716153

    Article  CAS  PubMed  Google Scholar 

  5. Benson MD, Waddington-Cruz M, Berk JL et al (2018) Inotersen treatment for patients with hereditary transthyretin amyloidosis. N Engl J Med 379(1):22–31. https://doi.org/10.1056/NEJMoa1716793

    Article  CAS  PubMed  Google Scholar 

  6. Maurer MS, Schwartz JH, Gundapaneni B et al (2018) Tafamidis treatment for patients with transthyretin amyloid cardiomyopathy. N Engl J Med 379(11):1007–1016. https://doi.org/10.1056/NEJMoa1805689

    Article  CAS  PubMed  Google Scholar 

  7. Sanchorawala V, Wright DG, Seldin DC et al (2004) High-dose intravenous melphalan and autologous stem cell transplantation as initial therapy or following two cycles of oral chemotherapy for the treatment of AL amyloidosis: results of a prospective randomized trial. Bone Marrow Transplant 33(4):381–388. https://doi.org/10.1038/sj.bmt.1704346

    Article  CAS  PubMed  Google Scholar 

  8. Kyle RA, Linos A, Beard CM et al (1992) Incidence and natural history of primary systemic amyloidosis in Olmsted County, Minnesota, 1950 through 1989. Blood 79(7):1817–1822

    Article  CAS  Google Scholar 

  9. Dubrey SW, Cha K, Anderson J et al (1998) The clinical features of immunoglobulin light-chain (AL) amyloidosis with heart involvement. QJM 91(2):141–157. https://doi.org/10.1093/qjmed/91.2.141

    Article  CAS  PubMed  Google Scholar 

  10. Kyle RA, Gertz MA (1995) Primary systemic amyloidosis: clinical and laboratory features in 474 cases. Semin Hematol 32(1):45–59

    CAS  PubMed  Google Scholar 

  11. González-López E, Gallego-Delgado M, Guzzo-Merello G et al (2015) Wild-type transthyretin amyloidosis as a cause of heart failure with preserved ejection fraction. Eur Heart J 36(38):2585–2594. https://doi.org/10.1093/eurheartj/ehv338

    Article  CAS  PubMed  Google Scholar 

  12. Castaño A, Narotsky DL, Hamid N et al (2017) Unveiling transthyretin cardiac amyloidosis and its predictors among elderly patients with severe aortic stenosis undergoing transcatheter aortic valve replacement. Eur Heart J 38(38):2879–2887. https://doi.org/10.1093/eurheartj/ehx350

    Article  PubMed  PubMed Central  Google Scholar 

  13. Ihse E, Ybo A, Suhr O, Lindqvist P, Backman C, Westermark P (2008) Amyloid fibril composition is related to the phenotype of hereditary transthyretin V30M amyloidosis. J Pathol 216(2):253–261. https://doi.org/10.1002/path.2411

    Article  CAS  PubMed  Google Scholar 

  14. Ng B, Connors LH, Davidoff R, Skinner M, Falk RH (2005) Senile systemic amyloidosis presenting with heart failure: a comparison with light chain-associated amyloidosis. Arch Intern Med 165(12):1425–1429. https://doi.org/10.1001/archinte.165.12.1425

    Article  PubMed  Google Scholar 

  15. Pellikka PA, Holmes DR Jr, Edwards WD, Nishimura RA, Tajik AJ, Kyle RA (1988) Endomyocardial biopsy in 30 patients with primary amyloidosis and suspected cardiac involvement. Arch Intern Med 148(3):662–666

    Article  CAS  Google Scholar 

  16. Deckers JW, Hare JM, Baughman KL (1992) Complications of transvenous right ventricular endomyocardial biopsy in adult patients with cardiomyopathy: a seven-year survey of 546 consecutive diagnostic procedures in a tertiary referral center. J Am Coll Cardiol 19(1):43–47. https://doi.org/10.1016/0735-1097(92)90049-s

    Article  CAS  PubMed  Google Scholar 

  17. Roberts WC, Waller BF (1983) Cardiac amyloidosis causing cardiac dysfunction: analysis of 54 necropsy patients. Am J Cardiol 52(1):137–146. https://doi.org/10.1016/0002-9149(83)90084-x

    Article  CAS  PubMed  Google Scholar 

  18. Brenner DA, Jain M, Pimentel DR et al (2004) Human amyloidogenic light chains directly impair cardiomyocyte function through an increase in cellular oxidant stress. Circ Res 94(8):1008–1010. https://doi.org/10.1161/01.res.0000126569.75419.74

    Article  CAS  PubMed  Google Scholar 

  19. Buja LM, Khoi NB, Roberts WC (1970) Clinically significant cardiac amyloidosis. Clinicopathologic findings in 15 patients. Am J Cardiol 26(4):394–405. https://doi.org/10.1016/0002-9149(70)90736-8

  20. Feng D, Edwards WD, Oh JK et al (2007) Intracardiac thrombosis and embolism in patients with cardiac amyloidosis. Circulation 116(21):2420–2426. https://doi.org/10.1161/circulationaha.107.697763

    Article  PubMed  Google Scholar 

  21. Plehn JF, Southworth J, Cornwell GG 3rd (1992) Brief report: atrial systolic failure in primary amyloidosis. N Engl J Med 327(22):1570–1573. https://doi.org/10.1056/nejm199211263272205

    Article  CAS  PubMed  Google Scholar 

  22. Gertz MA, Comenzo R, Falk RH et al (2005) 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, Tours, France, 18–22 April 2004. Am J Hematol 79(4):319–328. https://doi.org/10.1002/ajh.20381

    Article  PubMed  Google Scholar 

  23. Cueto-Garcia L, Reeder GS, Kyle RA et al (1985) Echocardiographic findings in systemic amyloidosis: spectrum of cardiac involvement and relation to survival. J Am Coll Cardiol 6(4):737–743. https://doi.org/10.1016/s0735-1097(85)80475-7

    Article  CAS  PubMed  Google Scholar 

  24. Lang RM, Badano LP, Mor-Avi V et al (2015) Recommendations for cardiac chamber quantification by echocardiography in adults: an update from the American Society of Echocardiography and the European Association of Cardiovascular Imaging. J Am Soc Echocardiogr 28(1):1-39.e14. https://doi.org/10.1016/j.echo.2014.10.003

    Article  PubMed  Google Scholar 

  25. Dinwoodey DL, Skinner M, Maron MS, Davidoff R, Ruberg FL (2008) Light-chain amyloidosis with echocardiographic features of hypertrophic cardiomyopathy. Am J Cardiol 101(5):674–676. https://doi.org/10.1016/j.amjcard.2007.10.031

    Article  PubMed  Google Scholar 

  26. Sedlis SP, Saffitz JE, Schwob VS, Jaffe AS (1984) Cardiac amyloidosis simulating hypertrophic cardiomyopathy. Am J Cardiol 53(7):969–970. https://doi.org/10.1016/0002-9149(84)90543-5

    Article  CAS  PubMed  Google Scholar 

  27. Falk RH, Plehn JF, Deering T et al (1987) Sensitivity and specificity of the echocardiographic features of cardiac amyloidosis. Am J Cardiol 59(5):418–422. https://doi.org/10.1016/0002-9149(87)90948-9

    Article  CAS  PubMed  Google Scholar 

  28. Bhandari AK, Nanda NC (1983) Myocardial texture characterization by two-dimensional echocardiography. Am J Cardiol 51(5):817–825. https://doi.org/10.1016/s0002-9149(83)80139-8

    Article  CAS  PubMed  Google Scholar 

  29. Dorbala S, Ando Y, Bokhari S et al (2019) 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 2065–2123 vol 6

  30. Carroll JD, Gaasch WH, McAdam KP (1982) Amyloid cardiomyopathy: characterization by a distinctive voltage/mass relation. Am J Cardiol 49(1):9–13. https://doi.org/10.1016/0002-9149(82)90270-3

    Article  CAS  PubMed  Google Scholar 

  31. Siqueira-Filho AG, Cunha CL, Tajik AJ, Seward JB, Schattenberg TT, Giuliani ER (1981) M-mode and two-dimensional echocardiographic features in cardiac amyloidosis. Circulation 63(1):188–196. https://doi.org/10.1161/01.cir.63.1.188

    Article  CAS  PubMed  Google Scholar 

  32. Quarta CC, Solomon SD, Uraizee I et al (2014) Left ventricular structure and function in transthyretin-related versus light-chain cardiac amyloidosis. Circulation 129(18):1840–1849. https://doi.org/10.1161/circulationaha.113.006242

    Article  PubMed  Google Scholar 

  33. Patel AR, Dubrey SW, Mendes LA et al (1997) Right ventricular dilation in primary amyloidosis: an independent predictor of survival. Am J Cardiol 80(4):486–492. https://doi.org/10.1016/s0002-9149(97)00400-1

    Article  CAS  PubMed  Google Scholar 

  34. Fitzgerald BT, Scalia GM, Cain PA, Garcia MJ, Thomas JD (2011) Left atrial size–another differentiator for cardiac amyloidosis. Heart Lung Circ 20(9):574–578. https://doi.org/10.1016/j.hlc.2011.06.002

    Article  PubMed  Google Scholar 

  35. Scully PR, Patel KP, Treibel TA et al (2020) Prevalence and outcome of dual aortic stenosis and cardiac amyloid pathology in patients referred for transcatheter aortic valve implantation. Eur Heart J 41(29):2759–2767. https://doi.org/10.1093/eurheartj/ehaa170

    Article  PubMed  PubMed Central  Google Scholar 

  36. Treibel TA, Fontana M, Gilbertson JA et al (2016) Occult transthyretin cardiac amyloid in severe calcific aortic stenosis: prevalence and prognosis in patients undergoing surgical aortic valve replacement. Circ Cardiovasc Imaging 9(8). https://doi.org/10.1161/circimaging.116.005066

  37. Nitsche C, Scully PR, Patel KP et al (2021) Prevalence and outcomes of concomitant aortic stenosis and cardiac amyloidosis. J Am Coll Cardiol 77(2):128–139. https://doi.org/10.1016/j.jacc.2020.11.006

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  38. Binder C, Duca F, Binder T et al (2021) Prognostic implications of pericardial and pleural effusion in patients with cardiac amyloidosis. Clin Res Cardiol 110(4):532–543. https://doi.org/10.1007/s00392-020-01698-7

    Article  CAS  PubMed  Google Scholar 

  39. Klein AL, Hatle LK, Burstow DJ et al (1989) Doppler characterization of left ventricular diastolic function in cardiac amyloidosis. J Am Coll Cardiol 13(5):1017–1026. https://doi.org/10.1016/0735-1097(89)90254-4

    Article  CAS  PubMed  Google Scholar 

  40. Nagueh SF, Smiseth OA, Appleton CP et al (2016) Recommendations for the evaluation of left ventricular diastolic function by echocardiography: an update from the american Society of Echocardiography and the European Association of Cardiovascular Imaging. J Am Soc Echocardiogr 29(4):277–314. https://doi.org/10.1016/j.echo.2016.01.011

    Article  PubMed  Google Scholar 

  41. Klein AL, Hatle LK, Burstow DJ et al (1990) Comprehensive doppler assessment of right ventricular diastolic function in cardiac amyloidosis. J Am Coll Cardiol 15(1):99–108. https://doi.org/10.1016/0735-1097(90)90183-p

    Article  CAS  PubMed  Google Scholar 

  42. Mohty D, Pibarot P, Dumesnil JG et al (2011) Left atrial size is an independent predictor of overall survival in patients with primary systemic amyloidosis. Arch Cardiovasc Dis 104(12):611–618. https://doi.org/10.1016/j.acvd.2011.10.004

    Article  PubMed  Google Scholar 

  43. Nochioka K, Quarta CC, Claggett B et al (2017) Left atrial structure and function in cardiac amyloidosis. Eur Heart J Cardiovasc Imaging 18(10):1128–1137. https://doi.org/10.1093/ehjci/jex097

    Article  PubMed  Google Scholar 

  44. Knight DS, Zumbo G, Barcella W et al (2019) Cardiac structural and functional consequences of amyloid deposition by cardiac magnetic resonance and echocardiography and their prognostic roles. JACC Cardiovasc Imaging 12(5):823–833. https://doi.org/10.1016/j.jcmg.2018.02.016

    Article  PubMed  Google Scholar 

  45. Tendler A, Helmke S, Teruya S, Alvarez J, Maurer MS (2015) The myocardial contraction fraction is superior to ejection fraction in predicting survival in patients with AL cardiac amyloidosis. Amyloid 22(1):61–66. https://doi.org/10.3109/13506129.2014.994202

    Article  CAS  PubMed  Google Scholar 

  46. Pagourelias ED, Mirea O, Duchenne J et al (2017) Echo parameters for differential diagnosis in cardiac amyloidosis: a head-to-head comparison of deformation and nondeformation parameters. Circ Cardiovasc Imaging 10(3):e005588. https://doi.org/10.1161/circimaging.116.005588

    Article  PubMed  Google Scholar 

  47. Milani P, Dispenzieri A, Scott CG et al (2018) Independent prognostic value of stroke volume index in patients with immunoglobulin light chain amyloidosis. Circ Cardiovasc Imaging 11(5):e006588. https://doi.org/10.1161/circimaging.117.006588

    Article  PubMed  PubMed Central  Google Scholar 

  48. Koyama J, Ray-Sequin PA, Davidoff R, Falk RH (2002) Usefulness of pulsed tissue Doppler imaging for evaluating systolic and diastolic left ventricular function in patients with AL (primary) amyloidosis. Am J Cardiol 89(9):1067–1071. https://doi.org/10.1016/s0002-9149(02)02277-4

    Article  PubMed  Google Scholar 

  49. Koyama J, Ray-Sequin PA, Falk RH (2003) Longitudinal myocardial function assessed by tissue velocity, strain, and strain rate tissue Doppler echocardiography in patients with AL (primary) cardiac amyloidosis. Circulation 107(19):2446–2452. https://doi.org/10.1161/01.cir.0000068313.67758.4f

    Article  PubMed  Google Scholar 

  50. Pagourelias ED, Duchenne J, Mirea O et al (2016) The relation of ejection fraction and global longitudinal strain in amyloidosis: implications for differential diagnosis. JACC Cardiovasc Imaging 9(11):1358–1359. https://doi.org/10.1016/j.jcmg.2015.11.013

    Article  PubMed  Google Scholar 

  51. Phelan D, Collier P, Thavendiranathan P et al (2012) Relative apical sparing of longitudinal strain using two-dimensional speckle-tracking echocardiography is both sensitive and specific for the diagnosis of cardiac amyloidosis. Heart 98(19):1442–1448. https://doi.org/10.1136/heartjnl-2012-302353

    Article  PubMed  Google Scholar 

  52. Liu D, Hu K, Niemann M et al (2013) 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 6(6):1066–1072. https://doi.org/10.1161/circimaging.113.000683

    Article  PubMed  Google Scholar 

  53. Bravo PE, Fujikura K, Kijewski MF et al (2019) Relative apical sparing of myocardial longitudinal strain is explained by regional differences in total amyloid mass rather than the proportion of amyloid deposits. JACC Cardiovasc Imaging 12(7 Pt 1):1165–1173. https://doi.org/10.1016/j.jcmg.2018.06.016

    Article  PubMed  Google Scholar 

  54. Sperry BW, Vranian MN, Tower-Rader A et al (2018) Regional variation in technetium pyrophosphate uptake in transthyretin cardiac amyloidosis and impact on mortality. JACC Cardiovasc Imaging 11(2 Pt 1):234–242. https://doi.org/10.1016/j.jcmg.2017.06.020

    Article  PubMed  Google Scholar 

  55. Bellavia D, Pellikka PA, Dispenzieri A et al (2012) Comparison of right ventricular longitudinal strain imaging, tricuspid annular plane systolic excursion, and cardiac biomarkers for early diagnosis of cardiac involvement and risk stratification in primary systematic (AL) amyloidosis: a 5-year cohort study. Eur Heart J Cardiovasc Imaging 13(8):680–689. https://doi.org/10.1093/ehjci/jes009

    Article  PubMed  Google Scholar 

  56. Boldrini M, Cappelli F, Chacko L et al (2020) Multiparametric echocardiography scores for the diagnosis of cardiac amyloidosis. JACC Cardiovasc Imaging 13(4):909–920. https://doi.org/10.1016/j.jcmg.2019.10.011

    Article  PubMed  Google Scholar 

  57. Huda A, Castaño A, Niyogi A et al (2021) A machine learning model for identifying patients at risk for wild-type transthyretin amyloid cardiomyopathy. Nat Commun 12(1):2725. https://doi.org/10.1038/s41467-021-22876-9

  58. Goto S, Mahara K, Beussink-Nelson L et al (2021) Artificial intelligence-enabled fully automated detection of cardiac amyloidosis using electrocardiograms and echocardiograms. Nat Commun 12(1):2726. https://doi.org/10.1038/s41467-021-22877-8

  59. Pozo E, Kanwar A, Deochand R et al (2014) Cardiac magnetic resonance evaluation of left ventricular remodelling distribution in cardiac amyloidosis. Heart 100(21):1688–1695. https://doi.org/10.1136/heartjnl-2014-305710

    Article  PubMed  Google Scholar 

  60. Kittleson MM, Maurer MS, Ambardekar AV et al (2020) Cardiac amyloidosis: evolving diagnosis and management: a scientific statement from the American Heart Association. Circulation 142(1):e7–e22. https://doi.org/10.1161/cir.0000000000000792

    Article  PubMed  Google Scholar 

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  1. Houston Methodist DeBakey Heart & Vascular Center, 6550 Fannin St, Suite 1801, Houston, TX77030, USA

    Tanushree Agrawal & Sherif F. Nagueh

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Agrawal, T., Nagueh, S.F. Echocardiographic assessment of cardiac amyloidosis. Heart Fail Rev 27, 1505–1513 (2022). https://doi.org/10.1007/s10741-021-10165-y

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