Diagnosis and treatment of cardiac amyloidosis. A position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases

Pablo Garcia-Pavia, Claudio Rapezzi, Yehuda Adler, Michael Arad, Cristina Basso, Antonio Brucato, Ivana Burazor, Alida L P Caforio, Thibaud Damy, Urs Eriksson, Marianna Fontana, Julian D Gillmore, Esther Gonzalez-Lopez, Martha Grogan, Stephane Heymans, Massimo Imazio, Ingrid Kindermann, Arnt V Kristen, Mathew S Maurer, Giampaolo Merlini, Antonis Pantazis, Sabine Pankuweit, Angelos G Rigopoulos, Ales Linhart, Pablo Garcia-Pavia, Claudio Rapezzi, Yehuda Adler, Michael Arad, Cristina Basso, Antonio Brucato, Ivana Burazor, Alida L P Caforio, Thibaud Damy, Urs Eriksson, Marianna Fontana, Julian D Gillmore, Esther Gonzalez-Lopez, Martha Grogan, Stephane Heymans, Massimo Imazio, Ingrid Kindermann, Arnt V Kristen, Mathew S Maurer, Giampaolo Merlini, Antonis Pantazis, Sabine Pankuweit, Angelos G Rigopoulos, Ales Linhart

Abstract

Cardiac amyloidosis is a serious and progressive infiltrative disease that is caused by the deposition of amyloid fibrils at the cardiac level. It can be due to rare genetic variants in the hereditary forms or as a consequence of acquired conditions. Thanks to advances in imaging techniques and the possibility of achieving a non-invasive diagnosis, we now know that cardiac amyloidosis is a more frequent disease than traditionally considered. In this position paper the Working Group on Myocardial and Pericardial Disease proposes an invasive and non-invasive definition of cardiac amyloidosis, addresses clinical scenarios and situations to suspect the condition and proposes a diagnostic algorithm to aid diagnosis. Furthermore, we also review how to monitor and treat cardiac amyloidosis, in an attempt to bridge the gap between the latest advances in the field and clinical practice.

© European Society of Cardiology 2021.

References

    1. Maurer MS, Elliott P, Comenzo R, Semigran M, Rapezzi C. Addressing common questions encountered in the diagnosis and management of cardiac amyloidosis. Circulation 2017;135:1357-1377.
    1. Ruberg FL, Grogan M, Hanna M, Kelly JW, Maurer MS. Transthyretin amyloid cardiomyopathy: JACC state-of-the-art review. J Am Coll Cardiol 2019;73:2872-2891.
    1. Benson MD, Buxbaum JN, Eisenberg DS, Merlini G, Saraiva MJM, Sekijima Y, Sipe JD, Westermark P. Amyloid nomenclature 2018: recommendations by the International Society of Amyloidosis (ISA) nomenclature committee. Amyloid 2018;25:215-219.
    1. Maleszewski JJ. Cardiac amyloidosis: pathology, nomenclature, and typing. Cardiovasc Pathol 2015;24:343-350.
    1. Boldrini M, Cappelli F, Chacko L, Restrepo-Cordoba MA, 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, Mingo-Santos S, Mirelis JG, Dominguez F, Gonzalez-Lopez E, Perlini S, Pontone G, Gillmore J, Hawkins PN, Garcia-Pavia P, Emdin M, Fontana M. Multiparametric echocardiography scores for the diagnosis of cardiac amyloidosis. JACC Cardiovasc Imaging 2020;13:909-920.
    1. Gillmore JD, Maurer MS, Falk RH, Merlini G, Damy T, Dispenzieri A, Wechalekar AD, Berk JL, Quarta CC, Grogan M, Lachmann HJ, Bokhari S, Castano A, Dorbala S, Johnson GB, Glaudemans AW, Rezk T, Fontana M, Palladini G, Milani P, Guidalotti PL, Flatman K, Lane T, Vonberg FW, Whelan CJ, Moon JC, Ruberg FL, Miller EJ, Hutt DF, Hazenberg BP, Rapezzi C, Hawkins PN. Nonbiopsy diagnosis of cardiac transthyretin amyloidosis. Circulation 2016;133:2404-2412.
    1. Palladini G, Russo P, Bosoni T, Verga L, Sarais G, Lavatelli F, Nuvolone M, Obici L, Casarini S, Donadei S, Albertini R, Righetti G, Marini M, Graziani MS, Melzi D'Eril GV, Moratti R, Merlini G. Identification of amyloidogenic light chains requires the combination of serum-free light chain assay with immunofixation of serum and urine. Clin Chem 2009;55:499-504.
    1. Sprangers B, Claes K, Evenepoel P, Kuypers D, Poesen K, Delforge M, Bossuyt VX, Meijers B. Comparison of 2 serum-free light-chain assays in CKD patients. Kidney Int Rep 2020;5:627-631.
    1. Layoun ME, Desmarais J, Heitner SB, Masri A. Hot hearts on bone scintigraphy are not all amyloidosis: hydroxychloroquine-induced restrictive cardiomyopathy. Eur Heart J 2020;41:2414.
    1. López-Sainz Á, Hernandez-Hernandez A, Gonzalez-Lopez E, Domínguez F, Restrepo-Cordoba MA, Cobo-Marcos M, Gómez-Bueno M, Hernandez-Perez FJ, Oteo JF, Mirelis JG, Cavero MA, Moñivas V, Mingo Santos S, de Haro-Del Moral FJ, Krsnik I, Salas C, Bornstein B, Briceño A, López JA, Vázquez J, Alonso-Pulpón L, Segovia J, Garcia-Pavia P. Clinical spectrum and evolution of cardiac amyloidosis in a Spanish referral center. Rev Esp Cardiol (Engl Ed) 2021;74:149-158.
    1. González-López E, Gallego-Delgado M, Guzzo-Merello G, de Haro-Del Moral FJ, Cobo-Marcos M, Robles C, Bornstein B, Salas C, Lara-Pezzi E, Alonso-Pulpon L, Garcia-Pavia P. Wild-type transthyretin amyloidosis as a cause of heart failure with preserved ejection fraction. Eur Heart J 2015;36:2585-2594.
    1. Damy T, Costes B, Hagège AA, Donal E, Eicher JC, Slama M, Guellich A, Rappeneau S, Gueffet JP, Logeart D, Planté-Bordeneuve V, Bouvaist H, Huttin O, Mulak G, Dubois-Randé JL, Goossens M, Canoui-Poitrine F, Buxbaum JN. Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness. Eur Heart J 2016;37:1826-1834.
    1. Castaño A, Narotsky DL, Hamid N, Khalique OK, Morgenstern R, DeLuca A, Rubin J, Chiuzan C, Nazif T, Vahl T, George I, Kodali S, Leon MB, Hahn R, Bokhari S, Maurer MS. Unveiling transthyretin cardiac amyloidosis and its predictors among elderly patients with severe aortic stenosis undergoing transcatheter aortic valve replacement. Eur Heart J 2017;38:2879-2887.
    1. Sayago I, Krsnik I, Gómez-Bueno M, García-Pavía P, Jaramillo N, Salas C, Mingo S, Oteo JF, Alonso-Pulpón L, Segovia J. Analysis of diagnostic and therapeutic strategies in advanced cardiac light-chain amyloidosis. J Heart Lung Transplant 2016;35:995-1002.
    1. Kumar S, Dispenzieri A, Lacy MQ, Hayman SR, Buadi FK, Colby C, Laumann K, Zeldenrust SR, Leung N, Dingli D, Greipp PR, Lust JA, Russell SJ, Kyle RA, Rajkumar SV, Gertz MA. Revised prognostic staging system for light chain amyloidosis incorporating cardiac biomarkers and serum free light chain measurements. J Clin Oncol 2012;30:989-995.
    1. Lilleness B, Ruberg FL, Mussinelli R, Doros G, Sanchorawala V. Development and validation of a survival staging system incorporating BNP in patients with light chain amyloidosis. Blood 2019;133:215-223.
    1. Grogan M, Scott CG, Kyle RA, Zeldenrust SR, Gertz MA, Lin G, Klarich KW, Miller WL, Maleszewski JJ, Dispenzieri A. Natural history of wild-type transthyretin cardiac amyloidosis and risk stratification using a novel staging system. J Am Coll Cardiol 2016;68:1014-1020.
    1. Gillmore JD, Damy T, Fontana M, Hutchinson M, Lachmann HJ, Martinez-Naharro A, Quarta CC, Rezk T, Whelan CJ, Gonzalez-Lopez E, Lane T, Gilbertson JA, Rowczenio D, Petrie A, Hawkins PN. A new staging system for cardiac transthyretin amyloidosis. Eur Heart J 2018;39:2799-2806.
    1. Cheng RK, Levy WC, Vasbinder A, Teruya S, De Los Santos J, Leedy D, Maurer MS. Diuretic dose and NYHA functional class are independent predictors of mortality in patients with transthyretin cardiac amyloidosis. JACC CardioOncol 2020;2:414-424.
    1. Law S, Petrie A, Chacko L, Cohen OC, Ravichandran S, Gilbertson JA, Rowczenio D, Wechalekar A, Martinez-Naharro A, Lachmann HJ, Whelan CJ, Hutt DF, Hawkins PN, Fontana M, Gillmore JD. Disease progression in cardiac transthyretin amyloidosis is indicated by serial calculation of National Amyloidosis Centre transthyretin amyloidosis stage. ESC Heart Fail 2020;7:3942-3949.
    1. Maurer MS, Schwartz JH, Gundapaneni B, Elliott PM, Merlini G, Waddington-Cruz M, Kristen AV, Grogan M, Witteles R, Damy T, Drachman BM, Shah SJ, Hanna M, Judge DP, Barsdorf AI, Huber P, Patterson TA, Riley S, Schumacher J, Stewart M, Sultan MB, Rapezzi C; ATTR-ACT Study Investigators. Tafamidis treatment for patients with transthyretin amyloid cardiomyopathy. N Engl J Med 2018;379:1007-1016.
    1. Conceição I, Coelho T, Rapezzi C, Parman Y, Obici L, Galán L, Rousseau A. Assessment of patients with hereditary transthyretin amyloidosis - understanding the impact of management and disease progression. Amyloid 2019;26:103-111.
    1. Muchtar E, Grace L, Grogan M. The challenges in chemotherapy and stem cell transplantation for light-chain amyloidosis. Can J Cardiol 2020;36:384-395.
    1. Saith SE, Maurer MS, Patel AR. Systemic amyloidosis due to monoclonal immunoglobulins. Hematol Oncol Clin North Am 2020;34:1055-1068.
    1. Garcia-Pavia P, Domínguez F, Gonzalez-Lopez E. Transthyretin amyloid cardiomyopathy. Med Clin (Barc) 2021;156:126-134.
    1. Palladini G, Merlini G. What is new in diagnosis and management of light chain amyloidosis? Blood 2016;128:159-168.
    1. Rapezzi C, Elliott P, Damy T, Nativi-Nicolau J, Berk JL, Velazquez EJ, Boman K, Gundapaneni B, Patterson TA, Schwartz JH, Sultan MB, Maurer MS. Efficacy of tafamidis in patients with hereditary and wild-type transthyretin amyloid cardiomyopathy: further analyses from ATTR-ACT. JACC Heart Fail 2021;9:115-123.
    1. Adams D, Gonzalez-Duarte A, O'Riordan WD, Yang CC, Ueda M, Kristen AV, Tournev I, Schmidt HH, Coelho T, Berk JL, Lin KP, Vita G, Attarian S, Planté-Bordeneuve V, Mezei MM, Campistol JM, Buades J, Brannagan TH 3rd, Kim BJ, Oh J, Parman Y, Sekijima Y, Hawkins PN, Solomon SD, Polydefkis M, Dyck PJ, Gandhi PJ, Goyal S, Chen J, Strahs AL, Nochur SV, Sweetser MT, Garg PP, Vaishnaw AK, Gollob JA, Suhr OB. Patisiran, an RNAi therapeutic, for hereditary transthyretin amyloidosis. N Engl J Med 2018;379:11-21.
    1. Benson MD, Waddington-Cruz M, Berk JL, Polydefkis M, Dyck PJ, Wang AK, Planté-Bordeneuve V, Barroso FA, Merlini G, Obici L, Scheinberg M, Brannagan TH 3rd, Litchy WJ, Whelan C, Drachman BM, Adams D, Heitner SB, Conceição I, Schmidt HH, Vita G, Campistol JM, Gamez J, Gorevic PD, Gane E, Shah AM, Solomon SD, Monia BP, Hughes SG, Kwoh TJ, McEvoy BW, Jung SW, Baker BF, Ackermann EJ, Gertz MA, Coelho T. Inotersen treatment for patients with hereditary transthyretin amyloidosis. N Engl J Med 2018;379:22-31.

Source: PubMed

Sponsors and Collaborators

Medical Conditions

Drug Interventions

3
Subscribe