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Review article: Medical guidelines

Vol. 151 No. 4142 (2021)

Management of transthyretin amyloidosis: Guidelines from the 1st Swiss Amyloidosis Network (SAN) Consensus conference

  • Adalgisa Condoluci
  • Marie Théaudin
  • Rahel Schwotzer
  • Aju P. Pazhenkottil
  • Paolo Arosio
  • Manuela Averaimo
  • Ulrike Bacher
  • Peter Bode
  • Andrea Cavalli
  • Stefan Dirnhofer
  • Nadia Djerbi
  • Stephan Dobner
  • Thomas Fehr
  • Maura Garofalo
  • Ariana Gaspert
  • Sabine Gerull
  • Raphael Heimgartner
  • Annemarie Hübers
  • Hans H. Jung
  • Chiara Kessler
  • Raphael Knöpfel
  • Natallia Laptseva
  • Giulia Magini
  • Robert Manka
  • Luca Mazzucchelli
  • Martin Meyer
  • Violeta Mihaylova
  • Pierre Monney
  • Alessio Mylonas
  • René Nkoulou
  • Thomas Pabst
  • Otmar Pfister
  • Axel Rüfer
  • Adrian Schmidt
  • Harald Seeger
  • Simon F. Stämpfli
  • Guido Stirnimann
  • Thomas Suter
  • Giorgio Treglia
  • Alexandar Tzankov
  • Friederike Vetter
  • Markus Zweier
  • Andreas J. Flammer
  • Bernhard Gerber
DOI
https://doi.org/10.4414/SMW.2021.w30053
Cite this as:
Swiss Med Wkly. 2021;151:w30053
Published
20.10.2021

Abstract

This article was corrected and republished online on November 4, 2021. Please see Erratum (Swiss Med Wkly. 2021;151:w30104)

References

  1. Benson MD, Buxbaum JN, Eisenberg DS, Merlini G, Saraiva MJ, Sekijima Y, et al. Amyloid nomenclature 2020: update and recommendations by the International Society of Amyloidosis (ISA) nomenclature committee. Amyloid. 2020 Dec;27(4):217–22. https://doi.org/10.1080/13506129.2020.1835263
  2. Merlini G, Dispenzieri A, Sanchorawala V, Schönland SO, Palladini G, Hawkins PN, et al. Systemic immunoglobulin light chain amyloidosis. Nat Rev Dis Primers. 2018 Oct;4(1):38. https://doi.org/10.1038/s41572-018-0034-3
  3. Adams D, Koike H, Slama M, Coelho T. Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease. Nat Rev Neurol. 2019 Jul;15(7):387–404. https://doi.org/10.1038/s41582-019-0210-4
  4. Mohamed-Salem L, Santos-Mateo JJ, Sanchez-Serna J, Hernández-Vicente Á, Reyes-Marle R, Castellón Sánchez MI, et al. Prevalence of wild type ATTR assessed as myocardial uptake in bone scan in the elderly population. Int J Cardiol. 2018 Nov;270:192–6. https://doi.org/10.1016/j.ijcard.2018.06.006
  5. Longhi S, Guidalotti PL, Quarta CC, Gagliardi C, Milandri A, Lorenzini M, et al. Identification of TTR-related subclinical amyloidosis with 99mTc-DPD scintigraphy. JACC Cardiovasc Imaging. 2014 May;7(5):531–2. https://doi.org/10.1016/j.jcmg.2014.03.004
  6. Maurer MS, Bokhari S, Damy T, Dorbala S, Drachman BM, Fontana M, et al. Expert Consensus Recommendations for the Suspicion and Diagnosis of Transthyretin Cardiac Amyloidosis. Circ Heart Fail. 2019 Sep;12(9):e006075. https://doi.org/10.1161/CIRCHEARTFAILURE.119.006075
  7. Winburn I, Ishii T, Sumikawa T, Togo K, Yasunaga H. Estimating the Prevalence of Transthyretin Amyloid Cardiomyopathy in a Large In-Hospital Database in Japan. Cardiol Ther. 2019 Dec;8(2):297–316. https://doi.org/10.1007/s40119-019-0142-5
  8. Gilstrap LG, Dominici F, Wang Y, El-Sady MS, Singh A, Di Carli MF, et al. Epidemiology of Cardiac Amyloidosis-Associated Heart Failure Hospitalizations Among Fee-for-Service Medicare Beneficiaries in the United States. Circ Heart Fail. 2019 Jun;12(6):e005407. https://doi.org/10.1161/CIRCHEARTFAILURE.118.005407
  9. Buxbaum JN. Transthyretin and the Transthyretin Amyloidoses. Protein Misfolding, Aggregation, and Conformational Diseases. Protein Reviews2007. p. 259-83.
  10. Mangrolia P, Murphy RM. Retinol-Binding Protein Interferes with Transthyretin-Mediated β-Amyloid Aggregation Inhibition. Biochemistry. 2018 Aug;57(33):5029–40. https://doi.org/10.1021/acs.biochem.8b00517
  11. Yee AW, Aldeghi M, Blakeley MP, Ostermann A, Mas PJ, Moulin M, et al. A molecular mechanism for transthyretin amyloidogenesis. Nat Commun. 2019 Feb;10(1):925. https://doi.org/10.1038/s41467-019-08609-z
  12. Marcoux J, Mangione PP, Porcari R, Degiacomi MT, Verona G, Taylor GW, et al. A novel mechano-enzymatic cleavage mechanism underlies transthyretin amyloidogenesis. EMBO Mol Med. 2015 Oct;7(10):1337–49. https://doi.org/10.15252/emmm.201505357
  13. Pepys MB. The Pentraxins 1975-2018: Serendipity, Diagnostics and Drugs. Front Immunol. 2018 Oct;9:2382. https://doi.org/10.3389/fimmu.2018.02382
  14. Kisilevsky R. Theme and variations on a string of amyloid. Neurobiol Aging. 1989 Sep-Oct;10(5):499–500. https://doi.org/10.1016/0197-4580(89)90109-7
  15. Bellotti V, Nuvolone M, Giorgetti S, Obici L, Palladini G, Russo P, et al. The workings of the amyloid diseases. Ann Med. 2007;39(3):200–7. https://doi.org/10.1080/07853890701206887
  16. Schmidt HH, Waddington-Cruz M, Botteman MF, Carter JA, Chopra AS, Hopps M, et al. Estimating the global prevalence of transthyretin familial amyloid polyneuropathy. Muscle Nerve. 2018 May;57(5):829–37. https://doi.org/10.1002/mus.26034
  17. Waddington-Cruz M, Schmidt H, Botteman MF, Carter JA, Stewart M, Hopps M, et al. Epidemiological and clinical characteristics of symptomatic hereditary transthyretin amyloid polyneuropathy: a global case series. Orphanet J Rare Dis. 2019 Feb;14(1):34. https://doi.org/10.1186/s13023-019-1000-1
  18. Ueda M, Horibata Y, Shono M, Misumi Y, Oshima T, Su Y, et al. Clinicopathological features of senile systemic amyloidosis: an ante- and post-mortem study. Mod Pathol. 2011 Dec;24(12):1533–44. https://doi.org/10.1038/modpathol.2011.117
  19. Tanskanen M, Peuralinna T, Polvikoski T, Notkola IL, Sulkava R, Hardy J, 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. https://doi.org/10.1080/07853890701842988
  20. Menter T, Haslbauer JD, Nienhold R, Savic S, Hopfer H, Deigendesch N, et al. Postmortem examination of COVID-19 patients reveals diffuse alveolar damage with severe capillary congestion and variegated findings in lungs and other organs suggesting vascular dysfunction. Histopathology. 2020 Aug;77(2):198–209. https://doi.org/10.1111/his.14134
  21. Castaño A, Narotsky DL, Hamid N, Khalique OK, Morgenstern R, DeLuca A, et al. Unveiling transthyretin cardiac amyloidosis and its predictors among elderly patients with severe aortic stenosis undergoing transcatheter aortic valve replacement. Eur Heart J. 2017 Oct;38(38):2879–87. https://doi.org/10.1093/eurheartj/ehx350
  22. González-López E, Gallego-Delgado M, Guzzo-Merello G, de Haro-Del Moral FJ, Cobo-Marcos M, Robles C, et al. Wild-type transthyretin amyloidosis as a cause of heart failure with preserved ejection fraction. Eur Heart J. 2015 Oct;36(38):2585–94. https://doi.org/10.1093/eurheartj/ehv338
  23. Nitsche C, Scully PR, Patel KP, Kammerlander AA, Koschutnik M, Dona C, et al. Prevalence and Outcomes of Concomitant Aortic Stenosis and Cardiac Amyloidosis. J Am Coll Cardiol. 2021 Jan;77(2):128–39. https://doi.org/10.1016/j.jacc.2020.11.006
  24. Aus dem Siepen F, Hein S, Prestel S, Baumgärtner C, Schönland S, Hegenbart U, et al. Carpal tunnel syndrome and spinal canal stenosis: harbingers of transthyretin amyloid cardiomyopathy? Clin Res Cardiol. 2019 Dec;108(12):1324–30. https://doi.org/10.1007/s00392-019-01467-1
  25. Sperry BW, Reyes BA, Ikram A, Donnelly JP, Phelan D, Jaber WA, et al. Tenosynovial and Cardiac Amyloidosis in Patients Undergoing Carpal Tunnel Release. J Am Coll Cardiol. 2018 Oct;72(17):2040–50. https://doi.org/10.1016/j.jacc.2018.07.092
  26. Eldhagen P, Berg S, Lund LH, Sorensson P, Suhr OB, Westermark P. Transthyretin amyloid deposits in lumbar spinal stenosis and assessment of signs of systemic amyloidosis. J Intern Med. 2020.
  27. Adams D, Ando Y, Beirao JM, Coelho T, Gertz MA, Gillmore JD, et al. Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy. J Neurol. 2020. https://doi.org/10.1007/s00415-019-09688-0
  28. Quarta CC, Buxbaum JN, Shah AM, Falk RH, Claggett B, Kitzman DW, et al. The amyloidogenic V122I transthyretin variant in elderly black Americans. N Engl J Med. 2015 Jan;372(1):21–9. https://doi.org/10.1056/NEJMoa1404852
  29. Koike H, Misu K, Ikeda S, Ando Y, Nakazato M, Ando E, et al.; Study Group for Hereditary Neuropathy in Japan. Type I (transthyretin Met30) familial amyloid polyneuropathy in Japan: early- vs late-onset form. Arch Neurol. 2002 Nov;59(11):1771–6. https://doi.org/10.1001/archneur.59.11.1771
  30. Hörnsten R, Pennlert J, Wiklund U, Lindqvist P, Jensen SM, Suhr OB. Heart complications in familial transthyretin amyloidosis: impact of age and gender. Amyloid. 2010 Jun;17(2):63–8. https://doi.org/10.3109/13506129.2010.483114
  31. Olsson M, Norgren N, Obayashi K, Plante-Bordeneuve V, Suhr OB, Cederquist K, et al. A possible role for miRNA silencing in disease phenotype variation in Swedish transthyretin V30M carriers. BMC Med Genet. 2010 Sep;11(1):130. https://doi.org/10.1186/1471-2350-11-130
  32. Yamashita T, Ueda M, Misumi Y, Masuda T, Nomura T, Tasaki M, 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 Jan;265(1):134–40. https://doi.org/10.1007/s00415-017-8640-7
  33. Coelho T, Inês M, Conceição I, Soares M, de Carvalho M, Costa J. Natural history and survival in stage 1 Val30Met transthyretin familial amyloid polyneuropathy. Neurology. 2018 Nov;91(21):e1999–2009. https://doi.org/10.1212/WNL.0000000000006543
  34. Parman Y, Adams D, Obici L, Galán L, Guergueltcheva V, Suhr OB, et al.; European Network for TTR-FAP (ATTReuNET). Sixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe: where are we now? A European network approach to defining the epidemiology and management patterns for TTR-FAP. Curr Opin Neurol. 2016 Feb;29 Suppl 1:S3–13. https://doi.org/10.1097/WCO.0000000000000288
  35. Théaudin M, Lozeron P, Algalarrondo V, Lacroix C, Cauquil C, Labeyrie C, et al.; French FAP Network (CORNAMYL) Study Group. Upper limb onset of hereditary transthyretin amyloidosis is common in non-endemic areas. Eur J Neurol. 2019 Mar;26(3):497–e36. https://doi.org/10.1111/ene.13845
  36. Lozeron P, Lacroix C, Theaudin M, Richer A, Gugenheim M, Adams D, et al. An amyotrophic lateral sclerosis-like syndrome revealing an amyloid polyneuropathy associated with a novel transthyretin mutation. Amyloid. 2013 Sep;20(3):188–92. https://doi.org/10.3109/13506129.2013.818535
  37. Adams D, Lozeron P, Theaudin M, Mincheva Z, Cauquil C, Adam C, et al.; French Network for FAP. Regional difference and similarity of familial amyloidosis with polyneuropathy in France. Amyloid. 2012 Jun;19(sup1 Suppl 1):61–4. https://doi.org/10.3109/13506129.2012.685665
  38. Mariani LL, Lozeron P, Théaudin M, Mincheva Z, Signate A, Ducot B, et al.; French Familial Amyloid Polyneuropathies Network (CORNAMYL) Study Group. Genotype-phenotype correlation and course of transthyretin familial amyloid polyneuropathies in France. Ann Neurol. 2015 Dec;78(6):901–16. https://doi.org/10.1002/ana.24519
  39. Adams D, Coelho T, Obici L, Merlini G, Mincheva Z, Suanprasert N, et al. Rapid progression of familial amyloidotic polyneuropathy: a multinational natural history study. Neurology. 2015 Aug;85(8):675–82. https://doi.org/10.1212/WNL.0000000000001870
  40. Cortese A, Vegezzi E, Lozza A, Alfonsi E, Montini A, Moglia A, et al. Diagnostic challenges in hereditary transthyretin amyloidosis with polyneuropathy: avoiding misdiagnosis of a treatable hereditary neuropathy. J Neurol Neurosurg Psychiatry. 2017 May;88(5):457–8. https://doi.org/10.1136/jnnp-2016-315262
  41. Lozeron P, Mariani LL, Dodet P, Beaudonnet G, Théaudin M, Adam C, et al. Transthyretin amyloid polyneuropathies mimicking a demyelinating polyneuropathy. Neurology. 2018 Jul;91(2):e143–52. https://doi.org/10.1212/WNL.0000000000005777
  42. Koike H, Katsuno M. Ultrastructure in Transthyretin Amyloidosis: From Pathophysiology to Therapeutic Insights. Biomedicines. 2019 Feb;7(1):E11. https://doi.org/10.3390/biomedicines7010011
  43. Adams D, Théaudin M, Cauquil C, Algalarrondo V, Slama M. FAP neuropathy and emerging treatments. Curr Neurol Neurosci Rep. 2014 Mar;14(3):435. https://doi.org/10.1007/s11910-013-0435-3
  44. Briani C, Cavallaro T, Ferrari S, Taioli F, Calamelli S, Verga L, et al. Sporadic transthyretin amyloidosis with a novel TTR gene mutation misdiagnosed as primary amyloidosis. J Neurol. 2012 Oct;259(10):2226–8. https://doi.org/10.1007/s00415-012-6529-z
  45. Yakupova EI, Bobyleva LG, Vikhlyantsev IM, Bobylev AG. Congo Red and amyloids: history and relationship. Biosci Rep. 2019 Jan;39(1):BSR20181415. https://doi.org/10.1042/BSR20181415
  46. El-Meanawy A, Mueller C, Iczkowski KA. Improving sensitivity of amyloid detection by Congo red stain by using polarizing microscope and avoiding pitfalls. Diagn Pathol. 2019 Jun;14(1):57. https://doi.org/10.1186/s13000-019-0822-4
  47. Schwotzer R, Flammer AJ, Gerull S, Pabst T, Arosio P, Averaimo M, et al. Expert recommendation from the Swiss Amyloidosis Network (SAN) for systemic AL-amyloidosis. Swiss Med Wkly. 2020 Dec;150:w20364.
  48. de Paula Eduardo F, de Mello Bezinelli L, de Carvalho DL, Della-Guardia B, de Almeida MD, Marins LV, et al. Minor salivary gland biopsy for the diagnosis of familial amyloid polyneuropathy. Neurol Sci. 2017 Feb;38(2):311–8. https://doi.org/10.1007/s10072-016-2760-1
  49. Gillmore JD, Maurer MS, Falk RH, Merlini G, Damy T, Dispenzieri A, et al. Nonbiopsy Diagnosis of Cardiac Transthyretin Amyloidosis. Circulation. 2016 Jun;133(24):2404–12. https://doi.org/10.1161/CIRCULATIONAHA.116.021612
  50. Cohen OC, Sharpley F, Gilbertson JA, Wechalekar AD, Sachchithanantham S, Mahmood S, et al. The value of screening biopsies in light-chain (AL) and transthyretin (ATTR) amyloidosis. Eur J Haematol. 2020 Sep;105(3):352–6. https://doi.org/10.1111/ejh.13458
  51. Rowczenio DM, Noor I, Gillmore JD, Lachmann HJ, Whelan C, Hawkins PN, et al. Online registry for mutations in hereditary amyloidosis including nomenclature recommendations. Hum Mutat. 2014 Sep;35(9):E2403–12. https://doi.org/10.1002/humu.22619
  52. Schmidt HH, Barroso F, González-Duarte A, Conceição I, Obici L, Keohane D, et al. Management of asymptomatic gene carriers of transthyretin familial amyloid polyneuropathy. Muscle Nerve. 2016 Sep;54(3):353–60. https://doi.org/10.1002/mus.25210
  53. Paneque M, Félix J, Mendes Á, Lemos C, Lêdo S, Silva J, et al. Twenty Years of a Pre-Symptomatic Testing Protocol for Late-Onset Neurological Diseases in Portugal. Acta Med Port. 2019 Apr;32(4):295–304. https://doi.org/10.20344/amp.10526
  54. Leite Â, Dinis MA, Sequeiros J, Paúl C. Illness representations, knowledge and motivation to perform presymptomatic testing for late-onset genetic diseases. Psychol Health Med. 2017 Feb;22(2):244–9. https://doi.org/10.1080/13548506.2016.1159704
  55. Obici L, Kuks JB, Buades J, Adams D, Suhr OB, Coelho T, et al.; European Network for TTR-FAP (ATTReuNET). Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis. Curr Opin Neurol. 2016 Feb;29 Suppl 1:S27–35. https://doi.org/10.1097/WCO.0000000000000290
  56. Castro J, Miranda B, Castro I, de Carvalho M, Conceição I. The diagnostic accuracy of Sudoscan in transthyretin familial amyloid polyneuropathy. Clin Neurophysiol. 2016 May;127(5):2222–7. https://doi.org/10.1016/j.clinph.2016.02.013
  57. Cazzato D, Lauria G. Small fibre neuropathy. Curr Opin Neurol. 2017 Oct;30(5):490–9. https://doi.org/10.1097/WCO.0000000000000472
  58. Brouwer BA, de Greef BT, Hoeijmakers JG, Geerts M, van Kleef M, Merkies IS, et al. Neuropathic Pain due to Small Fiber Neuropathy in Aging: Current Management and Future Prospects. Drugs Aging. 2015 Aug;32(8):611–21. https://doi.org/10.1007/s40266-015-0283-8
  59. Suanprasert N, Berk JL, Benson MD, Dyck PJ, Klein CJ, Gollob JA, et al. Retrospective study of a TTR FAP cohort to modify NIS+7 for therapeutic trials. J Neurol Sci. 2014 Sep;344(1-2):121–8. https://doi.org/10.1016/j.jns.2014.06.041
  60. Devigili G, Rinaldo S, Lombardi R, Cazzato D, Marchi M, Salvi E, et al. Diagnostic criteria for small fibre neuropathy in clinical practice and research. Brain. 2019 Dec;142(12):3728–36. https://doi.org/10.1093/brain/awz333
  61. Haroutounian S, Todorovic MS, Leinders M, Campagnolo M, Gewandter JS, Dworkin RH, et al. Diagnostic criteria for idiopathic small fiber neuropathy: A systematic review. Muscle Nerve. 2021 Feb;63(2):170–7. https://doi.org/10.1002/mus.27070
  62. Maceira AM, Joshi J, Prasad SK, Moon JC, Perugini E, Harding I, et al. Cardiovascular magnetic resonance in cardiac amyloidosis. Circulation. 2005 Jan;111(2):186–93. https://doi.org/10.1161/01.CIR.0000152819.97857.9D
  63. Martinez-Naharro A, Kotecha T, Norrington K, Boldrini M, Rezk T, Quarta C, et al. Native T1 and Extracellular Volume in Transthyretin Amyloidosis. JACC Cardiovasc Imaging. 2019 May;12(5):810–9. https://doi.org/10.1016/j.jcmg.2018.02.006
  64. Treglia G, Glaudemans AW, Bertagna F, Hazenberg BP, Erba PA, Giubbini R, et al. Diagnostic accuracy of bone scintigraphy in the assessment of cardiac transthyretin-related amyloidosis: a bivariate meta-analysis. Eur J Nucl Med Mol Imaging. 2018 Oct;45(11):1945–55. https://doi.org/10.1007/s00259-018-4013-4
  65. Perugini E, Guidalotti PL, Salvi F, Cooke RM, Pettinato C, Riva L, et al. Noninvasive etiologic diagnosis of cardiac amyloidosis using 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid scintigraphy. J Am Coll Cardiol. 2005 Sep;46(6):1076–84. https://doi.org/10.1016/j.jacc.2005.05.073
  66. Galat A, Rosso J, Guellich A, Van Der Gucht A, Rappeneau S, Bodez D, et al. Usefulness of (99m)Tc-HMDP scintigraphy for the etiologic diagnosis and prognosis of cardiac amyloidosis. Amyloid. 2015;22(4):210–20. https://doi.org/10.3109/13506129.2015.1072089
  67. Rapezzi C, Quarta CC, Guidalotti PL, Pettinato C, Fanti S, Leone O, et al. Role of (99m)Tc-DPD scintigraphy in diagnosis and prognosis of hereditary transthyretin-related cardiac amyloidosis. JACC Cardiovasc Imaging. 2011 Jun;4(6):659–70. https://doi.org/10.1016/j.jcmg.2011.03.016
  68. Perugini E, Guidalotti PL, Salvi F, Cooke RM, Pettinato C, Riva L, et al. Noninvasive etiologic diagnosis of cardiac amyloidosis using 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid scintigraphy. J Am Coll Cardiol. 2005 Sep;46(6):1076–84. https://doi.org/10.1016/j.jacc.2005.05.073
  69. Musumeci MB, Cappelli F, Russo D, Tini G, Canepa M, Milandri A, et al. Low Sensitivity of Bone Scintigraphy in Detecting Phe64Leu Mutation-Related Transthyretin Cardiac Amyloidosis. JACC Cardiovasc Imaging. 2020 Jun;13(6):1314–21. https://doi.org/10.1016/j.jcmg.2019.10.015
  70. Suhr OB, Lundgren E, Westermark P. One mutation, two distinct disease variants: unravelling the impact of transthyretin amyloid fibril composition. J Intern Med. 2017 Apr;281(4):337–47. https://doi.org/10.1111/joim.12585
  71. Gillmore JD, Damy T, Fontana M, Hutchinson M, Lachmann HJ, Martinez-Naharro A, et al. A new staging system for cardiac transthyretin amyloidosis. Eur Heart J. 2018 Aug;39(30):2799–806. https://doi.org/10.1093/eurheartj/ehx589
  72. Merlini G, Lousada I, Ando Y, Dispenzieri A, Gertz MA, Grogan M, et al. Rationale, application and clinical qualification for NT-proBNP as a surrogate end point in pivotal clinical trials in patients with AL amyloidosis. Leukemia. 2016 Oct;30(10):1979–86. https://doi.org/10.1038/leu.2016.191
  73. Grogan M, Scott CG, Kyle RA, Zeldenrust SR, Gertz MA, Lin G, et al. Natural History of Wild-Type Transthyretin Cardiac Amyloidosis and Risk Stratification Using a Novel Staging System. J Am Coll Cardiol. 2016 Sep;68(10):1014–20. https://doi.org/10.1016/j.jacc.2016.06.033
  74. Lavatelli F, Albertini R, Di Fonzo A, Palladini G, Merlini G. Biochemical markers in early diagnosis and management of systemic amyloidoses. Clin Chem Lab Med. 2014 Nov;52(11):1517–31. https://doi.org/10.1515/cclm-2014-0235
  75. Coutinho P. Forty years of experience with type I amyloid neuropathy. Review of 483 cases. In: Glenner G CP, de Freitas A., editor. Amyloid and amyloidosis. Amsterdam: Excerpta Medica; 1980. p. 88-98.
  76. Yamamoto S, Wilczek HE, Nowak G, Larsson M, Oksanen A, Iwata T, et al. Liver transplantation for familial amyloidotic polyneuropathy (FAP): a single-center experience over 16 years. Am J Transplant. 2007 Nov;7(11):2597–604. https://doi.org/10.1111/j.1600-6143.2007.01969.x
  77. Arosio P, Vendruscolo M, Dobson CM, Knowles TP. Chemical kinetics for drug discovery to combat protein aggregation diseases. Trends Pharmacol Sci. 2014 Mar;35(3):127–35. https://doi.org/10.1016/j.tips.2013.12.005
  78. Richards DB, Cookson LM, Berges AC, Barton SV, Lane T, Ritter JM, et al. Therapeutic Clearance of Amyloid by Antibodies to Serum Amyloid P Component. N Engl J Med. 2015 Sep;373(12):1106–14. https://doi.org/10.1056/NEJMoa1504942
  79. Cardoso I, Martins D, Ribeiro T, Merlini G, Saraiva MJ. Synergy of combined doxycycline/TUDCA treatment in lowering Transthyretin deposition and associated biomarkers: studies in FAP mouse models. J Transl Med. 2010 Jul;8(1):74. https://doi.org/10.1186/1479-5876-8-74
  80. Giorgetti S, Raimondi S, Pagano K, Relini A, Bucciantini M, Corazza A, et al. Effect of tetracyclines on the dynamics of formation and destructuration of beta2-microglobulin amyloid fibrils. J Biol Chem. 2011 Jan;286(3):2121–31. https://doi.org/10.1074/jbc.M110.178376
  81. Adams D, Gonzalez-Duarte A, O’Riordan WD, Yang CC, Ueda M, Kristen AV, et al. Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis. N Engl J Med. 2018 Jul;379(1):11–21. https://doi.org/10.1056/NEJMoa1716153
  82. Benson MD, Waddington-Cruz M, Berk JL, Polydefkis M, Dyck PJ, Wang AK, et al. Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis. N Engl J Med. 2018 Jul;379(1):22–31. https://doi.org/10.1056/NEJMoa1716793
  83. Berk JL, Suhr OB, Obici L, Sekijima Y, Zeldenrust SR, Yamashita T, et al.; Diflunisal Trial Consortium. Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. JAMA. 2013 Dec;310(24):2658–67. https://doi.org/10.1001/jama.2013.283815
  84. Coelho T, Maia LF, Martins da Silva A, Waddington Cruz M, Planté-Bordeneuve V, Lozeron P, et al. Tafamidis for transthyretin familial amyloid polyneuropathy: a randomized, controlled trial. Neurology. 2012 Aug;79(8):785–92. https://doi.org/10.1212/WNL.0b013e3182661eb1
  85. Adams D, Suhr OB, Dyck PJ, Litchy WJ, Leahy RG, Chen J, et al. Trial design and rationale for APOLLO, a Phase 3, placebo-controlled study of patisiran in patients with hereditary ATTR amyloidosis with polyneuropathy. BMC Neurol. 2017 Sep;17(1):181. https://doi.org/10.1186/s12883-017-0948-5
  86. Adams D, Samuel D, Goulon-Goeau C, Nakazato M, Costa PM, Feray C, et al. The course and prognostic factors of familial amyloid polyneuropathy after liver transplantation. Brain. 2000 Jul;123(Pt 7):1495–504. https://doi.org/10.1093/brain/123.7.1495
  87. Ericzon BG, Wilczek HE, Larsson M, Wijayatunga P, Stangou A, Pena JR, et al. Liver Transplantation for Hereditary Transthyretin Amyloidosis: After 20 Years Still the Best Therapeutic Alternative? Transplantation. 2015 Sep;99(9):1847–54. https://doi.org/10.1097/TP.0000000000000574
  88. Suhr OB, Larsson M, Ericzon BG, Wilczek HE ; FAPWTRʼs investigators. Survival After Transplantation in Patients With Mutations Other Than Val30Met: Extracts From the FAP World Transplant Registry. Transplantation. 2016 Feb;100(2):373–81. https://doi.org/10.1097/TP.0000000000001021
  89. Yazaki M, Mitsuhashi S, Tokuda T, Kametani F, Takei YI, Koyama J, et al. Progressive wild-type transthyretin deposition after liver transplantation preferentially occurs onto myocardium in FAP patients. Am J Transplant. 2007 Jan;7(1):235–42. https://doi.org/10.1111/j.1600-6143.2006.01585.x
  90. Liepnieks JJ, Zhang LQ, Benson MD. Progression of transthyretin amyloid neuropathy after liver transplantation. Neurology. 2010 Jul;75(4):324–7. https://doi.org/10.1212/WNL.0b013e3181ea15d4
  91. Sekijima Y, Yazaki M, Oguchi K, Ezawa N, Yoshinaga T, Yamada M, et al. Cerebral amyloid angiopathy in posttransplant patients with hereditary ATTR amyloidosis. Neurology. 2016 Aug;87(8):773–81. https://doi.org/10.1212/WNL.0000000000003001
  92. Algalarrondo V, Antonini T, Théaudin M, Chemla D, Benmalek A, Castaing D, et al. Cause of death analysis and temporal trends in survival after liver transplantation for transthyretin familial amyloid polyneuropathy. Amyloid. 2018 Dec;25(4):253–60. https://doi.org/10.1080/13506129.2018.1550061
  93. Waddington Cruz M, Amass L, Keohane D, Schwartz J, Li H, Gundapaneni B. Early intervention with tafamidis provides long-term (5.5-year) delay of neurologic progression in transthyretin hereditary amyloid polyneuropathy. Amyloid. 2016 Sep;23(3):178–83. https://doi.org/10.1080/13506129.2016.1207163
  94. Barroso FA, Judge DP, Ebede B, Li H, Stewart M, Amass L, et al. Long-term safety and efficacy of tafamidis for the treatment of hereditary transthyretin amyloid polyneuropathy: results up to 6 years. Amyloid. 2017 Sep;24(3):194–204. https://doi.org/10.1080/13506129.2017.1357545
  95. Maurer MS, Schwartz JH, Gundapaneni B, Elliott PM, Merlini G, Waddington-Cruz M, et al.; ATTR-ACT Study Investigators. Tafamidis Treatment for Patients with Transthyretin Amyloid Cardiomyopathy. N Engl J Med. 2018 Sep;379(11):1007–16. https://doi.org/10.1056/NEJMoa1805689
  96. Rapezzi C, Elliott P, Damy T, Nativi-Nicolau J, Berk JL, Velazquez EJ, et al. Efficacy of Tafamidis in Patients With Hereditary and Wild-Type Transthyretin Amyloid Cardiomyopathy: Further Analyses From ATTR-ACT. JACC Heart Fail. 2021 Feb;9(2):115–23. https://doi.org/10.1016/j.jchf.2020.09.011
  97. Lockwood PA, Le VH, O’Gorman MT, Patterson TA, Sultan MB, Tankisheva E, et al. The Bioequivalence of Tafamidis 61-mg Free Acid Capsules and Tafamidis Meglumine 4 × 20-mg Capsules in Healthy Volunteers. Clin Pharmacol Drug Dev. 2020 Oct;9(7):849–54. https://doi.org/10.1002/cpdd.789
  98. Obici L, Berk JL, González-Duarte A, Coelho T, Gillmore J, Schmidt HH, et al. Quality of life outcomes in APOLLO, the phase 3 trial of the RNAi therapeutic patisiran in patients with hereditary transthyretin-mediated amyloidosis. Amyloid. 2020 Sep;27(3):153–62. https://doi.org/10.1080/13506129.2020.1730790
  99. González-Duarte A, Berk JL, Quan D, Mauermann ML, Schmidt HH, Polydefkis M, et al. Analysis of autonomic outcomes in APOLLO, a phase III trial of the RNAi therapeutic patisiran in patients with hereditary transthyretin-mediated amyloidosis. J Neurol. 2020 Mar;267(3):703–12. https://doi.org/10.1007/s00415-019-09602-8
  100. Solomon SD, Adams D, Kristen A, Grogan M, González-Duarte A, Maurer MS, et al. Effects of Patisiran, an RNA Interference Therapeutic, on Cardiac Parameters in Patients With Hereditary Transthyretin-Mediated Amyloidosis. Circulation. 2019 Jan;139(4):431–43. https://doi.org/10.1161/CIRCULATIONAHA.118.035831
  101. Coelho T, Yarlas A, Waddington-Cruz M, White MK, Sikora Kessler A, Lovley A, et al. Inotersen preserves or improves quality of life in hereditary transthyretin amyloidosis. J Neurol. 2020 Apr;267(4):1070–9. https://doi.org/10.1007/s00415-019-09671-9
  102. Miller SR, Sekijima Y, Kelly JW. Native state stabilization by NSAIDs inhibits transthyretin amyloidogenesis from the most common familial disease variants. Lab Invest. 2004 May;84(5):545–52. https://doi.org/10.1038/labinvest.3700059
  103. Obici L, Cortese A, Lozza A, Lucchetti J, Gobbi M, Palladini G, et al. Doxycycline plus tauroursodeoxycholic acid for transthyretin amyloidosis: a phase II study. Amyloid. 2012 Jun;19(sup1 Suppl 1):34–6. https://doi.org/10.3109/13506129.2012.678508
  104. Wixner J, Pilebro B, Lundgren HE, Olsson M, Anan I. Effect of doxycycline and ursodeoxycholic acid on transthyretin amyloidosis. Amyloid. 2017;24(sup1):78-9.
  105. Park H, Oh J, Shim G, Cho B, Chang Y, Kim S, et al. In vivo neuronal gene editing via CRISPR-Cas9 amphiphilic nanocomplexes alleviates deficits in mouse models of Alzheimer’s disease. Nat Neurosci. 2019 Apr;22(4):524–8. https://doi.org/10.1038/s41593-019-0352-0
  106. Pinney JH, Whelan CJ, Petrie A, Dungu J, Banypersad SM, Sattianayagam P, et al. Senile systemic amyloidosis: clinical features at presentation and outcome. J Am Heart Assoc. 2013 Apr;2(2):e000098. https://doi.org/10.1161/JAHA.113.000098
  107. Connors LH, Sam F, Skinner M, Salinaro F, Sun F, Ruberg FL, et al. Heart Failure Resulting From Age-Related Cardiac Amyloid Disease Associated With Wild-Type Transthyretin: A Prospective, Observational Cohort Study. Circulation. 2016 Jan;133(3):282–90. https://doi.org/10.1161/CIRCULATIONAHA.115.018852
  108. Yanagisawa A, Ueda M, Sueyoshi T, Okada T, Fujimoto T, Ogi Y, et al. Amyloid deposits derived from transthyretin in the ligamentum flavum as related to lumbar spinal canal stenosis. Mod Pathol. 2015 Feb;28(2):201–7. https://doi.org/10.1038/modpathol.2014.102
  109. Geller HI, Singh A, Alexander KM, Mirto TM, Falk RH. Association Between Ruptured Distal Biceps Tendon and Wild-Type Transthyretin Cardiac Amyloidosis. JAMA. 2017 Sep;318(10):962–3. https://doi.org/10.1001/jama.2017.9236
  110. Westermark P, Westermark GT, Suhr OB, Berg S. Transthyretin-derived amyloidosis: probably a common cause of lumbar spinal stenosis. Ups J Med Sci. 2014 Aug;119(3):223–8. https://doi.org/10.3109/03009734.2014.895786
  111. Pellikka PA, Holmes DR Jr, Edwards WD, Nishimura RA, Tajik AJ, Kyle RA. Endomyocardial biopsy in 30 patients with primary amyloidosis and suspected cardiac involvement. Arch Intern Med. 1988 Mar;148(3):662–6. https://doi.org/10.1001/archinte.1988.00380030168027
  112. Vrana JA, Gamez JD, Madden BJ, Theis JD, Bergen HR 3rd, Dogan A. Classification of amyloidosis by laser microdissection and mass spectrometry-based proteomic analysis in clinical biopsy specimens. Blood. 2009 Dec;114(24):4957–9. https://doi.org/10.1182/blood-2009-07-230722
  113. Sławek S, Araszkiewicz A, Gaczkowska A, Koszarska J, Celiński D, Grygier M, et al. Endomyocardial biopsy via the femoral access - still safe and valuable diagnostic tool. BMC Cardiovasc Disord. 2016 Nov;16(1):222. https://doi.org/10.1186/s12872-016-0406-0
  114. Pilebro B, Suhr OB, Näslund U, Westermark P, Lindqvist P, Sundström T. (99m)Tc-DPD uptake reflects amyloid fibril composition in hereditary transthyretin amyloidosis. Ups J Med Sci. 2016;121(1):17–24. https://doi.org/10.3109/03009734.2015.1122687
  115. Stats MA, Stone JR. Varying levels of small microcalcifications and macrophages in ATTR and AL cardiac amyloidosis: implications for utilizing nuclear medicine studies to subtype amyloidosis. Cardiovasc Pathol. 2016 Sep-Oct;25(5):413–7. https://doi.org/10.1016/j.carpath.2016.07.001
  116. Gillmore JD, Maurer MS, Falk RH, Merlini G, Damy T, Dispenzieri A, et al. Nonbiopsy Diagnosis of Cardiac Transthyretin Amyloidosis. Circulation. 2016 Jun;133(24):2404–12. https://doi.org/10.1161/CIRCULATIONAHA.116.021612
  117. Phull P, Sanchorawala V, Connors LH, Doros G, Ruberg FL, Berk JL, et al. Monoclonal gammopathy of undetermined significance in systemic transthyretin amyloidosis (ATTR). Amyloid. 2018 Mar;25(1):62–7. https://doi.org/10.1080/13506129.2018.1436048
  118. Damy T, Deux JF, Moutereau S, Guendouz S, Mohty D, Rappeneau S, et al. Role of natriuretic peptide to predict cardiac abnormalities in patients with hereditary transthyretin amyloidosis. Amyloid. 2013 Dec;20(4):212–20. https://doi.org/10.3109/13506129.2013.825240
  119. Quarta CC, Solomon SD, Uraizee I, Kruger J, Longhi S, Ferlito M, et al. Left ventricular structure and function in transthyretin-related versus light-chain cardiac amyloidosis. Circulation. 2014 May;129(18):1840–9. https://doi.org/10.1161/CIRCULATIONAHA.113.006242
  120. González-López E, Gagliardi C, Dominguez F, Quarta CC, de Haro-Del Moral FJ, Milandri A, et al. Clinical characteristics of wild-type transthyretin cardiac amyloidosis: disproving myths. Eur Heart J. 2017 Jun;38(24):1895–904. https://doi.org/10.1093/eurheartj/ehx043
  121. Huang J, Zhao S, Chen Z, Zhang S, Lu M. Contribution of Electrocardiogram in the Differentiation of Cardiac Amyloidosis and Nonobstructive Hypertrophic Cardiomyopathy. Int Heart J. 2015;56(5):522–6. https://doi.org/10.1536/ihj.15-005
  122. Martinez-Naharro A, Baksi AJ, Hawkins PN, Fontana M. Diagnostic imaging of cardiac amyloidosis. Nat Rev Cardiol. 2020 Jul;17(7):413–26. https://doi.org/10.1038/s41569-020-0334-7
  123. Rapezzi C, Fontana M. Relative Left Ventricular Apical Sparing of Longitudinal Strain in Cardiac Amyloidosis: Is it Just Amyloid Infiltration? JACC Cardiovasc Imaging. 2019 Jul;12(7 Pt 1):1174–6. https://doi.org/10.1016/j.jcmg.2018.07.007
  124. Martinez-Naharro A, Treibel TA, Abdel-Gadir A, Bulluck H, Zumbo G, Knight DS, et al. Magnetic Resonance in Transthyretin Cardiac Amyloidosis. J Am Coll Cardiol. 2017 Jul;70(4):466–77. https://doi.org/10.1016/j.jacc.2017.05.053
  125. Fontana M, Chung R, Hawkins PN, Moon JC. Cardiovascular magnetic resonance for amyloidosis. Heart Fail Rev. 2015 Mar;20(2):133–44. https://doi.org/10.1007/s10741-014-9470-7
  126. Baggiano A, Boldrini M, Martinez-Naharro A, Kotecha T, Petrie A, Rezk T, et al. Noncontrast Magnetic Resonance for the Diagnosis of Cardiac Amyloidosis. JACC Cardiovasc Imaging. 2020 Jan;13(1 Pt 1):69–80. https://doi.org/10.1016/j.jcmg.2019.03.026
  127. Martinez-Naharro A, Kotecha T, Norrington K, Boldrini M, Rezk T, Quarta C, et al. Native T1 and Extracellular Volume in Transthyretin Amyloidosis. JACC Cardiovasc Imaging. 2019 May;12(5):810–9. https://doi.org/10.1016/j.jcmg.2018.02.006
  128. Galat A, Rosso J, Guellich A, Van Der Gucht A, Rappeneau S, Bodez D, et al. Usefulness of (99m)Tc-HMDP scintigraphy for the etiologic diagnosis and prognosis of cardiac amyloidosis. Amyloid. 2015;22(4):210–20. https://doi.org/10.3109/13506129.2015.1072089
  129. Rapezzi C, Quarta CC, Guidalotti PL, Pettinato C, Fanti S, Leone O, et al. Role of (99m)Tc-DPD scintigraphy in diagnosis and prognosis of hereditary transthyretin-related cardiac amyloidosis. JACC Cardiovasc Imaging. 2011 Jun;4(6):659–70. https://doi.org/10.1016/j.jcmg.2011.03.016
  130. Harb SC, Haq M, Flood K, Guerrieri A, Passerell W, Jaber WA, et al. National patterns in imaging utilization for diagnosis of cardiac amyloidosis: A focus on Tc99m-pyrophosphate scintigraphy. J Nucl Cardiol. 2017 Jun;24(3):1094–7. https://doi.org/10.1007/s12350-016-0478-3
  131. Haq M, Pawar S, Berk JL, Miller EJ, Ruberg FL. Can 99mTc-Pyrophosphate Aid in Early Detection of Cardiac Involvement in Asymptomatic Variant TTR Amyloidosis? JACC Cardiovasc Imaging. 2017 Jun;10(6):713–4. https://doi.org/10.1016/j.jcmg.2016.06.003
  132. Glaudemans AW, van Rheenen RW, van den Berg MP, Noordzij W, Koole M, Blokzijl H, et al. Bone scintigraphy with (99m)technetium-hydroxymethylene diphosphonate allows early diagnosis of cardiac involvement in patients with transthyretin-derived systemic amyloidosis. Amyloid. 2014 Mar;21(1):35–44. https://doi.org/10.3109/13506129.2013.871250
  133. Hanna M, Ruberg FL, Maurer MS, Dispenzieri A, Dorbala S, Falk RH, et al. Cardiac Scintigraphy With Technetium-99m-Labeled Bone-Seeking Tracers for Suspected Amyloidosis: JACC Review Topic of the Week. J Am Coll Cardiol. 2020 Jun;75(22):2851–62. https://doi.org/10.1016/j.jacc.2020.04.022
  134. Dorbala S, Ando Y, Bokhari S, Dispenzieri A, Falk RH, Ferrari VA, 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 Card Fail. 2019 Nov;25(11):854–65. https://doi.org/10.1016/j.cardfail.2019.08.002
  135. Quarta CC, Gonzalez-Lopez E, Gilbertson JA, Botcher N, Rowczenio D, Petrie A, et al. Diagnostic sensitivity of abdominal fat aspiration in cardiac amyloidosis. Eur Heart J. 2017 Jun;38(24):1905–8. https://doi.org/10.1093/eurheartj/ehx047
  136. Cheng RK, Levy WC, Vasbinder A, Teruya S, De Los Santos J, Leedy D, et al. Diuretic Dose and NYHA Functional Class Are Independent Predictors of Mortality in Patients With Transthyretin Cardiac Amyloidosis. JACC CardioOncol. 2020 Sep;2(3):414–24. https://doi.org/10.1016/j.jaccao.2020.06.007
  137. Habtemariam BA, Karsten V, Attarwala H, Goel V, Melch M, Clausen VA, et al. Single-Dose Pharmacokinetics and Pharmacodynamics of Transthyretin Targeting N-acetylgalactosamine-Small Interfering Ribonucleic Acid Conjugate, Vutrisiran, in Healthy Subjects. Clin Pharmacol Ther. 2021 Feb;109(2):372–82. https://doi.org/10.1002/cpt.1974
  138. Rosenblum H, Castano A, Alvarez J, Goldsmith J, Helmke S, Maurer MS. TTR (Transthyretin) Stabilizers Are Associated With Improved Survival in Patients With TTR Cardiac Amyloidosis. Circ Heart Fail. 2018 Apr;11(4):e004769. https://doi.org/10.1161/CIRCHEARTFAILURE.117.004769
  139. Ikram A, Donnelly JP, Sperry BW, Samaras C, Valent J, Hanna M. Diflunisal tolerability in transthyretin cardiac amyloidosis: a single center’s experience. Amyloid. 2018 Sep;25(3):197–202. https://doi.org/10.1080/13506129.2018.1519507
  140. Castaño A, Drachman BM, Judge D, Maurer MS. Natural history and therapy of TTR-cardiac amyloidosis: emerging disease-modifying therapies from organ transplantation to stabilizer and silencer drugs. Heart Fail Rev. 2015 Mar;20(2):163–78. https://doi.org/10.1007/s10741-014-9462-7
  141. Ruberg FL, Grogan M, Hanna M, Kelly JW, Maurer MS. Transthyretin Amyloid Cardiomyopathy: JACC State-of-the-Art Review. J Am Coll Cardiol. 2019 Jun;73(22):2872–91. https://doi.org/10.1016/j.jacc.2019.04.003
  142. Mints YY, Doros G, Berk JL, Connors LH, Ruberg FL. Features of atrial fibrillation in wild-type transthyretin cardiac amyloidosis: a systematic review and clinical experience. ESC Heart Fail. 2018 Oct;5(5):772–9. https://doi.org/10.1002/ehf2.12308
  143. Brignole M, Auricchio A, Baron-Esquivias G, Bordachar P, Boriani G, Breithardt OA, et al.; Document Reviewers. 2013 ESC Guidelines on cardiac pacing and cardiac resynchronization therapy: the Task Force on cardiac pacing and resynchronization therapy of the European Society of Cardiology (ESC). Developed in collaboration with the European Heart Rhythm Association (EHRA). Eur Heart J. 2013 Aug;34(29):2281–329. https://doi.org/10.1093/eurheartj/eht150
  144. Cibeira MT, Ortiz-Pérez JT, Quintana LF, Fernádez de Larrea C, Tovar N, Bladé J. Supportive Care in AL Amyloidosis. Acta Haematol. 2020;143(4):335–42. https://doi.org/10.1159/000506760
  145. Obici L, Suhr OB. Diagnosis and treatment of gastrointestinal dysfunction in hereditary TTR amyloidosis. Clin Auton Res. 2019 Sep;29(S1 Suppl 1):55–63. https://doi.org/10.1007/s10286-019-00628-6
  146. Mehra MR, Canter CE, Hannan MM, Semigran MJ, Uber PA, Baran DA, et al.; International Society for Heart Lung Transplantation (ISHLT) Infectious Diseases, Pediatric and Heart Failure and Transplantation Councils. The 2016 International Society for Heart Lung Transplantation listing criteria for heart transplantation: A 10-year update. J Heart Lung Transplant. 2016 Jan;35(1):1–23. https://doi.org/10.1016/j.healun.2015.10.023
  147. Sousa M, Monohan G, Rajagopalan N, Grigorian A, Guglin M. Heart transplantation in cardiac amyloidosis. Heart Fail Rev. 2017 May;22(3):317–27. https://doi.org/10.1007/s10741-017-9601-z
  148. Barrett CD, Alexander KM, Zhao H, Haddad F, Cheng P, Liao R, et al. Outcomes in Patients With Cardiac Amyloidosis Undergoing Heart Transplantation. JACC Heart Fail. 2020 Jun;8(6):461–8. https://doi.org/10.1016/j.jchf.2019.12.013
  149. Conceição I, Damy T, Romero M, Galán L, Attarian S, Luigetti M, et al. Early diagnosis of ATTR amyloidosis through targeted follow-up of identified carriers of TTR gene mutations. Amyloid. 2019 Mar;26(1):3–9. https://doi.org/10.1080/13506129.2018.1556156
  150. Dohrn MF, Auer-Grumbach M, Baron R, Birklein F, Escolano-Lozano F, Geber C, et al. Chance or challenge, spoilt for choice? New recommendations on diagnostic and therapeutic considerations in hereditary transthyretin amyloidosis with polyneuropathy: the German/Austrian position and review of the literature. J Neurol. 2020.
  151. Adams D, Lacroix C, Antonini T, Lozeron P, Denier C, Kreib AM, et al. Symptomatic and proven de novo amyloid polyneuropathy in familial amyloid polyneuropathy domino liver recipients. Amyloid. 2011 Jun;18(sup1 Suppl 1):174–7. https://doi.org/10.3109/13506129.2011.574354065

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