Diagnosis, Prognosis, and Therapy of Transthyretin Amyloidosis

Journal of the American College of Cardiology

Volumn 66, Issue 21, 2015, Pages 2451-2466

  Gertz, Morie A ^a   Benson, Merrill D ^b   Dyck, Peter J ^a   Grogan, Martha ^a   Coelho, Terresa ^c   Cruz, Marcia ^d   Berk, John L ^e   Plante Bordeneuve, Violaine ^f   Schmidt, Hartmut H J ^g   Merlini, Giampaolo ^h  

^a MAYO CLINIC   (United States)

^b INDIANA UNIVERSITY   (United States)

^c HOSPITAL DE SANTO ANTÓNIO   (Portugal)

^d FEDERAL UNIVERSITY OF RIO DE JANEIRO   (Brazil)

^e BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f HENRI MONDOR HOSPITAL   (France)

^g UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^h UNIVERSITY OF PAVIA   (Italy)

Author keywords

familial amyloid cardiomyopathy; familial amyloid polyneuropathy; genetics; liver transplantation

Indexed keywords

1 [6 (2 CARBOXY 1 PYRROLIDINYL) 6 OXOHEXANOYL] 2 PYRROLIDINECARBOXYLIC ACID; 3,3 DIPHOSPHONO 1,2 PROPANODICARBOXYLIC ACID TC 99M; ANTISENSE OLIGONUCLEOTIDE; BRAIN NATRIURETIC PEPTIDE; DIFLUNISAL; DOXYCYCLINE; EPIGALLOCATECHIN GALLATE; GADOLINIUM; GREEN TEA EXTRACT; PATISIRAN; PREALBUMIN; REVUSIRAN; SERUM AMYLOID P; SMALL INTERFERING RNA; TAFAMIDIS; TAUROURSODEOXYCHOLIC ACID; TRACER; TROPONIN; UNCLASSIFIED DRUG;

AMYLOIDOSIS; ARTICLE; ARTIFICIAL HEART PACEMAKER; CARDIOVASCULAR MAGNETIC RESONANCE; CLINICAL FEATURE; DISEASE CLASSIFICATION; ECHOCARDIOGRAPHY; GENE MUTATION; HEART AMYLOIDOSIS; HEART SCINTISCANNING; HEART TRANSPLANTATION; HUMAN; IMPLANTABLE CARDIOVERTER DEFIBRILLATOR; LEFT VENTRICULAR ASSIST DEVICE; LIVER TRANSPLANTATION; MASS SPECTROMETRY; MORTALITY; NONHUMAN; PHASE 1 CLINICAL TRIAL (TOPIC); PHASE 2 CLINICAL TRIAL (TOPIC); PHASE 3 CLINICAL TRIAL (TOPIC); PREVALENCE; PRIORITY JOURNAL; PROGNOSIS; RADIOACTIVITY; RANDOMIZED CONTROLLED TRIAL (TOPIC); RNA INTERFERENCE; SINGLE DRUG DOSE; TRANSTHYRETIN AMYLOIDOSIS; AMYLOID NEUROPATHIES, FAMILIAL; ANIMAL; CARDIOMYOPATHIES;

AMYLOID NEUROPATHIES, FAMILIAL; ANIMALS; CARDIOMYOPATHIES; HUMANS; PROGNOSIS;

EID: 84961062552     PISSN: 07351097     EISSN: 15583597     Source Type: Journal    
DOI: 10.1016/j.jacc.2015.09.075     Document Type: Review

References (129)

1. J.D. Sipe, and A.S. Cohen Review: history of the amyloid fibril J Struct Biol 130 2000 88 98
2. M. Vieira, and M.J. Saraiva Transthyretin: a multifaceted protein Biomol Concepts 5 2014 45 54
3. S.K. Palaninathan Nearly 200 X-ray crystal structures of transthyretin: what do they tell us about this protein and the design of drugs for TTR amyloidoses? Curr Med Chem 19 2012 2324 2342
4. T.Q. Faria, Z.L. Almeida, P.F. Cruz, and et al. A look into amyloid formation by transthyretin: aggregation pathway and a novel kinetic model Phys Chem Chem Phys 17 2015 7255 7263
5. M.R. Almeida, N. Aoyama-Oishi, Y. Sakaki, and et al. Haplotype analysis of common transthyretin mutations Hum Genet 96 1995 350 354
6. H. Ohmori, Y. Ando, Y. Makita, and et al. Common origin of the Val30Met mutation responsible for the amyloidogenic transthyretin type of familial amyloidotic polyneuropathy J Med Genet 41 2004 e51
7. U. Hellman, and O. Suhr Regional differences and similarities of FAP in Sweden Amyloid 19 Suppl 1 2012 53 54
8. Y. Ando, T. Coelho, J.L. Berk, and et al. Guideline of transthyretin-related hereditary amyloidosis for clinicians Orphanet J Rare Dis 8 2013 31
9. A.L. Klein, L.K. Hatle, C.P. Taliercio, and et al. Prognostic significance of Doppler measures of diastolic function in cardiac amyloidosis: a Doppler echocardiography study Circulation 83 1991 808 816
10. A.R. Patel, S.W. Dubrey, L.A. Mendes, and et al. Right ventricular dilation in primary amyloidosis: an independent predictor of survival Am J Cardiol 80 1997 486 492
11. S. Ghio, S. Perlini, G. Palladini, and et al. Importance of the echocardiographic evaluation of right ventricular function in patients with AL amyloidosis Eur J Heart Fail 9 2007 808 813
12. K.M. Modesto, A. Dispenzieri, S.A. Cauduro, and et al. Left atrial myopathy in cardiac amyloidosis: implications of novel echocardiographic techniques Eur Heart J 26 2005 173 179
13. M. Nakagawa, K. Tojo, Y. Sekijima, and et al. Arterial thromboembolism in senile systemic amyloidosis: report of two cases Amyloid 19 2012 118 121
14. R.Y. Kwong, B. Heydari, S. Abbasi, and et al. Characterization of cardiac amyloidosis by atrial late gadolinium enhancement using contrast-enhanced cardiac magnetic resonance imaging and correlation with left atrial conduit and contractile function Am J Cardiol 116 2015 622 629
15. S.M. Banypersad, D.M. Sado, A.S. Flett, and et al. Quantification of myocardial extracellular volume fraction in systemic AL amyloidosis: an equilibrium contrast cardiovascular magnetic resonance study Circ Cardiovasc Imaging 6 2013 34 39
16. M.A. Gertz, A. Dispenzieri, and T. Sher Pathophysiology and treatment of cardiac amyloidosis Nat Rev Cardiol 12 2015 91 102
17. A. Castaño, B.M. Drachman, D. Judge, and et al. Natural history and therapy of TTR-cardiac amyloidosis: emerging disease-modifying therapies from organ transplantation to stabilizer and silencer drugs Heart Fail Rev 20 2015 163 178
18. J.B. Seward, and G. Casaclang-Verzosa Infiltrative cardiovascular diseases: cardiomyopathies that look alike J Am Coll Cardiol 55 2010 1769 1779
19. C. Rapezzi, G. Merlini, C.C. Quarta, and et al. Systemic cardiac amyloidoses: disease profiles and clinical courses of the 3 main types Circulation 120 2009 1203 1212
20. Y. Sekijima, S. Uchiyama, K. Tojo, and et al. High prevalence of wild-type transthyretin deposition in patients with idiopathic carpal tunnel syndrome: a common cause of carpal tunnel syndrome in the elderly Hum Pathol 42 2011 1785 1791
21. T. Coelho, M.S. Maurer, and O.B. Suhr THAOS: The Transthyretin Amyloidosis Outcomes Survey: initial report on clinical manifestations in patients with hereditary and wild-type transthyretin amyloidosis Curr Med Res Opin 29 2013 63 76
22. P.L. Swiecicki, D.B. Zhen, M.L. Mauermann, and et al. Hereditary ATTR amyloidosis: a single-institution experience with 266 patients Amyloid 22 2015 123 131
23. C.C. Quarta, J.N. Buxbaum, A.M. Shah, and et al. The amyloidogenic V122I transthyretin variant in elderly black Americans N Engl J Med 372 2015 21 29
24. J. Buxbaum, D.R. Jacobson, C. Tagoe, and et al. Transthyretin V122I in African Americans with congestive heart failure J Am Coll Cardiol 47 2006 1724 1725
25. L.H. Connors, T. Prokaeva, A. Lim, and et al. Cardiac amyloidosis in African Americans: comparison of clinical and laboratory features of transthyretin V122I amyloidosis and immunoglobulin light chain amyloidosis Am Heart J 158 2009 607 614
26. L. Lobato, I. Beirão, M. Silva, and et al. End-stage renal disease and dialysis in hereditary amyloidosis TTR V30M: presentation, survival and prognostic factors Amyloid 11 2004 27 37
27. R.A. Kyle, P.C. Spittell, M.A. Gertz, and et al. The premortem recognition of systemic senile amyloidosis with cardiac involvement Am J Med 101 1996 395 400
28. B. Ng, L.H. Connors, R. Davidoff, and et al. Senile systemic amyloidosis presenting with heart failure: a comparison with light chain-associated amyloidosis Arch Intern Med 165 2005 1425 1429
29. F.L. Ruberg, M.S. Maurer, D.P. Judge, and et al. Prospective evaluation of the morbidity and mortality of wild-type and V122I mutant transthyretin amyloid cardiomyopathy: the Transthyretin Amyloidosis Cardiac Study (TRACS) Am Heart J 164 2012 222 228.e1
30. J.H. Pinney, C.J. Whelan, A. Petrie, and et al. Senile systemic amyloidosis: clinical features at presentation and outcome J Am Heart Assoc 2 2013 e000098
31. O.B. Suhr, P. Lindqvist, B.O. Olofsson, and et al. Myocardial hypertrophy and function are related to age at onset in familial amyloidotic polyneuropathy Amyloid 13 2006 154 159
32. D. Adams, P. Lozeron, M. Theaudin, et al. French Network for FAP Regional difference and similarity of familial amyloidosis with polyneuropathy in France Amyloid 19 Suppl 1 2012 61 64
33. T.B. Crotty, C.Y. Li, W.D. Edwards, and et al. Amyloidosis and endomyocardial biopsy: Correlation of extent and pattern of deposition with amyloid immunophenotype in 100 cases Cardiovasc Pathol 4 1995 39 42
34. R.H. Falk Senile systemic amyloidosis: are regional differences real or do they reflect different diagnostic suspicion and use of techniques? Amyloid 19 Suppl 1 2012 68 70
35. T. Yamashita, K. Hamidi Asl, M. Yazaki, and et al. A prospective evaluation of the transthyretin Ile122 allele frequency in an African-American population Amyloid 12 2005 127 130
36. N. Magy-Bertrand, J.L. Dupond, F. Mauny, and et al. Incidence of amyloidosis over 3 years: the AMYPRO study Clin Exp Rheumatol 26 2008 1074 1078
37. M. Tanskanen, T. Peuralinna, T. Polvikoski, and 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 40 2008 232 239
38. M. Eriksson, J. Büttner, T. Todorov, and et al. Prevalence of germline mutations in the TTR gene in a consecutive series of surgical pathology specimens with ATTR amyloid Am J Surg Pathol 33 2009 58 65
39. B. Kieninger, M. Eriksson, R. Kandolf, and et al. Amyloid in endomyocardial biopsies Virchows Arch 456 2010 523 532
40. G. Di Bella, F. Minutoli, A. Mazzeo, and et al. MRI of cardiac involvement in transthyretin familial amyloid polyneuropathy AJR Am J Roentgenol 195 2010 W394 W399
41. C. Rapezzi, C.C. Quarta, L. Obici, and et al. Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective Eur Heart J 34 2013 520 528
42. S.O. Granstam, S. Rosengren, O. Vedin, and et al. Evaluation of patients with cardiac amyloidosis using echocardiography, ECG and right heart catheterization Amyloid 20 2013 27 33
43. F. Cappelli, S. Baldasseroni, F. Bergesio, and et al. Echocardiographic and biohumoral characteristics in patients with AL and TTR amyloidosis at diagnosis Clin Cardiol 38 2015 69 75
44. C.C. Quarta, S.D. Solomon, I. Uraizee, and et al. Left ventricular structure and function in transthyretin-related versus light-chain cardiac amyloidosis Circulation 129 2014 1840 1849
45. M.C. Porciani, A. Lilli, F. Perfetto, and et al. Tissue Doppler and strain imaging: a new tool for early detection of cardiac amyloidosis Amyloid 16 2009 63 70
46. D. Phelan, P. Collier, P. Thavendiranathan, and et al. 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 2012 1442 1448
47. H. Vogelsberg, H. Mahrholdt, C.C. Deluigi, and et al. Cardiovascular magnetic resonance in clinically suspected cardiac amyloidosis: noninvasive imaging compared to endomyocardial biopsy J Am Coll Cardiol 51 2008 1022 1030
48. M. Takeda, Y. Amano, M. Tachi, and et al. MRI differentiation of cardiomyopathy showing left ventricular hypertrophy and heart failure: differentiation between cardiac amyloidosis, hypertrophic cardiomyopathy, and hypertensive heart disease Jpn J Radiol 31 2013 693 700
49. J.F. Deux, T. Damy, A. Rahmouni, and et al. Noninvasive detection of cardiac involvement in patients with hereditary transthyretin associated amyloidosis using cardiac magnetic resonance imaging: a prospective study Amyloid 21 2014 246 255
50. J.N. Dungu, O. Valencia, J.H. Pinney, and et al. CMR-based differentiation of AL and ATTR cardiac amyloidosis J Am Coll Cardiol Img 7 2014 133 142
51. M. Fontana, S.M. Banypersad, T.A. Treibel, and et al. Native T1 mapping in transthyretin amyloidosis J Am Coll Cardiol Img 7 2014 157 165
52. J. Kollmer, E. Hund, B. Hornung, and et al. In vivo detection of nerve injury in familial amyloid polyneuropathy by magnetic resonance neurography Brain 138 2015 549 562
53. R.H. Falk, V.W. Lee, A. Rubinow, and et al. Sensitivity of technetium-99m-pyrophosphate scintigraphy in diagnosing cardiac amyloidosis Am J Cardiol 51 1983 826 830
54. 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid scintigraphy J Am Coll Cardiol 46 2005 1076 1084
55. 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid scintigraphy in the aetiological diagnosis of amyloidotic cardiomyopathy Eur J Nucl Med Mol Imaging 38 2011 470 478
56. 99mTc-DPD scintigraphy in diagnosis and prognosis of hereditary transthyretin-related cardiac amyloidosis J Am Coll Cardiol Img 4 2011 659 670
57. 99mTc-diphosphonate imaging and MRI with late gadolinium enhancement in evaluating cardiac involvement in patients with transthyretin familial amyloid polyneuropathy AJR Am J Roentgenol 200 2013 W256 W265
58. A. Castano, S. Bokhari, T.H. Brannagan III, and et al. Technetium pyrophosphate myocardial uptake and peripheral neuropathy in a rare variant of familial transthyretin (TTR) amyloidosis (Ser23Asn): a case report and literature review Amyloid 19 2012 41 46
59. 99mTc-pyrophosphate scintigraphy for differentiating light-chain cardiac amyloidosis from the transthyretin-related familial and senile cardiac amyloidoses Circ Cardiovasc Imaging 6 2013 195 201
60. W.A. Aljaroudi, M.Y. Desai, W.H. Tang, and et al. Role of imaging in the diagnosis and management of patients with cardiac amyloidosis: state of the art review and focus on emerging nuclear techniques J Nucl Cardiol 21 2014 271 283
61. 99mtechnetium-hydroxymethylene diphosphonate allows early diagnosis of cardiac involvement in patients with transthyretin-derived systemic amyloidosis Amyloid 21 2014 35 44
62. 99mTc-DPD scintigraphy J Am Coll Cardiol Img 7 2014 531 532
63. A.V. Kristen, K. Scherer, S. Buss, and et al. Noninvasive risk stratification of patients with transthyretin amyloidosis J Am Coll Cardiol Img 7 2014 502 510
64. O.B. Suhr, I. Anan, C. Backman, and et al. Do troponin and B-natriuretic peptide detect cardiomyopathy in transthyretin amyloidosis? J Intern Med 263 2008 294 301
65. S. Lehrke, H. Steen, A.V. Kristen, and et al. Serum levels of NT-proBNP as surrogate for cardiac amyloid burden: new evidence from gadolinium-enhanced cardiac magnetic resonance imaging in patients with amyloidosis Amyloid 16 2009 187 195
66. T. Damy, J.F. Deux, S. Moutereau, and et al. Role of natriuretic peptide to predict cardiac abnormalities in patients with hereditary transthyretin amyloidosis Amyloid 20 2013 212 220
67. H. Usuku, K. Obayashi, M. Shono, and et al. Usefulness of plasma B-type natriuretic peptide as a prognostic marker of cardiac function in senile systemic amyloidosis and in familial amyloidotic polyneuropathy Amyloid 20 2013 251 255
68. S. Ikeda, Y. Sekijima, K. Tojo, and et al. Diagnostic value of abdominal wall fat pad biopsy in senile systemic amyloidosis Amyloid 18 2011 211 215
69. N.M. Fine, A.M. Arruda-Olson, A. Dispenzieri, and et al. Yield of noncardiac biopsy for the diagnosis of transthyretin cardiac amyloidosis Am J Cardiol 113 2014 1723 1727
70. R. Mercan, B. Bitik, M.E. Tezcan, and et al. Minimally invasive minor salivary gland biopsy for the diagnosis of amyloidosis in a rheumatology clinic ISRN Rheumatol 2014 2014 354648
71. M. Ueda, Y. Horibata, M. Shono, and et al. Clinicopathological features of senile systemic amyloidosis: an ante- and post-mortem study Mod Pathol 24 2011 1533 1544
72. A.A. Satoskar, Y. Efebera, A. Hasan, and et al. Strong transthyretin immunostaining: potential pitfall in cardiac amyloid typing Am J Surg Pathol 35 2011 1685 1690
73. J.A. Gilbertson, J.D. Theis, J.A. Vrana, and et al. A comparison of immunohistochemistry and mass spectrometry for determining the amyloid fibril protein from formalin-fixed biopsy tissue J Clin Pathol 68 2015 314 317
74. S.O. Schönland, U. Hegenbart, T. Bochtler, and et al. Immunohistochemistry in the classification of systemic forms of amyloidosis: a systematic investigation of 117 patients Blood 119 2012 488 493
75. C. Fernández de Larrea, L. Verga, P. Morbini, and et al. A practical approach to the diagnosis of systemic amyloidoses Blood 125 2015 2239 2244
76. J.A. Vrana, J.D. Theis, S. Dasari, and et al. Clinical diagnosis and typing of systemic amyloidosis in subcutaneous fat aspirates by mass spectrometry-based proteomics Haematologica 99 2014 1239 1247
77. M. Grogan, and A. Dispenzieri Natural history and therapy of AL cardiac amyloidosis Heart Fail Rev 20 2015 155 162
78. J.T. Cassidy Cardiac amyloidosis. Two cases with digitalis sensitivity Ann Intern Med 55 1961 989 994
79. A. Rubinow, M. Skinner, and A.S. Cohen Digoxin sensitivity in amyloid cardiomyopathy Circulation 63 1981 1285 1288
80. C. Russo, P. Green, and M. Maurer The prognostic significance of central hemodynamics in patients with cardiac amyloidosis Amyloid 20 2013 199 203
81. A.V. Kristen, T.J. Dengler, U. Hegenbart, and et al. Prophylactic implantation of cardioverter-defibrillator in patients with severe cardiac amyloidosis and high risk for sudden cardiac death Heart Rhythm 5 2008 235 240
82. G. Lin, A. Dispenzieri, R. Kyle, and et al. Implantable cardioverter defibrillators in patients with cardiac amyloidosis J Cardiovasc Electrophysiol 24 2013 793 798
83. B.C. Varr, S. Zarafshar, T. Coakley, and et al. Implantable cardioverter-defibrillator placement in patients with cardiac amyloidosis Heart Rhythm 11 2014 158 162
84. A. Dhoble, A. Khasnis, A. Olomu, and et al. Cardiac amyloidosis treated with an implantable cardioverter defibrillator and subcutaneous array lead system: report of a case and literature review Clin Cardiol 32 2009 E63 E65
85. V. Algalarrondo, S. Dinanian, C. Juin, and et al. Prophylactic pacemaker implantation in familial amyloid polyneuropathy Heart Rhythm 9 2012 1069 1075
86. P.L. Swiecicki, B.S. Edwards, S.S. Kushwaha, and et al. Left ventricular device implantation for advanced cardiac amyloidosis J Heart Lung Transplant 32 2013 563 568
87. A. Grupper, S.J. Park, N.L. Pereira, and et al. Role of ventricular assist therapy for patients with heart failure and restrictive physiology: improving outcomes for a lethal disease J Heart Lung Transplant 34 2015 1042 1049
88. M. Tasaki, M. Ueda, K. Obayashi, and et al. Effect of age and sex differences on wild-type transthyretin amyloid formation in familial amyloidotic polyneuropathy: a proteomic approach Int J Cardiol 170 2013 69 74
89. M. Yazaki, J.J. Liepnieks, J.C. Kincaid, and et al. Contribution of wild-type transthyretin to hereditary peripheral nerve amyloid Muscle Nerve 28 2003 438 442
90. J.J. Liepnieks, and M.D. Benson Progression of cardiac amyloid deposition in hereditary transthyretin amyloidosis patients after liver transplantation Amyloid 14 2007 277 282
91. G. Drent, C.W. Graveland, B.P. Hazenberg, and et al. Quality of life in patients with familial amyloidotic polyneuropathy long-term after liver transplantation Amyloid 16 2009 133 141
92. E. Ihse, A.J. Stangou, N.D. Heaton, and et al. Proportion between wild-type and mutant protein in truncated compared to full-length ATTR: an analysis on transplanted transthyretin T60A amyloidosis patients Biochem Biophys Res Commun 379 2009 846 850
93. E. Roig, L. Almenar, F. González-Vílchez, and et al. Spanish Register for Heart Transplantation. Outcomes of heart transplantation for cardiac amyloidosis: subanalysis of the Spanish registry for heart transplantation Am J Transplant 9 2009 1414 1419
94. J.J. Liepnieks, L.Q. Zhang, and M.D. Benson Progression of transthyretin amyloid neuropathy after liver transplantation Neurology 75 2010 324 327
95. S. Okamoto, Y. Zhao, P. Lindqvist, and et al. Development of cardiomyopathy after liver transplantation in Swedish hereditary transthyretin amyloidosis (ATTR) patients Amyloid 18 2011 200 205
96. M.D. Benson Liver transplantation and transthyretin amyloidosis Muscle Nerve 47 2013 157 162
97. T. Oshima, S. Kawahara, M. Ueda, and et al. Changes in pathological and biochemical findings of systemic tissue sites in familial amyloid polyneuropathy more than 10 years after liver transplantation J Neurol Neurosurg Psychiatry 85 2014 740 746
98. L.F. Maia, R. Magalhães, J. Freitas, and et al. CNS involvement in V30M transthyretin amyloidosis: clinical, neuropathological and biochemical findings J Neurol Neurosurg Psychiatry 86 2015 159 167
99. A. Carvalho, A. Rocha, and L. Lobato Liver transplantation in transthyretin amyloidosis: issues and challenges Liver Transpl 21 2015 282 292
100. B.G. Ericzon, H.E. Wilczek, M. Larsson, and et al. Liver Transplantation for hereditary transthyretin amyloidosis: after 20 years still the best therapeutic alternative? Transplantation 99 2015 1847 1854
101. F.U. Sack, A. Kristen, H. Goldschmidt, and et al. Treatment options for severe cardiac amyloidosis: heart transplantation combined with chemotherapy and stem cell transplantation for patients with AL-amyloidosis and heart and liver transplantation for patients with ATTR-amyloidosis Eur J Cardiothorac Surg 33 2008 257 262
102. L.M. Nelson, L. Penninga, K. Sander, and et al. Long-term outcome in patients treated with combined heart and liver transplantation for familial amyloidotic cardiomyopathy Clin Transplant 27 2013 203 209
103. T. Thenappan, S. Fedson, J. Rich, and et al. Isolated heart transplantation for familial transthyretin (TTR) V122I cardiac amyloidosis Amyloid 21 2014 120 123
104. I.M. Hamour, H.J. Lachmann, H.J. Goodman, and et al. Heart transplantation for homozygous familial transthyretin (TTR) V122I cardiac amyloidosis Am J Transplant 8 2008 1056 1059
105. M.K. Davis, P. Kale, M. Liedtke, and et al. Outcomes after heart transplantation for amyloid cardiomyopathy in the modern era Am J Transplant 15 2015 650 658
106. L. Obici, and G. Merlini An overview of drugs currently under investigation for the treatment of transthyretin-related hereditary amyloidosis Expert Opin Investig Drugs 23 2014 1239 1251
107. N. Suanprasert, J.L. Berk, M.D. Benson, and et al. Retrospective study of a TTR FAP cohort to modify NIS+7 for therapeutic trials J Neurol Sci 344 2014 121 128
108. A.V. Kristen, S. Lehrke, S. Buss, and et al. Green tea halts progression of cardiac transthyretin amyloidosis: an observational report Clin Res Cardiol 101 2012 805 813
109. Y. Sekijima, M.A. Dendle, and J.W. Kelly Orally administered diflunisal stabilizes transthyretin against dissociation required for amyloidogenesis Amyloid 13 2006 236 249
110. K. Tojo, Y. Sekijima, J.W. Kelly, and et al. Diflunisal stabilizes familial amyloid polyneuropathy-associated transthyretin variant tetramers in serum against dissociation required for amyloidogenesis Neurosci Res 56 2006 441 449
111. A. Castaño, S. Helmke, J. Alvarez, and et al. Diflunisal for ATTR cardiac amyloidosis Congest Heart Fail 18 2012 315 319
112. J.L. Berk, O.B. Suhr, L. Obici, and et al. Diflunisal Trial Consortium. Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial JAMA 310 2013 2658 2667
113. R. Takahashi, K. Ono, S. Shibata, and et al. Efficacy of diflunisal on autonomic dysfunction of late-onset familial amyloid polyneuropathy (TTR Val30Met) in a Japanese endemic area J Neurol Sci 345 2014 231 235
114. S.M. Johnson, S. Connelly, C. Fearns, and et al. The transthyretin amyloidoses: from delineating the molecular mechanism of aggregation linked to pathology to a regulatory-agency-approved drug J Mol Biol 421 2012 185 203
115. T. Coelho, L.F. Maia, A. Martins da Silva, and et al. Tafamidis for transthyretin familial amyloid polyneuropathy: a randomized, controlled trial Neurology 79 2012 785 792
116. T. Coelho, L.F. Maia, A.M. da Silva, and et al. Long-term effects of tafamidis for the treatment of transthyretin familial amyloid polyneuropathy J Neurol 260 2013 2802 2814
117. G. Merlini, V. Planté-Bordeneuve, D.P. Judge, and et al. Effects of tafamidis on transthyretin stabilization and clinical outcomes in patients with non-Val30Met transthyretin amyloidosis J Cardiovasc Transl Res 6 2013 1011 1020
118. P. Lozeron, M. Théaudin, Z. Mincheva, et al. French Network for FAP (CORNAMYL) Effect on disability and safety of Tafamidis in late onset of Met30 transthyretin familial amyloid polyneuropathy Eur J Neurol 20 2013 1539 1545
119. L.J. Scott Tafamidis: a review of its use in familial amyloid polyneuropathy Drugs 74 2014 1371 1378
120. M.S. Maurer, D.R. Grogan, D.P. Judge, and et al. Tafamidis in transthyretin amyloid cardiomyopathy: effects on transthyretin stabilization and clinical outcomes Circ Heart Fail 8 2015 519 526
121. T. Kurosawa, S. Igarashi, M. Nishizawa, and O. Onodera Selective silencing of a mutant transthyretin allele by small interfering RNAs Biochem Biophys Res Commun 337 2005 1012 1018
122. S.Y. Wu, G. Lopez-Berestein, G.A. Calin, and et al. RNAi therapies: drugging the undruggable Sci Transl Med 6 2014 240ps7
123. T. Coelho, D. Adams, A. Silva, and et al. Safety and efficacy of RNAi therapy for transthyretin amyloidosis N Engl J Med 369 2013 819 829
124. M.D. Benson, B. Kluve-Beckerman, S.R. Zeldenrust, and et al. Targeted suppression of an amyloidogenic transthyretin with antisense oligonucleotides Muscle Nerve 33 2006 609 618
125. E.J. Ackermann, S. Guo, S. Booten, and et al. Clinical development of an antisense therapy for the treatment of transthyretin-associated polyneuropathy Amyloid 19 Suppl 1 2012 43 44
126. I. Cardoso, G. Merlini, and M.J. Saraiva 4'-iodo-4'-deoxydoxorubicin and tetracyclines disrupt transthyretin amyloid fibrils in vitro producing noncytotoxic species: screening for TTR fibril disrupters FASEB J 17 2003 803 809
127. I. Cardoso, D. Martins, T. Ribeiro, and et al. Synergy of combined doxycycline/TUDCA treatment in lowering Transthyretin deposition and associated biomarkers: studies in FAP mouse models J Transl Med 8 2010 74
128. L. Obici, A. Cortese, A. Lozza, and et al. Doxycycline plus tauroursodeoxycholic acid for transthyretin amyloidosis: a phase II study Amyloid 19 Suppl 1 2012 34 36
129. K. Bodin, S. Ellmerich, M.C. Kahan, and et al. Antibodies to human serum amyloid P component eliminate visceral amyloid deposits Nature 468 2010 93 97