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References

  1. Savarese G, Becher PM, Lund LH, Seferovic P, Rosano GMC, Coats AJS. Global burden of heart failure: a comprehensive and updated review of epidemiology. Cardiovasc Res. 2023; 118(17): 327287. DOI: 10.1093/cvr/cvac013
  2. Metra M, Teerlink JR. Heart failure. Lancet. 2017; 390(10106): 198195. DOI: 10.1016/S0140-6736(17)31071-1
  3. Ferreira JP, Kraus S, Mitchell S, Perel P, Piñeiro D, Chioncel O, et al. World Heart Federation Roadmap for Heart Failure. Glob Heart. 2019; 14(3): 197214. DOI: 10.1016/j.gheart.2019.07.004
  4. Dunlay SM, Roger VL, Redfield MM. Epidemiology of heart failure with preserved ejection fraction. Nat Rev Cardiol. 2017; 14(10): 591602. DOI: 10.1038/nrcardio.2017.65
  5. Ma C, Luo H, Fan L, Liu X, Gao C. Heart failure with preserved ejection fraction: an update on pathophysiology, diagnosis, treatment, and prognosis. Braz J Med Biol Res. 2020; 53(7):e9646. DOI: 10.1590/1414-431x20209646
  6. Redfield MM. Heart Failure with Preserved Ejection Fraction. N Engl J Med. 2016; 375(19): 186877. DOI: 10.1056/NEJMcp1511175
  7. Benson MD, Buxbaum JN, Eisenberg DS, Merlini G, Saraiva MJM, Sekijima Y, et al. Amyloid nomenclature 2018: recommendations by the International Society of Amyloidosis (ISA) nomenclature committee. Amyloid. 2018; 25(4): 2159. DOI: 10.1080/13506129.2018.1549825
  8. AbouEzzeddine OF, Davies DR, Scott CG, Fayyaz AU, Askew JW, McKie PM, et al. Prevalence of Transthyretin Amyloid Cardiomyopathy in Heart Failure With Preserved Ejection Fraction. JAMA Cardiol. 2021; 6(11): 126774. DOI: 10.1001/jamacardio.2021.3070
  9. 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(22): 287291. DOI: 10.1016/j.jacc.2019.04.003
  10. Yamamoto H, Yokochi T. Transthyretin cardiac amyloidosis: an update on diagnosis and treatment. ESC Heart Fail. 2019; 6(6): 112839. DOI: 10.1002/ehf2.12518
  11. Maurer MS, Schwartz JH, Gundapaneni B, Elliott PM, Merlini G, Waddington-Cruz M, et al. Tafamidis Treatment for Patients with Transthyretin Amyloid Cardiomyopathy. N Engl J Med. 2018; 379(11): 100716. DOI: 10.1056/NEJMoa1805689
  12. Tschöpe C, Elsanhoury A. Treatment of Transthyretin Amyloid Cardiomyopathy: The Current Options, the Future, and the Challenges. J Clin Med. 2022; 11(8). DOI: 10.3390/jcm11082148
  13. 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; 38(24): 1895904. DOI: 10.1093/eurheartj/ehx043
  14. 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; 379(1): 1121. DOI: 10.1056/NEJMoa1716153
  15. Alexander KM, Orav J, Singh A, Jacob SA, Menon A, Padera RF, et al. Geographic Disparities in Reported US Amyloidosis Mortality From 1979 to 2015: Potential Underdetection of Cardiac Amyloidosis. JAMA Cardiol. 2018; 3(9): 86570. DOI: 10.1001/jamacardio.2018.2093
  16. Vuong J, Singh A, Falk RH, Merchant R, Dorbala S. Geographic variation in public interest about amyloidosis in the United States and English speaking countries. Amyloid. 2020; 27(3): 2102. DOI: 10.1080/13506129.2020.1724941
  17. Mircsof D. Diagnosis of Amyloidosis: A Survey of Current Awareness and Clinical Challenges Among Cardiologists in Switzerland. Cardiol Ther. 2020; 9(1): 12738. DOI: 10.1007/s40119-019-00160-8
  18. Adam R, Neculae G, Stan C, Jurcut R. Current Challenges of Cardiac Amyloidosis Awareness among Romanian Cardiologists. Diagnostics (Basel). 2021; 11(5). DOI: 10.3390/diagnostics11050834
  19. Al Badarin F, Al-Humood K, Bader F, Alsaid S, Sulaiman K, Alzadjali M, et al. Physician Knowledge and Awareness About Cardiac Amyloidosis in the Middle East and Gulf Region. JACC CardioOncol. 2022; 4(3): 4214. DOI: 10.1016/j.jaccao.2022.05.011
  20. Mut F, Carvajal I, Camilletti J, Erriest J, Alexanderson E, Grossman GB. Cardiac amyloidosis in Latin America: Gaps and opportunities to increase awareness of the disease. Findings from the AMILO-LATAM research group. J Nucl Cardiol. 2022: 110. DOI: 10.1007/s12350-022-03005-5
  21. Nativi-Nicolau J, Siu A, Dispenzieri A, Maurer MS, Rapezzi C, Kristen AV, et al. Temporal Trends of Wild-Type Transthyretin Amyloid Cardiomyopathy in the Transthyretin Amyloidosis Outcomes Survey. JACC CardioOncol. 2021; 3(4): 53746. DOI: 10.1016/j.jaccao.2021.08.009
  22. Yilmaz A, Bauersachs J, Bengel F, Büchel R, Kindermann I, Klingel K, et al. Diagnosis and treatment of cardiac amyloidosis: position statement of the German Cardiac Society (DGK). Clin Res Cardiol. 2021; 110(4): 479506. DOI: 10.1007/s00392-020-01799-3
  23. 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; 38(38): 287987. DOI: 10.1093/eurheartj/ehx350
  24. Lousada I, Maurer M, Warner M, Guthrie S, Hsu K, Grogan M. AMYLOIDOSIS RESEARCH CONSORTIUM CARDIAC AMYLOIDOSIS SURVEY: RESULTS FROM PATIENTS WITH AL AND ATTR AMYLOIDOSIS AND THEIR CAREGIVERS. Journal of the American College of Cardiology. 2018; 71(11_Supplement): A890. DOI: 10.1016/S0735-1097(18)31431-1
  25. Falk RH, Alexander KM, Liao R, Dorbala S. AL (Light-Chain) Cardiac Amyloidosis: A Review of Diagnosis and Therapy. J Am Coll Cardiol. 2016; 68(12): 132341. DOI: 10.1016/j.jacc.2016.06.053
  26. Lane T, Fontana M, Martinez-Naharro A, Quarta CC, Whelan CJ, Petrie A, et al. Natural History, Quality of Life, and Outcome in Cardiac Transthyretin Amyloidosis. Circulation. 2019; 140(1): 1626. DOI: 10.1161/CIRCULATIONAHA.118.038169
  27. Cuddy SAM, Falk RH. Amyloidosis as a Systemic Disease in Context. Can J Cardiol. 2020; 36(3): 396407. DOI: 10.1016/j.cjca.2019.12.033
  28. Stern LK, Kittleson MM. Updates in Cardiac Amyloidosis Diagnosis and Treatment. Curr Oncol Rep. 2021; 23(4): 47. DOI: 10.1007/s11912-021-01028-8
  29. Kyle RA, Larson DR, Kurtin PJ, Kumar S, Cerhan JR, Therneau TM, et al. Incidence of AL Amyloidosis in Olmsted County, Minnesota, 1990 through 2015. Mayo Clin Proc. 2019; 94(3): 46571. DOI: 10.1016/j.mayocp.2018.08.041
  30. Carroll A, Dyck PJ, de Carvalho M, Kennerson M, Reilly MM, Kiernan MC, et al. Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis. J Neurol Neurosurg Psychiatry. 2022; 93(6): 66878. DOI: 10.1136/jnnp-2021-327909
  31. Garcia-Pavia P, Rapezzi C, Adler Y, Arad M, Basso C, Brucato A, et al. Diagnosis and treatment of cardiac amyloidosis: a position statement of the ESC Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2021; 42(16): 155468. DOI: 10.1093/eurheartj/ehab072
  32. Gertz M, Adams D, Ando Y, Beirão JM, Bokhari S, Coelho T, et al. Avoiding misdiagnosis: expert consensus recommendations for the suspicion and diagnosis of transthyretin amyloidosis for the general practitioner. BMC Fam Pract. 2020; 21(1): 198. DOI: 10.1186/s12875-020-01252-4
  33. Conceição I, Coelho T, Rapezzi C, Parman Y, Obici L, Galán L, et al. Assessment of patients with hereditary transthyretin amyloidosis - understanding the impact of management and disease progression. Amyloid. 2019; 26(3): 10311. DOI: 10.1080/13506129.2019.1627312
  34. Tian Z, Ren C, Huo L, Li X, Wang YN, Huang L, et al. Wild type transthyretin amyloidosis, a reason not to be forgotten for heart failure of preserved ejection fraction in the elderly. J Geriatr Cardiol. 2020; 17(12): 7936.
  35. Rapezzi C, Lorenzini M, Longhi S, Milandri A, Gagliardi C, Bartolomei I, et al. Cardiac amyloidosis: the great pretender. Heart Fail Rev. 2015; 20(2): 11724. DOI: 10.1007/s10741-015-9480-0
  36. Rozenbaum MH, Large S, Bhambri R, Stewart M, Whelan J, van Doornewaard A, et al. Impact of Delayed Diagnosis and Misdiagnosis for Patients with Transthyretin Amyloid Cardiomyopathy (ATTR-CM): A Targeted Literature Review. Cardiol Ther. 2021; 10(1): 14159. DOI: 10.1007/s40119-021-00219-5
  37. Russo M, Obici L, Bartolomei I, Cappelli F, Luigetti M, Fenu S, et al. ATTRv amyloidosis Italian Registry: clinical and epidemiological data. Amyloid. 2020; 27(4): 25965. DOI: 10.1080/13506129.2020.1794807
  38. González-Moreno J, Losada-López I, Cisneros-Barroso E, Garcia-Pavia P, González-Costello J, Muñoz-Beamud F, et al. A Descriptive Analysis of ATTR Amyloidosis in Spain from the Transthyretin Amyloidosis Outcomes Survey. Neurol Ther. 2021; 10(2): 83345. DOI: 10.1007/s40120-021-00267-y
  39. Hegenbart U, Fuhr N, Huber L, Kimmich C, Veelken K, Dittrich T, et al. Two-Year Evaluation of the German Clinical Amyloidosis Registry. Blood. 2021; 138(Supplement 1): 3780. DOI: 10.1182/blood-2021-152713
  40. Damy T, Adams D, Bridoux F, Grateau G, Planté-Bordeneuve V, Ghiron Y, et al. Amyloidosis from the patient perspective: the French daily impact of amyloidosis study. Amyloid. 2022; 29(3): 16574. DOI: 10.1080/13506129.2022.2035354
  41. Russo M, Gentile L, Di Stefano V, Di Bella G, Minutoli F, Toscano A, et al. Use of Drugs for ATTRv Amyloidosis in the Real World: How Therapy Is Changing Survival in a Non-Endemic Area. Brain Sci. 2021; 11(5). DOI: 10.3390/brainsci11050545
  42. 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; 8(2): 297316. DOI: 10.1007/s40119-019-0142-5
  43. Lauppe RE, Liseth Hansen J, Gerdesköld C, Rozenbaum MH, Strand AM, Vakevainen M, et al. Nationwide prevalence and characteristics of transthyretin amyloid cardiomyopathy in Sweden. Open Heart. 2021; 8(2). DOI: 10.1136/openhrt-2021-001755
  44. Porcari A, Bussani R, Merlo M, Varrà GG, Pagura L, Rozze D, et al. Incidence and Characterization of Concealed Cardiac Amyloidosis Among Unselected Elderly Patients Undergoing Post-mortem Examination. Front Cardiovasc Med. 2021; 8: 749523. DOI: 10.3389/fcvm.2021.749523
  45. Westin O, Butt JH, Gustafsson F, Schou M, Salomo M, Køber L, et al. Two Decades of Cardiac Amyloidosis: A Danish Nationwide Study. JACC CardioOncol. 2021; 3(4): 52233. DOI: 10.1016/j.jaccao.2021.05.004
  46. Takashio S, Tokitsu T, Matsukawa M, Sakaino N, Fujimoto K, Sakamoto T, et al. Incidence, clinical characteristics, and diagnostic approach in transthyretin amyloid cardiomyopathy: The Kumamoto Cardiac Amyloidosis Survey. J Cardiol. 2022; 80(1): 4955. DOI: 10.1016/j.jjcc.2022.01.002
  47. Planté-Bordeneuve V, Suhr OB, Maurer MS, White B, Grogan DR, Coelho T. The Transthyretin Amyloidosis Outcomes Survey (THAOS) registry: design and methodology. Curr Med Res Opin. 2013; 29(1): 7784. DOI: 10.1185/03007995.2012.754349
  48. Dispenzieri A, Coelho T, Conceição I, Waddington-Cruz M, Wixner J, Kristen AV, et al. Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update. Orphanet J Rare Dis. 2022; 17(1): 236. DOI: 10.1186/s13023-022-02359-w
  49. Landrum MJ, Lee JM, Benson M, Brown GR, Chao C, Chitipiralla S, et al. ClinVar: improving access to variant interpretations and supporting evidence. Nucleic Acids Res. 2018; 46(D1): D1062d7. DOI: 10.1093/nar/gkx1153
  50. Rowczenio D, Wechalekar A. Mutations in Hereditary Amyloidosis 2015 Available from: http://amyloidosismutations.com/mut-attr.php November 30, 2022.
  51. Arno S, Cowger J. The genetics of cardiac amyloidosis. Heart Fail Rev. 2022; 27(5): 148592. DOI: 10.1007/s10741-021-10164-z
  52. Obici L, Kuks JB, Buades J, Adams D, Suhr OB, Coelho T, et al. Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis. Curr Opin Neurol. 2016; 29(Suppl 1): S2735. DOI: 10.1097/WCO.0000000000000290
  53. 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; 26(1): 39. DOI: 10.1080/13506129.2018.1556156
  54. Maurer MS, Hanna M, Grogan M, Dispenzieri A, Witteles R, Drachman B, et al. Genotype and Phenotype of Transthyretin Cardiac Amyloidosis: THAOS (Transthyretin Amyloid Outcome Survey). J Am Coll Cardiol. 2016; 68(2): 16172. DOI: 10.1016/j.jacc.2016.03.596
  55. Conceição I, González-Duarte A, Obici L, Schmidt HH, Simoneau D, Ong ML, et al. “Red-flag” symptom clusters in transthyretin familial amyloid polyneuropathy. J Peripher Nerv Syst. 2016; 21(1): 59. DOI: 10.1111/jns.12153
  56. Wisniowski B, Wechalekar A. Confirming the Diagnosis of Amyloidosis. Acta Haematol. 2020; 143(4): 31221. DOI: 10.1159/000508022
  57. Teng C, Li P, Bae JY, Pan S, Dixon RAF, Liu Q. Diagnosis and treatment of transthyretin-related amyloidosis cardiomyopathy. Clin Cardiol. 2020; 43(11): 122331. DOI: 10.1002/clc.23434
  58. Jacobson DR, Pastore RD, Yaghoubian R, Kane I, Gallo G, Buck FS, et al. Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans. N Engl J Med. 1997; 336(7): 46673. DOI: 10.1056/NEJM199702133360703
  59. Svendsen IH, Steensgaard-Hansen F, Nordvåg BY. A clinical, echocardiographic and genetic characterization of a Danish kindred with familial amyloid transthyretin methionine 111 linked cardiomyopathy. Eur Heart J. 1998; 19(5): 7829. DOI: 10.1053/euhj.1997.0841
  60. Sattianayagam PT, Hahn AF, Whelan CJ, Gibbs SD, Pinney JH, Stangou AJ, et al. Cardiac phenotype and clinical outcome of familial amyloid polyneuropathy associated with transthyretin alanine 60 variant. Eur Heart J. 2012; 33(9): 11207. DOI: 10.1093/eurheartj/ehr383
  61. Almeida MR, Hesse A, Steinmetz A, Maisch B, Altland K, Linke RP, et al. Transthyretin Leu 68 in a form of cardiac amyloidosis. Basic Res Cardiol. 1991; 86(6): 56771. DOI: 10.1007/BF02190707
  62. Parker MM, Damrauer SM, Tcheandjieu C, Erbe D, Aldinc E, Hawkins PN, et al. Association of the transthyretin variant V122I with polyneuropathy among individuals of African ancestry. Sci Rep. 2021; 11(1): 11645. DOI: 10.1038/s41598-021-91113-6
  63. Swiecicki PL, Zhen DB, Mauermann ML, Kyle RA, Zeldenrust SR, Grogan M, et al. Hereditary ATTR amyloidosis: a single-institution experience with 266 patients. Amyloid. 2015; 22(2): 12331. DOI: 10.3109/13506129.2015.1019610
  64. Adams D, Algalarrondo V, Polydefkis M, Sarswat N, Slama MS, Nativi-Nicolau J. Expert opinion on monitoring symptomatic hereditary transthyretin-mediated amyloidosis and assessment of disease progression. Orphanet J Rare Dis. 2021; 16(1): 411. DOI: 10.1186/s13023-021-01960-9
  65. Miller AB, Januzzi JL, O’Neill BJ, Gundapaneni B, Patterson TA, Sultan MB, et al. Causes of Cardiovascular Hospitalization and Death in Patients With Transthyretin Amyloid Cardiomyopathy (from the Tafamidis in Transthyretin Cardiomyopathy Clinical Trial [ATTR-ACT]). Am J Cardiol. 2021; 148: 14650. DOI: 10.1016/j.amjcard.2021.02.035
  66. Alcantara M, Mezei MM, Baker SK, Breiner A, Dhawan P, Fiander A, et al. Canadian Guidelines for Hereditary Transthyretin Amyloidosis Polyneuropathy Management. Can J Neurol Sci. 2022; 49(1): 718. DOI: 10.1017/cjn.2021.34
  67. 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; 77(2): 12839. DOI: 10.1016/j.jacc.2020.11.006
  68. 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; 36(38): 258594. DOI: 10.1093/eurheartj/ehv338
  69. Lindmark K, Pilebro B, Sundström T, Lindqvist P. Prevalence of wild type transtyrethin cardiac amyloidosis in a heart failure clinic. ESC Heart Fail. 2021; 8(1): 7459. DOI: 10.1002/ehf2.13110
  70. Maurizi N, Rella V, Fumagalli C, Salerno S, Castelletti S, Dagradi F, et al. Prevalence of cardiac amyloidosis among adult patients referred to tertiary centres with an initial diagnosis of hypertrophic cardiomyopathy. Int J Cardiol. 2020; 300: 1915. DOI: 10.1016/j.ijcard.2019.07.051
  71. Mohammed SF, Mirzoyev SA, Edwards WD, Dogan A, Grogan DR, Dunlay SM, et al. Left ventricular amyloid deposition in patients with heart failure and preserved ejection fraction. JACC Heart Fail. 2014; 2(2): 11322. DOI: 10.1016/j.jchf.2013.11.004
  72. Scully PR, Treibel TA, Fontana M, Lloyd G, Mullen M, Pugliese F, et al. Prevalence of Cardiac Amyloidosis in Patients Referred for Transcatheter Aortic Valve Replacement. J Am Coll Cardiol. 2018; 71(4): 4634. DOI: 10.1016/j.jacc.2017.11.037
  73. Aimo A, Merlo M, Porcari A, Georgiopoulos G, Pagura L, Vergaro G, et al. Redefining the epidemiology of cardiac amyloidosis. A systematic review and meta-analysis of screening studies. Eur J Heart Fail. 2022; 24(12): 234251. DOI: 10.1002/ejhf.2532
  74. 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(14): 135777. DOI: 10.1161/CIRCULATIONAHA.116.024438
  75. 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; 108(12): 132430. DOI: 10.1007/s00392-019-01467-1
  76. Russell A, Hahn C, Chhibber S, Korngut L, Fine NM. Utility of Neuropathy Screening for Wild-Type Transthyretin Amyloidosis Patients. Can J Neurol Sci. 2021; 48(5): 60715. DOI: 10.1017/cjn.2020.271
  77. Yamada T, Takashio S, Arima Y, Nishi M, Morioka M, Hirakawa K, et al. Clinical characteristics and natural history of wild-type transthyretin amyloid cardiomyopathy in Japan. ESC Heart Fail. 2020; 7(5): 282937. DOI: 10.1002/ehf2.12884
  78. Shiozaki T, Sato N, Hayashi T, Kobayashi K, Asamura H. Wild-type ATTR amyloidosis may be associated with unexpected death among the elderly. Leg Med (Tokyo). 2019; 41: 101634. DOI: 10.1016/j.legalmed.2019.101634
  79. Palma JA, Gonzalez-Duarte A, Kaufmann H. Orthostatic hypotension in hereditary transthyretin amyloidosis: epidemiology, diagnosis and management. Clin Auton Res. 2019; 29(Suppl 1): 3344. DOI: 10.1007/s10286-019-00623-x
  80. Galat A, Guellich A, Bodez D, Slama M, Dijos M, Zeitoun DM, et al. Aortic stenosis and transthyretin cardiac amyloidosis: the chicken or the egg? Eur Heart J. 2016; 37(47): 352531. DOI: 10.1093/eurheartj/ehw033
  81. Cappelli F, Vignini E, Martone R, Perlini S, Mussinelli R, Sabena A, et al. Baseline ECG Features and Arrhythmic Profile in Transthyretin Versus Light Chain Cardiac Amyloidosis. Circ Heart Fail. 2020; 13(3):e006619. DOI: 10.1161/CIRCHEARTFAILURE.119.006619
  82. Ternacle J, Krapf L, Mohty D, Magne J, Nguyen A, Galat A, et al. Aortic Stenosis and Cardiac Amyloidosis: JACC Review Topic of the Week. J Am Coll Cardiol. 2019; 74(21): 263851. DOI: 10.1016/j.jacc.2019.09.056
  83. Ternacle J, Bodez D, Guellich A, Audureau E, Rappeneau S, Lim P, et al. Causes and Consequences of Longitudinal LV Dysfunction Assessed by 2D Strain Echocardiography in Cardiac Amyloidosis. JACC Cardiovasc Imaging. 2016; 9(2): 12638. DOI: 10.1016/j.jcmg.2015.05.014
  84. Cheung CC, Roston TM, Andrade JG, Bennett MT, Davis MK. Arrhythmias in Cardiac Amyloidosis: Challenges in Risk Stratification and Treatment. Can J Cardiol. 2020; 36(3): 41623. DOI: 10.1016/j.cjca.2019.11.039
  85. Sanchis K, Cariou E, Colombat M, Ribes D, Huart A, Cintas P, et al. Atrial fibrillation and subtype of atrial fibrillation in cardiac amyloidosis: clinical and echocardiographic features, impact on mortality. Amyloid. 2019; 26(3): 12838. DOI: 10.1080/13506129.2019.1620724
  86. 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; 5(5): 7729. DOI: 10.1002/ehf2.12308
  87. Irabor B, McMillan JM, Fine NM. Assessment and Management of Older Patients With Transthyretin Amyloidosis Cardiomyopathy: Geriatric Cardiology, Frailty Assessment and Beyond. Front Cardiovasc Med. 2022; 9: 863179. DOI: 10.3389/fcvm.2022.863179
  88. Brunjes DL, Castano A, Clemons A, Rubin J, Maurer MS. Transthyretin Cardiac Amyloidosis in Older Americans. J Card Fail. 2016; 22(12): 9961003. DOI: 10.1016/j.cardfail.2016.10.008
  89. Hubert E, Dains JE. The Role of Echocardiogram and Cardiac Rhythm Analysis for Early Detection of Cardiac Amyloidosis. J Adv Pract Oncol. 2022; 13(7): 695704. DOI: 10.6004/jadpro.2022.13.7.5
  90. Ng PLF, Lim YC, Evangelista LKM, Wong RCC, Chai P, Sia CH, et al. Utility and pitfalls of the electrocardiogram in the evaluation of cardiac amyloidosis. Ann Noninvasive Electrocardiol. 2022; 27(4):e12967. DOI: 10.1111/anec.12967
  91. Damy T, Maurer MS, Rapezzi C, Planté-Bordeneuve V, Karayal ON, Mundayat R, et al. Clinical, ECG and echocardiographic clues to the diagnosis of TTR-related cardiomyopathy. Open Heart. 2016; 3(1):e000289. DOI: 10.1136/openhrt-2015-000289
  92. Rapezzi C, Quarta CC, Obici L, Perfetto F, Longhi S, Salvi F, et al. Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective. Eur Heart J. 2013; 34(7): 5208. DOI: 10.1093/eurheartj/ehs123
  93. Sperry BW, Vranian MN, Hachamovitch R, Joshi H, McCarthy M, Ikram A, et al. Are classic predictors of voltage valid in cardiac amyloidosis? A contemporary analysis of electrocardiographic findings. Int J Cardiol. 2016; 214: 47781. DOI: 10.1016/j.ijcard.2016.04.030
  94. Cyrille NB, Goldsmith J, Alvarez J, Maurer MS. Prevalence and prognostic significance of low QRS voltage among the three main types of cardiac amyloidosis. Am J Cardiol. 2014; 114(7): 108993. DOI: 10.1016/j.amjcard.2014.07.026
  95. Cheng Z, Zhu K, Tian Z, Zhao D, Cui Q, Fang Q. The findings of electrocardiography in patients with cardiac amyloidosis. Ann Noninvasive Electrocardiol. 2013; 18(2): 15762. DOI: 10.1111/anec.12018
  96. Dungu J, Sattianayagam PT, Whelan CJ, Gibbs SD, Pinney JH, Banypersad SM, et al. The electrocardiographic features associated with cardiac amyloidosis of variant transthyretin isoleucine 122 type in Afro-Caribbean patients. Am Heart J. 2012; 164(1): 729. DOI: 10.1016/j.ahj.2012.04.013
  97. Schrutka L, Anner P, Agibetov A, Seirer B, Dusik F, Rettl R, et al. Machine learning-derived electrocardiographic algorithm for the detection of cardiac amyloidosis. Heart. 2022; 108(14): 113747. DOI: 10.1136/heartjnl-2021-319846
  98. 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; 70(4): 46677. DOI: 10.1016/j.jacc.2017.05.053
  99. Martinez-Naharro A, Baksi AJ, Hawkins PN, Fontana M. Diagnostic imaging of cardiac amyloidosis. Nat Rev Cardiol. 2020; 17(7): 41326. DOI: 10.1038/s41569-020-0334-7
  100. Rapezzi C, Fontana M. Relative Left Ventricular Apical Sparing of Longitudinal Strain in Cardiac Amyloidosis: Is it Just Amyloid Infiltration? JACC Cardiovasc Imaging. 2019; 12(7 Pt 1): 11746. DOI: 10.1016/j.jcmg.2018.07.007
  101. Witteles RM, Bokhari S, Damy T, Elliott PM, Falk RH, Fine NM, et al. Screening for Transthyretin Amyloid Cardiomyopathy in Everyday Practice. JACC Heart Fail. 2019; 7(8): 70916. DOI: 10.1016/j.jchf.2019.04.010
  102. Kittleson MM, Maurer MS, Ambardekar AV, Bullock-Palmer RP, Chang PP, Eisen HJ, et al. Cardiac Amyloidosis: Evolving Diagnosis and Management: A Scientific Statement From the American Heart Association. Circulation. 2020; 142(1): e7e22. DOI: 10.1161/CIR.0000000000000792
  103. 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 1 of 2-evidence base and standardized methods of imaging. J Nucl Cardiol. 2019; 26(6): 2065123. DOI: 10.1007/s12350-019-01760-6
  104. 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 Nucl Cardiol. 2020; 27(2): 65973. DOI: 10.1007/s12350-019-01761-5
  105. Knight DS, Zumbo G, Barcella W, Steeden JA, Muthurangu V, Martinez-Naharro A, et al. Cardiac Structural and Functional Consequences of Amyloid Deposition by Cardiac Magnetic Resonance and Echocardiography and Their Prognostic Roles. JACC Cardiovasc Imaging. 2019; 12(5): 82333. DOI: 10.1016/j.jcmg.2018.02.016
  106. Pagourelias ED, Mirea O, Duchenne J, Van Cleemput J, Delforge M, Bogaert J, et al. Echo Parameters for Differential Diagnosis in Cardiac Amyloidosis: A Head-to-Head Comparison of Deformation and Nondeformation Parameters. Circ Cardiovasc Imaging. 2017; 10(3):e005588. DOI: 10.1161/CIRCIMAGING.116.005588
  107. Di Bella G, Pizzino F, Minutoli F, Zito C, Donato R, Dattilo G, et al. The mosaic of the cardiac amyloidosis diagnosis: role of imaging in subtypes and stages of the disease. European Heart Journal - Cardiovascular Imaging. 2014; 15(12): 130715. DOI: 10.1093/ehjci/jeu158
  108. Di Nunzio D, Recupero A, de Gregorio C, Zito C, Carerj S, Di Bella G. Echocardiographic Findings in Cardiac Amyloidosis: Inside Two-Dimensional, Doppler, and Strain Imaging. Curr Cardiol Rep. 2019; 21(2): 7. DOI: 10.1007/s11886-019-1094-z
  109. Boldrini M, Cappelli F, Chacko L, Restrepo-Cordoba MA, Lopez-Sainz A, Giannoni A, et al. Multiparametric Echocardiography Scores for the Diagnosis of Cardiac Amyloidosis. JACC Cardiovasc Imaging. 2020; 13(4): 90920. DOI: 10.1016/j.jcmg.2019.10.011
  110. Aimo A, Chubuchny V, Vergaro G, Barison A, Nicol M, Cohen-Solal A, et al. A simple echocardiographic score to rule out cardiac amyloidosis. Eur J Clin Invest. 2021; 51(5):e13449. DOI: 10.1111/eci.13449
  111. Scheel PJ, 3rd, Mukherjee M, Hays AG, Vaishnav J. Multimodality Imaging in the Evaluation and Prognostication of Cardiac Amyloidosis. Front Cardiovasc Med. 2022; 9: 787618. DOI: 10.3389/fcvm.2022.787618
  112. Goto S, Mahara K, Beussink-Nelson L, Ikura H, Katsumata Y, Endo J, et al. Artificial intelligence-enabled fully automated detection of cardiac amyloidosis using electrocardiograms and echocardiograms. Nat Commun. 2021; 12(1): 2726. DOI: 10.1038/s41467-021-22877-8
  113. Fontana M, Chung R, Hawkins PN, Moon JC. Cardiovascular magnetic resonance for amyloidosis. Heart Fail Rev. 2015; 20(2): 13344. DOI: 10.1007/s10741-014-9470-7
  114. Fontana M, Pica S, Reant P, Abdel-Gadir A, Treibel TA, Banypersad SM, et al. Prognostic Value of Late Gadolinium Enhancement Cardiovascular Magnetic Resonance in Cardiac Amyloidosis. Circulation. 2015; 132(16): 15709. DOI: 10.1161/CIRCULATIONAHA.115.016567
  115. Wan K, Sun J, Han Y, Luo Y, Liu H, Yang D, et al. Right ventricular involvement evaluated by cardiac magnetic resonance imaging predicts mortality in patients with light chain amyloidosis. Heart Vessels. 2018; 33(2): 1709. DOI: 10.1007/s00380-017-1043-y
  116. 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; 12(5): 8109. DOI: 10.1016/j.jcmg.2018.02.006
  117. 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; 13(1 Pt 1): 6980. DOI: 10.1016/j.jcmg.2019.03.026
  118. Banypersad SM, Fontana M, Maestrini V, Sado DM, Captur G, Petrie A, et al. T1 mapping and survival in systemic light-chain amyloidosis. Eur Heart J. 2015; 36(4): 24451. DOI: 10.1093/eurheartj/ehu444
  119. Karamitsos TD, Piechnik SK, Banypersad SM, Fontana M, Ntusi NB, Ferreira VM, et al. Noncontrast T1 mapping for the diagnosis of cardiac amyloidosis. JACC Cardiovasc Imaging. 2013; 6(4): 48897. DOI: 10.1016/j.jcmg.2012.11.013
  120. Brownrigg J, Lorenzini M, Lumley M, Elliott P. Diagnostic performance of imaging investigations in detecting and differentiating cardiac amyloidosis: a systematic review and meta-analysis. ESC Heart Fail. 2019; 6(5): 104151. DOI: 10.1002/ehf2.12511
  121. Dorbala S, Cuddy S, Falk RH. How to Image Cardiac Amyloidosis: A Practical Approach. JACC Cardiovasc Imaging. 2020; 13(6): 136883. DOI: 10.1016/j.jcmg.2019.07.015
  122. Kellman P, Hansen MS, Nielles-Vallespin S, Nickander J, Themudo R, Ugander M, et al. Myocardial perfusion cardiovascular magnetic resonance: optimized dual sequence and reconstruction for quantification. J Cardiovasc Magn Reson. 2017; 19(1): 43. DOI: 10.1186/s12968-017-0355-5
  123. Nordlinger M, Magnani B, Skinner M, Falk RH. Is elevated plasma B-natriuretic peptide in amyloidosis simply a function of the presence of heart failure? Am J Cardiol. 2005; 96(7): 9824. DOI: 10.1016/j.amjcard.2005.05.057
  124. Fine NM, Davis MK, Anderson K, Delgado DH, Giraldeau G, Kitchlu A, et al. Canadian Cardiovascular Society/Canadian Heart Failure Society Joint Position Statement on the Evaluation and Management of Patients With Cardiac Amyloidosis. Can J Cardiol. 2020; 36(3): 32234. DOI: 10.1016/j.cjca.2019.12.034
  125. Kitaoka H, Izumi C, Izumiya Y, Inomata T, Ueda M, Kubo T, et al. JCS 2020 Guideline on Diagnosis and Treatment of Cardiac Amyloidosis. Circ J. 2020; 84(9): 161071. DOI: 10.1253/circj.CJ-20-0110
  126. Gillmore JD, Maurer MS, Falk RH, Merlini G, Damy T, Dispenzieri A, et al. Nonbiopsy Diagnosis of Cardiac Transthyretin Amyloidosis. Circulation. 2016; 133(24): 240412. DOI: 10.1161/CIRCULATIONAHA.116.021612
  127. Paeng JC, Choi JY. Nuclear Imaging for Cardiac Amyloidosis: Bone Scan, SPECT/CT, and Amyloid-Targeting PET. Nucl Med Mol Imaging. 2021; 55(2): 6170. DOI: 10.1007/s13139-020-00681-4
  128. Bokhari S, Shahzad R, Castaño A, Maurer MS. Nuclear imaging modalities for cardiac amyloidosis. J Nucl Cardiol. 2014; 21(1): 17584. DOI: 10.1007/s12350-013-9803-2
  129. 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; 46(6): 107684. DOI: 10.1016/j.jacc.2005.05.073
  130. Rapezzi C, Aimo A, Serenelli M, Barison A, Vergaro G, Passino C, et al. Critical Comparison of Documents From Scientific Societies on Cardiac Amyloidosis: JACC State-of-the-Art Review. J Am Coll Cardiol. 2022; 79(13): 1288303. DOI: 10.1016/j.jacc.2022.01.036
  131. Kupitz D, Wissel H, Wuestemann J, Bluemel S, Pech M, Amthauer H, et al. Optimization of SPECT/CT imaging protocols for quantitative and qualitative (99m)Tc SPECT. EJNMMI Phys. 2021; 8(1): 57. DOI: 10.1186/s40658-021-00405-3
  132. Cappelli F, Gallini C, Di Mario C, Costanzo EN, Vaggelli L, Tutino F, et al. Accuracy of 99mTc-Hydroxymethylene diphosphonate scintigraphy for diagnosis of transthyretin cardiac amyloidosis. J Nucl Cardiol. 2019; 26(2): 497504. DOI: 10.1007/s12350-017-0922-z
  133. 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): 21020. DOI: 10.3109/13506129.2015.1072089
  134. 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; 21(1): 3544. DOI: 10.3109/13506129.2013.871250
  135. Gnanasegaran G, Cook G, Adamson K, Fogelman I. Patterns, variants, artifacts, and pitfalls in conventional radionuclide bone imaging and SPECT/CT. Semin Nucl Med. 2009; 39(6): 38095. DOI: 10.1053/j.semnuclmed.2009.07.003
  136. Vallabhajosula S, Killeen RP, Osborne JR. Altered biodistribution of radiopharmaceuticals: role of radiochemical/pharmaceutical purity, physiological, and pharmacologic factors. Semin Nucl Med. 2010; 40(4): 22041. DOI: 10.1053/j.semnuclmed.2010.02.004
  137. Qutbi M, Shafiei B, Khoshbakht S, Asadi A, Neshandar Asli I. An Unexpected and Less Recognized Altered Distribution on Bone Scintigraphy; Possibility of 99mTc-Dextrose Complex as a Cause. Clin Nucl Med. 2017; 42(12): 9527. DOI: 10.1097/RLU.0000000000001857
  138. Meristoudis G, Ilias I, Keramida G. Potential diagnostic pitfalls of bone scintigraphy in transthyretin-related amyloidosis. World J Nucl Med. 2020; 19(3): 3134. DOI: 10.4103/wjnm.WJNM_25_20
  139. Chimenti C, Alfarano M, Maestrini V, Galea N, De Vincentis G, Verardo R, et al. False-positive bone scintigraphy denoting transthyretin amyloid in elderly hypertrophic cardiomyopathy. ESC Heart Fail. 2021; 8(4): 338791. DOI: 10.1002/ehf2.13339
  140. 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; 12(9):e006075. DOI: 10.1161/CIRCHEARTFAILURE.119.006075
  141. Tahara N, Lairez O, Endo J, Okada A, Ueda M, Ishii T, et al. (99m) Technetium-pyrophosphate scintigraphy: a practical guide for early diagnosis of transthyretin amyloid cardiomyopathy. ESC Heart Fail. 2022; 9(1): 25162. DOI: 10.1002/ehf2.13693
  142. Rosengren S, Skibsted Clemmensen T, Tolbod L, Granstam SO, Eiskjær H, Wikström G, et al. Diagnostic Accuracy of [(11)C]PIB Positron Emission Tomography for Detection of Cardiac Amyloidosis. JACC Cardiovasc Imaging. 2020; 13(6): 133747. DOI: 10.1016/j.jcmg.2020.02.023
  143. Law WP, Wang WY, Moore PT, Mollee PN, Ng AC. Cardiac Amyloid Imaging with 18F-Florbetaben PET: A Pilot Study. J Nucl Med. 2016; 57(11): 17339. DOI: 10.2967/jnumed.115.169870
  144. Park MA, Padera RF, Belanger A, Dubey S, Hwang DH, Veeranna V, et al. 18F-Florbetapir Binds Specifically to Myocardial Light Chain and Transthyretin Amyloid Deposits: Autoradiography Study. Circ Cardiovasc Imaging. 2015; 8(8). DOI: 10.1161/CIRCIMAGING.114.002954
  145. 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; 87(8): 77381. DOI: 10.1212/WNL.0000000000003001
  146. Ezawa N, Katoh N, Oguchi K, Yoshinaga T, Yazaki M, Sekijima Y. Visualization of multiple organ amyloid involvement in systemic amyloidosis using (11)C-PiB PET imaging. Eur J Nucl Med Mol Imaging. 2018; 45(3): 45261. DOI: 10.1007/s00259-017-3814-1
  147. Kircher M, Ihne S, Brumberg J, Morbach C, Knop S, Kortüm KM, et al. Detection of cardiac amyloidosis with (18)F-Florbetaben-PET/CT in comparison to echocardiography, cardiac MRI and DPD-scintigraphy. Eur J Nucl Med Mol Imaging. 2019; 46(7): 140716. DOI: 10.1007/s00259-019-04290-y
  148. Castiglione V, Franzini M, Aimo A, Carecci A, Lombardi CM, Passino C, et al. Use of biomarkers to diagnose and manage cardiac amyloidosis. Eur J Heart Fail. 2021; 23(2): 21730. DOI: 10.1002/ejhf.2113
  149. 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; 68(10): 101420. DOI: 10.1016/j.jacc.2016.06.033
  150. 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; 39(30): 2799806. DOI: 10.1093/eurheartj/ehx589
  151. Oghina S, Josse C, Bézard M, Kharoubi M, Delbarre MA, Eyharts D, et al. Prognostic Value of N-Terminal Pro-Brain Natriuretic Peptide and High-Sensitivity Troponin T Levels in the Natural History of Transthyretin Amyloid Cardiomyopathy and Their Evolution after Tafamidis Treatment. J Clin Med. 2021; 10(21). DOI: 10.3390/jcm10214868
  152. Ladefoged BT, Dybro A, Dahl Pedersen AL, Rasmussen TB, Vase H, Clemmensen TS, et al. Incidence and predictors of worsening heart failure in patients with wild-type transthyretin cardiac amyloidosis. ESC Heart Fail. 2022. DOI: 10.1002/ehf2.14000
  153. Sammani A, Jansen M, de Vries NM, de Jonge N, Baas AF, Te Riele A, et al. Automatic Identification of Patients With Unexplained Left Ventricular Hypertrophy in Electronic Health Record Data to Improve Targeted Treatment and Family Screening. Front Cardiovasc Med. 2022; 9: 768847. DOI: 10.3389/fcvm.2022.768847
  154. Groenewegen A, Rutten FH, Mosterd A, Hoes AW. Epidemiology of heart failure. Eur J Heart Fail. 2020; 22(8): 134256. DOI: 10.1002/ejhf.1858
  155. 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; 12(6):e005407. DOI: 10.1161/CIRCHEARTFAILURE.118.005407
  156. Dungu JN, Papadopoulou SA, Wykes K, Mahmood I, Marshall J, Valencia O, et al. Afro-Caribbean Heart Failure in the United Kingdom: Cause, Outcomes, and ATTR V122I Cardiac Amyloidosis. Circ Heart Fail. 2016; 9(9). DOI: 10.1161/CIRCHEARTFAILURE.116.003352
  157. Lo Presti S, Horvath SA, Mihos CG, Rajadhyaksha C, McCloskey V, Santana O. Transthyretin Cardiac Amyloidosis as Diagnosed by 99mTc-PYP Scanning in Patients with Acute Heart Failure and Preserved Ejection Fraction. Crit Pathw Cardiol. 2019; 18(4): 1959. DOI: 10.1097/HPC.0000000000000183
  158. Devesa A, Camblor Blasco A, Pello Lázaro AM, Askari E, Lapeña G, Gómez Talavera S, et al. Prevalence of transthyretin amyloidosis in patients with heart failure and no left ventricular hypertrophy. ESC Heart Fail. 2021; 8(4): 285665. DOI: 10.1002/ehf2.13360
  159. López-Sainz Á, de Haro-Del Moral FJ, Dominguez F, Restrepo-Cordoba A, Amor-Salamanca A, Hernandez-Hernandez A, et al. Prevalence of cardiac amyloidosis among elderly patients with systolic heart failure or conduction disorders. Amyloid. 2019; 26(3): 15663. DOI: 10.1080/13506129.2019.1625322
  160. Goland S, Volodarsky I, Fabricant Y, Livschitz S, Tshori S, Cuciuc V, et al. Wild-type TTR amyloidosis among patients with unexplained heart failure and systolic LV dysfunction. PLoS One. 2021; 16(7):e0254104. DOI: 10.1371/journal.pone.0254104
  161. Canepa M, Fumagalli C, Tini G, Vincent-Tompkins J, Day SM, Ashley EA, et al. Temporal Trend of Age at Diagnosis in Hypertrophic Cardiomyopathy: An Analysis of the International Sarcomeric Human Cardiomyopathy Registry. Circ Heart Fail. 2020; 13(9):e007230. DOI: 10.1161/CIRCHEARTFAILURE.120.007230
  162. Cardim N, Brito D, Rocha Lopes L, Freitas A, Araújo C, Belo A, et al. The Portuguese Registry of Hypertrophic Cardiomyopathy: Overall results. Revista Portuguesa de Cardiologia. 2018; 37(1): 110. DOI: 10.1016/j.repc.2017.08.005
  163. Damy T, Costes B, Hagège AA, Donal E, Eicher JC, Slama M, et al. Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness. Eur Heart J. 2016; 37(23): 182634. DOI: 10.1093/eurheartj/ehv583
  164. Cavalcante JL, Rijal S, Abdelkarim I, Althouse AD, Sharbaugh MS, Fridman Y, et al. Cardiac amyloidosis is prevalent in older patients with aortic stenosis and carries worse prognosis. J Cardiovasc Magn Reson. 2017; 19(1): 98. DOI: 10.1186/s12968-017-0415-x
  165. Audet A, Côté N, Couture C, Bossé Y, Després JP, Pibarot P, et al. Amyloid substance within stenotic aortic valves promotes mineralization. Histopathology. 2012; 61(4): 6109. DOI: 10.1111/j.1365-2559.2012.04265.x
  166. Treibel TA, Fontana M, Gilbertson JA, Castelletti S, White SK, Scully PR, et al. Occult Transthyretin Cardiac Amyloid in Severe Calcific Aortic Stenosis: Prevalence and Prognosis in Patients Undergoing Surgical Aortic Valve Replacement. Circ Cardiovasc Imaging. 2016; 9(8). DOI: 10.1161/CIRCIMAGING.116.005066
  167. Singal AK, Bansal R, Singh A, Dorbala S, Sharma G, Gupta K, et al. Concomitant Transthyretin Amyloidosis and Severe Aortic Stenosis in Elderly Indian Population: A Pilot Study. JACC CardioOncol. 2021; 3(4): 56576. DOI: 10.1016/j.jaccao.2021.08.008
  168. Tini G, Sessarego E, Benenati S, Vianello PF, Musumeci B, Autore C, et al. Yield of bone scintigraphy screening for transthyretin-related cardiac amyloidosis in different conditions: Methodological issues and clinical implications. Eur J Clin Invest. 2021; 51(12):e13665. DOI: 10.1111/eci.13665
  169. Rapezzi C, Merlini G, Quarta CC, Riva L, Longhi S, Leone O, et al. Systemic cardiac amyloidoses: disease profiles and clinical courses of the 3 main types. Circulation. 2009; 120(13): 120312. DOI: 10.1161/CIRCULATIONAHA.108.843334
  170. Fosbøl EL, Rørth R, Leicht BP, Schou M, Maurer MS, Kristensen SL, et al. Association of Carpal Tunnel Syndrome With Amyloidosis, Heart Failure, and Adverse Cardiovascular Outcomes. J Am Coll Cardiol. 2019; 74(1): 1523. DOI: 10.1016/j.jacc.2019.04.054
  171. Milandri A, Farioli A, Gagliardi C, Longhi S, Salvi F, Curti S, et al. Carpal tunnel syndrome in cardiac amyloidosis: implications for early diagnosis and prognostic role across the spectrum of aetiologies. Eur J Heart Fail. 2020; 22(3): 50715. DOI: 10.1002/ejhf.1742
  172. Zegri-Reiriz I, de Haro-Del Moral FJ, Dominguez F, Salas C, de la Cuadra P, Plaza A, et al. Prevalence of Cardiac Amyloidosis in Patients with Carpal Tunnel Syndrome. J Cardiovasc Transl Res. 2019; 12(6): 50713. DOI: 10.1007/s12265-019-09895-0
  173. Vianello PF, La Malfa G, Tini G, Mazzola V, Miceli A, Santolini E, et al. Prevalence of transthyretin amyloid cardiomyopathy in male patients who underwent bilateral carpal tunnel surgery: The ACTUAL study. Int J Cardiol. 2021; 329: 1447. DOI: 10.1016/j.ijcard.2020.12.044
  174. Rossi M, Varrà GG, Porcari A, Saro R, Pagura L, Lalario A, et al. Re-Definition of the Epidemiology of Cardiac Amyloidosis. Biomedicines. 2022; 10(7). DOI: 10.3390/biomedicines10071566
  175. Merlo M, Porcari A, Pagura L, Cameli M, Vergaro G, Musumeci B, et al. A national survey on prevalence of possible echocardiographic red flags of amyloid cardiomyopathy in consecutive patients undergoing routine echocardiography: study design and patients characterization - the first insight from the AC-TIVE Study. Eur J Prev Cardiol. 2022; 29(5): e173e7. DOI: 10.1093/eurjpc/zwab127
  176. Merlo M, Pagura L, Porcari A, Cameli M, Vergaro G, Musumeci B, et al. Unmasking the prevalence of amyloid cardiomyopathy in the real world: results from Phase 2 of the AC-TIVE study, an Italian nationwide survey. Eur J Heart Fail. 2022; 24(8): 137786. DOI: 10.1002/ejhf.2504
  177. Wale DJ, Wong KK, Savas H, Kandathil A, Piert M, Brown RK. Extraosseous Findings on Bone Scintigraphy Using Fusion SPECT/CT and Correlative Imaging. AJR Am J Roentgenol. 2015; 205(1): 16072. DOI: 10.2214/AJR.14.13914
  178. Zuckier LS, Freeman LM. Nonosseous, nonurologic uptake on bone scintigraphy: atlas and analysis. Semin Nucl Med. 2010; 40(4): 24256. DOI: 10.1053/j.semnuclmed.2010.02.003
  179. 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(25): 2414. DOI: 10.1093/eurheartj/ehaa091
  180. 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; 7(5): 5312. DOI: 10.1016/j.jcmg.2014.03.004
  181. Bianco M, Parente A, Biolè C, Righetti C, Spirito A, Luciano A, et al. The prevalence of TTR cardiac amyloidosis among patients undergoing bone scintigraphy. J Nucl Cardiol. 2021; 28(3): 82530. DOI: 10.1007/s12350-021-02575-0
  182. Cuscaden C, Ramsay SC, Prasad S, Goodwin B, Smith J. Estimation of prevalence of transthyretin (ATTR) cardiac amyloidosis in an Australian subpopulation using bone scans with echocardiography and clinical correlation. J Nucl Cardiol. 2021; 28(6): 284556. DOI: 10.1007/s12350-020-02152-x
  183. 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; 270: 1926. DOI: 10.1016/j.ijcard.2018.06.006
  184. Kim HM, Sohn DW, Paeng JC. Prevalence of Positive (99 m)Tc-DPD Scintigraphy as an Indicator of the Prevalence of Wild-type Transthyretin Amyloidosis in the Elderly. Int Heart J. 2019; 60(3): 6437. DOI: 10.1536/ihj.18-345
  185. Delaney FT, Dempsey P, Welaratne I, Buckley B, O’Sullivan D, O’Connell M. Incidental cardiac uptake in bone scintigraphy: increased importance and association with cardiac amyloidosis. BJR Case Rep. 2021; 7(3): 20200161. DOI: 10.1259/bjrcr.20200161
  186. Fathala A. Incidentally detected cardiac amyloidosis on (99m)Tc-MDP bone scintigraphy. Radiol Case Rep. 2020; 15(6): 7058. DOI: 10.1016/j.radcr.2020.03.010
  187. Mattana F, Muraglia L, Girardi F, Cerio I, Porcari A, Dore F, et al. Clinical application of cardiac scintigraphy with bone tracers: controversies and pitfalls in cardiac amyloidosis. Vessel Plus. 2022; 6: 13. DOI: 10.20517/2574-1209.2021.87
  188. Gonzalez-Lopez E, Escobar-Lopez L, Obici L, Saturi G, Bezard M, Saith SE, et al. Prognosis of Transthyretin Cardiac Amyloidosis Without Heart Failure Symptoms. JACC CardioOncol. 2022; 4(4): 44254. DOI: 10.1016/j.jaccao.2022.07.007
  189. Kittleson MM, Ruberg FL, Ambardekar AV, Brannagan TH, Cheng RK, Clarke JO, et al. 2023 ACC Expert Consensus Decision Pathway on Comprehensive Multidisciplinary Care for the Patient With Cardiac Amyloidosis: A Report of the American College of Cardiology Solution Set Oversight Committee. J Am Coll Cardiol. 2023. DOI: 10.1016/j.jacc.2022.11.022
  190. Quarta CC, Zheng J, Hutt D, Grigore SF, Manwani R, Sachchithanantham S, et al. 99mTc-DPD scintigraphy in immunoglobulin light chain (AL) cardiac amyloidosis. Eur Heart J Cardiovasc Imaging. 2021; 22(11): 130411. DOI: 10.1093/ehjci/jeab095
  191. Sidiqi MH, McPhail ED, Theis JD, Dasari S, Vrana JA, Drosou ME, et al. Two types of amyloidosis presenting in a single patient: a case series. Blood Cancer J. 2019; 9(3): 30. DOI: 10.1038/s41408-019-0193-9
  192. 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; 75(22): 285162. DOI: 10.1016/j.jacc.2020.04.022
  193. Witteles RM, Liedtke M. Avoiding Catastrophe: Understanding Free Light Chain Testing in the Evaluation of ATTR Amyloidosis. Circ Heart Fail. 2021; 14(4):e008225. DOI: 10.1161/CIRCHEARTFAILURE.120.008225
  194. Muchtar E, Gertz MA, Kyle RA, Lacy MQ, Dingli D, Leung N, et al. A Modern Primer on Light Chain Amyloidosis in 592 Patients With Mass Spectrometry-Verified Typing. Mayo Clin Proc. 2019; 94(3): 47283. DOI: 10.1016/j.mayocp.2018.08.006
  195. Maestro-Benedicto A, Vela P, de Frutos F, Mora N, Pomares A, Gonzalez-Vioque E, et al. Frequency of hereditary transthyretin amyloidosis among elderly patients with transthyretin cardiomyopathy. Eur J Heart Fail. 2022. DOI: 10.1002/ejhf.2658
  196. Ladefoged B, Dybro A, Povlsen JA, Vase H, Clemmensen TS, Poulsen SH. Diagnostic delay in wild type transthyretin cardiac amyloidosis - A clinical challenge. Int J Cardiol. 2020; 304: 13843. DOI: 10.1016/j.ijcard.2019.12.063
  197. Bishop E, Brown EE, Fajardo J, Barouch LA, Judge DP, Halushka MK. Seven factors predict a delayed diagnosis of cardiac amyloidosis. Amyloid. 2018; 25(3): 1749. DOI: 10.1080/13506129.2018.1498782
  198. Papoutsidakis N, Miller EJ, Rodonski A, Jacoby D. Time Course of Common Clinical Manifestations in Patients with Transthyretin Cardiac Amyloidosis: Delay From Symptom Onset to Diagnosis. J Card Fail. 2018; 24(2): 1313. DOI: 10.1016/j.cardfail.2017.12.005
  199. López-Sainz Á, Hernandez-Hernandez A, Gonzalez-Lopez E, Domínguez F, Restrepo-Cordoba MA, Cobo-Marcos M, et al. Clinical profile and outcome of cardiac amyloidosis in a Spanish referral center. Rev Esp Cardiol (Engl Ed). 2021; 74(2): 14958. DOI: 10.1016/j.rec.2019.12.020
  200. Ioannou A, Patel RK, Razvi Y, Porcari A, Sinagra G, Venneri L, et al. Impact of Earlier Diagnosis in Cardiac ATTR Amyloidosis Over the Course of 20 Years. Circulation. 2022; 146(22): 165770. DOI: 10.1161/CIRCULATIONAHA.122.060852
  201. Kazi DS, Bellows BK, Baron SJ, Shen C, Cohen DJ, Spertus JA, et al. Cost-Effectiveness of Tafamidis Therapy for Transthyretin Amyloid Cardiomyopathy. Circulation. 2020; 141(15): 121424. DOI: 10.1161/CIRCULATIONAHA.119.045093
  202. Cappelli F, Martone R, Gabriele M, Taborchi G, Morini S, Vignini E, et al. Biomarkers and Prediction of Prognosis in Transthyretin-Related Cardiac Amyloidosis: Direct Comparison of Two Staging Systems. Can J Cardiol. 2020; 36(3): 42431. DOI: 10.1016/j.cjca.2019.12.020
  203. Law S, Petrie A, Chacko L, Cohen OC, Ravichandran S, Gilbertson JA, et al. Change in N-terminal pro-B-type natriuretic peptide at 1 year predicts mortality in wild-type transthyretin amyloid cardiomyopathy. Heart. 2022; 108(6): 4748. DOI: 10.1136/heartjnl-2021-319063
  204. Chacko L, Karia N, Venneri L, Bandera F, Passo BD, Buonamici L, et al. Progression of echocardiographic parameters and prognosis in transthyretin cardiac amyloidosis. Eur J Heart Fail. 2022. DOI: 10.1002/ejhf.2606
  205. Garcia-Pavia P, Bengel F, Brito D, Damy T, Duca F, Dorbala S, et al. Expert consensus on the monitoring of transthyretin amyloid cardiomyopathy. Eur J Heart Fail. 2021; 23(6): 895905. DOI: 10.1002/ejhf.2198
  206. Grandis M, Obici L, Luigetti M, Briani C, Benedicenti F, Bisogni G, et al. Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus. Orphanet J Rare Dis. 2020; 15(1): 348. DOI: 10.1186/s13023-020-01633-z
  207. Cantone A, Sanguettoli F, Dal Passo B, Serenelli M, Rapezzi C. The treatment of amyloidosis is being refined. Eur Heart J Suppl. 2022; 24(Suppl I): I131i8. DOI: 10.1093/eurheartjsupp/suac104
  208. Healthline Media. 8 Natural and Complementary Therapies for Amyloidosis, 2003 Available from: https://www.healthline.com/health/amyloidosis/natural-therapies-for-amyloidosis December 26, 2022.
  209. Emdin M, Aimo A, Rapezzi C, Fontana M, Perfetto F, Seferović PM, et al. Treatment of cardiac transthyretin amyloidosis: an update. Eur Heart J. 2019; 40(45): 3699706. DOI: 10.1093/eurheartj/ehz298
  210. Adam RD, Coriu D, Jercan A, Bădeliţă S, Popescu BA, Damy T, et al. Progress and challenges in the treatment of cardiac amyloidosis: a review of the literature. ESC Heart Fail. 2021; 8(4): 238096. DOI: 10.1002/ehf2.13443
  211. Siddiqi OK, Ruberg FL. Cardiac amyloidosis: An update on pathophysiology, diagnosis, and treatment. Trends Cardiovasc Med. 2018; 28(1): 1021. DOI: 10.1016/j.tcm.2017.07.004
  212. Muchtar E, Gertz MA, Kumar SK, Lin G, Boilson B, Clavell A, et al. Digoxin use in systemic light-chain (AL) amyloidosis: contra-indicated or cautious use? Amyloid. 2018; 25(2): 8692. DOI: 10.1080/13506129.2018.1449744
  213. Heidenreich PA, Bozkurt B, Aguilar D, Allen LA, Byun JJ, Colvin MM, et al. 2022 AHA/ACC/HFSA Guideline for the Management of Heart Failure: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines. Circulation. 2022; 145(18): e895e1032. DOI: 10.1161/CIR.0000000000001073
  214. Dobner S, Bernhard B, Asatryan B, Windecker S, Stortecky S, Pilgrim T, et al. SGLT2 inhibitor therapy for transthyretin amyloid cardiomyopathy: early tolerance and clinical response to dapagliflozin. ESC Heart Fail. 2023; 10(1): 397404. DOI: 10.1002/ehf2.14188
  215. Donnellan E, Wazni O, Kanj M, Elshazly MB, Hussein A, Baranowski B, et al. Atrial fibrillation ablation in patients with transthyretin cardiac amyloidosis. Europace. 2020; 22(2): 25964. DOI: 10.1093/europace/euz314
  216. Black-Maier E, Rehorn M, Loungani R, Friedman DJ, Alenezi F, Geurink K, et al. Catheter ablation of atrial fibrillation in cardiac amyloidosis. Pacing Clin Electrophysiol. 2020; 43(9): 91321. DOI: 10.1111/pace.13992
  217. Feng D, Edwards WD, Oh JK, Chandrasekaran K, Grogan M, Martinez MW, et al. Intracardiac thrombosis and embolism in patients with cardiac amyloidosis. Circulation. 2007; 116(21): 24206. DOI: 10.1161/CIRCULATIONAHA.107.697763
  218. Feng D, Syed IS, Martinez M, Oh JK, Jaffe AS, Grogan M, et al. Intracardiac thrombosis and anticoagulation therapy in cardiac amyloidosis. Circulation. 2009; 119(18): 24907. DOI: 10.1161/CIRCULATIONAHA.108.785014
  219. El-Am EA, Dispenzieri A, Melduni RM, Ammash NM, White RD, Hodge DO, et al. Direct Current Cardioversion of Atrial Arrhythmias in Adults With Cardiac Amyloidosis. J Am Coll Cardiol. 2019; 73(5): 58997. DOI: 10.1016/j.jacc.2018.10.079
  220. Donnellan E, Elshazly MB, Vakamudi S, Wazni OM, Cohen JA, Kanj M, et al. No Association Between CHADS-VASc Score and Left Atrial Appendage Thrombus in Patients With Transthyretin Amyloidosis. JACC Clin Electrophysiol. 2019; 5(12): 14734. DOI: 10.1016/j.jacep.2019.10.013
  221. Giancaterino S, Urey MA, Darden D, Hsu JC. Management of Arrhythmias in Cardiac Amyloidosis. JACC Clin Electrophysiol. 2020; 6(4): 35161. DOI: 10.1016/j.jacep.2020.01.004
  222. Vilches S, Fontana M, Gonzalez-Lopez E, Mitrani L, Saturi G, Renju M, et al. Systemic embolism in amyloid transthyretin cardiomyopathy. Eur J Heart Fail. 2022; 24(8): 138796. DOI: 10.1002/ejhf.2566
  223. Amat-Santos IJ, Delgado-Arana JR, Cruz-González I, Gutiérrez H, García-Bolao I, Millán X, et al. Cardiac amyloidosis and left atrial appendage closure. The CAMYLAAC Study. Rev Esp Cardiol (Engl Ed). 2022. DOI: 10.1016/j.rec.2022.08.001
  224. Donnellan E, Wazni OM, Saliba WI, Hanna M, Kanj M, Patel DR, et al. Prevalence, Incidence, and Impact on Mortality of Conduction System Disease in Transthyretin Cardiac Amyloidosis. Am J Cardiol. 2020; 128: 1406. DOI: 10.1016/j.amjcard.2020.05.021
  225. Algalarrondo V, Dinanian S, Juin C, Chemla D, Bennani SL, Sebag C, et al. Prophylactic pacemaker implantation in familial amyloid polyneuropathy. Heart Rhythm. 2012; 9(7): 106975. DOI: 10.1016/j.hrthm.2012.02.033
  226. Azevedo Coutinho MDC, Cortez-Dias N, Cantinho G, Conceição I, Guimarães T, Lima da Silva G, et al. Progression of myocardial sympathetic denervation assessed by (123)I-MIBG imaging in familial amyloid polyneuropathy and the effect of liver transplantation. Rev Port Cardiol. 2017; 36(5): 33340. DOI: 10.1016/j.repc.2016.08.010
  227. Milner J, Teixeira RN, Marinho AV, Silva N, Calretas S, Ferrão J, et al. Pacemaker implantation in familial amyloid polyneuropathy: when and for whom? J Interv Card Electrophysiol. 2019; 55(2): 20711. DOI: 10.1007/s10840-019-00517-y
  228. Donnellan E, Wazni OM, Saliba WI, Baranowski B, Hanna M, Martyn M, et al. Cardiac devices in patients with transthyretin amyloidosis: Impact on functional class, left ventricular function, mitral regurgitation, and mortality. J Cardiovasc Electrophysiol. 2019; 30(11): 242732. DOI: 10.1111/jce.14180
  229. Towbin JA, McKenna WJ, Abrams DJ, Ackerman MJ, Calkins H, Darrieux FCC, et al. 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy: Executive summary. Heart Rhythm. 2019; 16(11): e373e407. DOI: 10.1016/j.hrthm.2019.09.019
  230. Hamon D, Algalarrondo V, Gandjbakhch E, Extramiana F, Marijon E, Elbaz N, et al. Outcome and incidence of appropriate implantable cardioverter-defibrillator therapy in patients with cardiac amyloidosis. Int J Cardiol. 2016; 222: 5628. DOI: 10.1016/j.ijcard.2016.07.254
  231. Singer W, Opfer-Gehrking TL, McPhee BR, Hilz MJ, Bharucha AE, Low PA. Acetylcholinesterase inhibition: a novel approach in the treatment of neurogenic orthostatic hypotension. J Neurol Neurosurg Psychiatry. 2003; 74(9): 12948. DOI: 10.1136/jnnp.74.9.1294
  232. Kristen AV, Kreusser MM, Blum P, Schönland SO, Frankenstein L, Dösch AO, et al. Improved outcomes after heart transplantation for cardiac amyloidosis in the modern era. J Heart Lung Transplant. 2018; 37(5): 6118. DOI: 10.1016/j.healun.2017.11.015
  233. Jha SR, Hannu MK, Chang S, Montgomery E, Harkess M, Wilhelm K, et al. The Prevalence and Prognostic Significance of Frailty in Patients With Advanced Heart Failure Referred for Heart Transplantation. Transplantation. 2016; 100(2): 42936. DOI: 10.1097/TP.0000000000000991
  234. Kittleson MM, Cole RM, Patel J, Ramzy D, Passano E, Chang DH, et al. Mechanical circulatory support for cardiac amyloidosis. Clin Transplant. 2019; 33(10):e13663. DOI: 10.1111/ctr.13663
  235. Randhawa VK, Gabrovsek A, Soltesz EG, Tong MZY, Unai S, Chen L, et al. A case series of cardiac amyloidosis patients supported by continuous-flow left ventricular assist device. ESC Heart Fail. 2021; 8(5): 43536. DOI: 10.1002/ehf2.13422
  236. Griffin JM, Baughan E, Rosenblum H, Clerkin KJ, Fried JA, Raikhelkar J, et al. Surveillance for disease progression of transthyretin amyloidosis after heart transplantation in the era of novel disease modifying therapies. J Heart Lung Transplant. 2022; 41(2): 199207. DOI: 10.1016/j.healun.2021.10.007
  237. Hanna M, Damy T, Grogan M, Stewart M, Gundapaneni B, Patterson TA, et al. Impact of Tafamidis on Health-Related Quality of Life in Patients With Transthyretin Amyloid Cardiomyopathy (from the Tafamidis in Transthyretin Cardiomyopathy Clinical Trial). Am J Cardiol. 2021; 141: 98105. DOI: 10.1016/j.amjcard.2020.10.066
  238. Badr Eslam R, Öztürk B, Rettl R, Capelle CDJ, Qin H, Binder C, et al. Impact of Tafamidis and Optimal Background Treatment on Physical Performance in Patients With Transthyretin Amyloid Cardiomyopathy. Circ Heart Fail. 2022; 15(7):e008381. DOI: 10.1161/CIRCHEARTFAILURE.121.008381
  239. Damy T, Garcia-Pavia P, Hanna M, Judge DP, Merlini G, Gundapaneni B, et al. Efficacy and safety of tafamidis doses in the Tafamidis in Transthyretin Cardiomyopathy Clinical Trial (ATTR-ACT) and long-term extension study. Eur J Heart Fail. 2021; 23(2): 27785. DOI: 10.1002/ejhf.2027
  240. Elliott P, Drachman BM, Gottlieb SS, Hoffman JE, Hummel SL, Lenihan DJ, et al. Long-Term Survival With Tafamidis in Patients With Transthyretin Amyloid Cardiomyopathy. Circ Heart Fail. 2022; 15(1):e008193. DOI: 10.1161/CIRCHEARTFAILURE.120.008193
  241. Fine NM, White JA, Jimenez-Zepeda V, Howlett JG. Determinants and Prognostic Significance of Serial Right Heart Function Changes in Patients With Cardiac Amyloidosis. Can J Cardiol. 2020; 36(3): 43240. DOI: 10.1016/j.cjca.2020.01.020
  242. Masri A, Chen H, Wong C, Fischer KL, Karam C, Gellad WF, et al. Initial Experience Prescribing Commercial Tafamidis, the Most Expensive Cardiac Medication in History. JAMA Cardiol. 2020; 5(9): 10667. DOI: 10.1001/jamacardio.2020.1738
  243. Hlatky MA. Willingness to Pay for High-Cost Medications. Circulation. 2020; 141(15): 12256. DOI: 10.1161/CIRCULATIONAHA.120.045966
  244. Judge DP, Heitner SB, Falk RH, Maurer MS, Shah SJ, Witteles RM, et al. Transthyretin Stabilization by AG10 in Symptomatic Transthyretin Amyloid Cardiomyopathy. J Am Coll Cardiol. 2019; 74(3): 28595. DOI: 10.1016/j.jacc.2019.03.012
  245. 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; 25(3): 197202. DOI: 10.1080/13506129.2018.1519507
  246. Lohrmann G, Pipilas A, Mussinelli R, Gopal DM, Berk JL, Connors LH, et al. Stabilization of Cardiac Function With Diflunisal in Transthyretin (ATTR) Cardiac Amyloidosis. J Card Fail. 2020; 26(9): 7539. DOI: 10.1016/j.cardfail.2019.11.024
  247. 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; 11(4):e004769. DOI: 10.1161/CIRCHEARTFAILURE.117.004769
  248. Coelho T, Adams D, Silva A, Lozeron P, Hawkins PN, Mant T, et al. Safety and efficacy of RNAi therapy for transthyretin amyloidosis. N Engl J Med. 2013; 369(9): 81929. DOI: 10.1056/NEJMoa1208760
  249. 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; 139(4): 43143. DOI: 10.1161/CIRCULATIONAHA.118.035831
  250. Minamisawa M, Claggett B, Adams D, Kristen AV, Merlini G, Slama MS, et al. Association of Patisiran, an RNA Interference Therapeutic, With Regional Left Ventricular Myocardial Strain in Hereditary Transthyretin Amyloidosis: The APOLLO Study. JAMA Cardiol. 2019; 4(5): 46672. DOI: 10.1001/jamacardio.2019.0849
  251. Fontana M, Martinez-Naharro A, Chacko L, Rowczenio D, Gilbertson JA, Whelan CJ, et al. Reduction in CMR Derived Extracellular Volume With Patisiran Indicates Cardiac Amyloid Regression. JACC Cardiovasc Imaging. 2021; 14(1): 18999. DOI: 10.1016/j.jcmg.2020.07.043
  252. Maurer M, Fontana M, Berk JL, Gustafsson F, Simões M, Grogan M, et al. Primary Results from APOLLO-B, A Phase 3 Study of Patisiran in Patients wih Transthyretin-Mediated Amyloidosis with Cardiomyopathy. XVIII Metting of the International Society of Amyloidosis (ISA). 2022; Oral Presention POLB001.
  253. Adams D, Tournev IL, Taylor MS, Coelho T, Planté-Bordeneuve V, Berk JL, et al. Efficacy and safety of vutrisiran for patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy: a randomized clinical trial. Amyloid. 2022: 19. DOI: 10.1080/13506129.2022.2091985
  254. Garcia Pavia P, Gillmore JD, Kale P, Berk JL, Maurer MS, Conceição I, et al. HELIOS-A: 18-month exploratory cardiac results from the phase 3 study of vutrisiran in patients with hereditary transthyretin-mediated amyloidosis. Archives of Cardiovascular Diseases Supplements. 2023; 15(1): 312. DOI: 10.1016/j.acvdsp.2022.10.056
  255. 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; 379(1): 2231. DOI: 10.1056/NEJMoa1716793
  256. Brannagan TH, Coelho T, Wang AK, Polydefkis MJ, Dyck PJ, Berk JL, et al. Long-term efficacy and safety of inotersen for hereditary transthyretin amyloidosis: NEURO-TTR open-label extension 3-year update. J Neurol. 2022; 269(12): 641627. DOI: 10.1007/s00415-022-11276-8
  257. Benson MD, Dasgupta NR, Rissing SM, Smith J, Feigenbaum H. Safety and efficacy of a TTR specific antisense oligonucleotide in patients with transthyretin amyloid cardiomyopathy. Amyloid. 2017; 24(4): 21925. DOI: 10.1080/13506129.2017.1374946
  258. Dasgupta NR, Rissing SM, Smith J, Jung J, Benson MD. Inotersen therapy of transthyretin amyloid cardiomyopathy. Amyloid. 2020; 27(1): 528. DOI: 10.1080/13506129.2019.1685487
  259. Coelho T, Waddington Cruz M, Chao CC, Parman Y, Wixner J, Weiler M, et al. Characteristics of Patients with Hereditary Transthyretin Amyloidosis-Polyneuropathy (ATTRv-PN) in NEURO-TTRansform, an Open-label Phase 3 Study of Eplontersen. Neurol Ther. 2023; 12(1): 26787. DOI: 10.1007/s40120-022-00414-z
  260. Coelho T, Ando Y, Benson MD, Berk JL, Waddington-Cruz M, Dyck PJ, et al. Design and Rationale of the Global Phase 3 NEURO-TTRansform Study of Antisense Oligonucleotide AKCEA-TTR-L(Rx) (ION-682884-CS3) in Hereditary Transthyretin-Mediated Amyloid Polyneuropathy. Neurol Ther. 2021; 10(1): 37589. DOI: 10.1007/s40120-021-00235-6
  261. Khella S, Marques W, Dasgupta N, Chao C, Yesim F, M. FC, et al. Eplontersen in hereditary ATTR-polyneuropathy: week 66 final analysis of the phase 3 NEURO-TTRansform study. Presented at: American Academy of Neurology (AAN) 2023 Annual Meeting; April 22–27, 2023; Boston, MA, and Virtual. Poster 008. 2023.
  262. Finn JD, Smith AR, Patel MC, Shaw L, Youniss MR, van Heteren J, et al. A Single Administration of CRISPR/Cas9 Lipid Nanoparticles Achieves Robust and Persistent In Vivo Genome Editing. Cell Rep. 2018; 22(9): 222735. DOI: 10.1016/j.celrep.2018.02.014
  263. Gupta D, Bhattacharjee O, Mandal D, Sen MK, Dey D, Dasgupta A, et al. CRISPR-Cas9 system: A new-fangled dawn in gene editing. Life Sci. 2019; 232: 116636. DOI: 10.1016/j.lfs.2019.116636
  264. Gillmore JD, Gane E, Taubel J, Kao J, Fontana M, Maitland ML, et al. CRISPR-Cas9 In Vivo Gene Editing for Transthyretin Amyloidosis. N Engl J Med. 2021; 385(6): 493502. DOI: 10.1056/NEJMoa2107454
  265. Williams MAC, Shankar B, Vaishnav J, Ranek MJ. Current and potential therapeutic strategies for transthyretin cardiac amyloidosis. Frontiers in Drug Discovery. 2022; 2. DOI: 10.3389/fddsv.2022.1015545
  266. 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; 19 Suppl 1: 346. DOI: 10.3109/13506129.2012.678508
  267. Garcia-Pavia P, Aus dem Siepen F, Donal E, Lairez O, van der Meer P, Kristen AV, et al. Phase 1 Trial of Antibody NI006 for Depletion of Cardiac Transthyretin Amyloid. N Engl J Med. 2023. DOI: 10.1056/NEJMoa2303765
  268. Kristen AV, Lehrke S, Buss S, Mereles D, Steen H, Ehlermann P, et al. Green tea halts progression of cardiac transthyretin amyloidosis: an observational report. Clin Res Cardiol. 2012; 101(10): 80513. DOI: 10.1007/s00392-012-0463-z
  269. Bieschke J. Natural compounds may open new routes to treatment of amyloid diseases. Neurotherapeutics. 2013; 10(3): 42939. DOI: 10.1007/s13311-013-0192-7
  270. aus dem Siepen F, Bauer R, Aurich M, Buss SJ, Steen H, Altland K, et al. Green tea extract as a treatment for patients with wild-type transthyretin amyloidosis: an observational study. Drug Des Devel Ther. 2015; 9: 631925. DOI: 10.2147/DDDT.S96893
  271. Cappelli F, Martone R, Taborchi G, Morini S, Bartolini S, Angelotti P, et al. Epigallocatechin-3-gallate tolerability and impact on survival in a cohort of patients with transthyretin-related cardiac amyloidosis. A single-center retrospective study. Intern Emerg Med. 2018; 13(6): 87380. DOI: 10.1007/s11739-018-1887-x
  272. Brannagan TH, 3rd, Auer-Grumbach M, Berk JL, Briani C, Bril V, Coelho T, et al. ATTR amyloidosis during the COVID-19 pandemic: insights from a global medical roundtable. Orphanet J Rare Dis. 2021; 16(1): 204. DOI: 10.1186/s13023-021-01834-0
  273. Lewis E, Fine N, Miller RJH, Hahn C, Chhibber S, Mahe E, et al. Amyloidosis and COVID-19: experience from an amyloid program in Canada. Ann Hematol. 2022; 101(10): 230715. DOI: 10.1007/s00277-022-04964-y
  274. World Health Organization. WHO SAGE Roadmap for prioritizing uses of COVID-19 vaccines, 2022 Available from: https://www.who.int/publications/i/item/WHO-2019-nCoV-Vaccines-SAGE-Prioritization-2022.1 January 1, 2023.
  275. Australian Amyloidosis Network. Coronavirus: Instructions for amyloidosis patients. 2021.
  276. Radbruch L, De Lima L, Knaul F, Wenk R, Ali Z, Bhatnaghar S, et al. Redefining Palliative Care-A New Consensus-Based Definition. J Pain Symptom Manage. 2020; 60(4): 75464. DOI: 10.1016/j.jpainsymman.2020.04.027
  277. Tsukanov J, Fabbro ED. Palliative care and symptom management in amyloidosis: A review. Curr Probl Cancer. 2016; 40(5–6): 2208. DOI: 10.1016/j.currproblcancer.2016.09.006
  278. Chester R, Richardson H, Doyle C, Hodson F, Ross JR. Heart failure-the experience of living with end-stage heart failure and accessing care across settings. Ann Palliat Med. 2021; 10(7): 741627. DOI: 10.21037/apm-21-709
  279. Gelfman LP, Sudore RL, Mather H, McKendrick K, Hutchinson MD, Lampert RJ, et al. Prognostic Awareness and Goals of Care Discussions Among Patients With Advanced Heart Failure. Circ Heart Fail. 2020; 13(9):e006502.
  280. Richter D, Guasti L, Walker D, Lambrinou E, Lionis C, Abreu A, et al. Frailty in cardiology: definition, assessment and clinical implications for general cardiology. A consensus document of the Council for Cardiology Practice (CCP), Association for Acute Cardio Vascular Care (ACVC), Association of Cardiovascular Nursing and Allied Professions (ACNAP), European Association of Preventive Cardiology (EAPC), European Heart Rhythm Association (EHRA), Council on Valvular Heart Diseases (VHD), Council on Hypertension (CHT), Council of Cardio-Oncology (CCO), Working Group (WG) Aorta and Peripheral Vascular Diseases, WG e-Cardiology, WG Thrombosis, of the European Society of Cardiology, European Primary Care Cardiology Society (EPCCS). Eur J Prev Cardiol. 2022; 29(1): 21627. DOI: 10.1093/eurjpc/zwaa167
  281. Davis MK, Fine NM, Small GR, Connolly K, Bosley D, Zieroth S, et al. Establishing a Cardiac Amyloidosis Clinic: A Practical Primer for Cardiologists. Can J Cardiol. 2021; 37(4): 6748. DOI: 10.1016/j.cjca.2021.01.015
  282. Amyloidosis Research Consortium ARC. Amyloidosis: The Voice of the Patient, 2019 Available from: https://www.youtube.com/watch?v=K5IeBWlRhyM January 7, 2023.
  283. Nativi-Nicolau J, Sarswat N, Fajardo J, Finkel M, Abdulsattar Y, Castaño A, et al. Best Practices in Specialized Amyloidosis Centers in the United States: A Survey of Cardiologists, Nurses, Patients, and Patient Advocates. Clin Med Insights Cardiol. 2021; 15: 11795468211015230. DOI: 10.1177/11795468211015230
  284. Porcari A, Allegro V, Saro R, Varrà GG, Pagura L, Rossi M, et al. Evolving trends in epidemiology and natural history of cardiac amyloidosis: 30-year experience from a tertiary referral center for cardiomyopathies. Front Cardiovasc Med. 2022; 9: 1026440. DOI: 10.3389/fcvm.2022.1026440
  285. Amyloidosis Alliance. Amyloidosis Alliance: The Voice of Patients 2021 Available from: https://www.amyloidosisalliance.org/ December 31, 2022.
  286. World Amyloidosis Day. Testimonials 2022 Available from: https://worldamyloidosisday.org/testimonials/ December 31, 2022.
  287. World Amyloidosis Day. Videos 2022 Available from: https://worldamyloidosisday.org/videos/ December 31, 2022.
  288. World Amyloidosis Day. Second World Amyloidosis Day, 2022 Available from: https://worldamyloidosisday.org/ December 31, 2022.
  289. Maestro-Benedicto A, Vela P, de Frutos F, Mora N, Pomares A, Gonzalez-Vioque E, et al. Frequency of hereditary transthyretin amyloidosis among elderly patients with transthyretin cardiomyopathy. Eur J Heart Fail. 2022; 24(12): 236773. DOI: 10.1002/ejhf.2658
  290. Stewart M, Shaffer S, Murphy B, Loftus J, Alvir J, Cicchetti M, et al. Characterizing the High Disease Burden of Transthyretin Amyloidosis for Patients and Caregivers. Neurol Ther. 2018; 7(2): 34964. DOI: 10.1007/s40120-018-0106-z
  291. Rintell D, Heath D, Braga Mendendez F, Cross E, Cross T, Knobel V, et al. Patient and family experience with transthyretin amyloid cardiomyopathy (ATTR-CM) and polyneuropathy (ATTR-PN) amyloidosis: results of two focus groups. Orphanet J Rare Dis. 2021; 16(1): 70. DOI: 10.1186/s13023-021-01706-7
  292. Fine NM, McMillan JM. Prevalence and Prognostic Significance of Frailty Among Patients With Transthyretin Amyloidosis Cardiomyopathy. Circ Heart Fail. 2021; 14(6):e008105. DOI: 10.1161/CIRCHEARTFAILURE.120.008105
  293. Amyloidosis Support. Amyloidosis Support Groups 2023 Available from: https://www.amyloidosissupport.org/ February 7, 2023.
  294. International Society of Amyloidosis. Resources - Amyloidosis Centers by Region 2021 Available from: https://www.isaamyloidosis.org/resources February 7, 2023.
  295. Koike H, Okumura T, Murohara T, Katsuno M. Multidisciplinary Approaches for Transthyretin Amyloidosis. Cardiol Ther. 2021; 10(2): 289311. DOI: 10.1007/s40119-021-00222-w
  296. Nativi-Nicolau J, Maurer MS. Amyloidosis cardiomyopathy: update in the diagnosis and treatment of the most common types. Curr Opin Cardiol. 2018; 33(5): 5719. DOI: 10.1097/HCO.0000000000000547
  297. Minnella AM, Rissotto R, Antoniazzi E, Di Girolamo M, Luigetti M, Maceroni M, et al. Ocular Involvement in Hereditary Amyloidosis. Genes (Basel). 2021; 12(7). DOI: 10.3390/genes12070955
  298. Rao VN, Fudim M, Savarese G, Butler J. Polypharmacy in Heart Failure with Reduced Ejection Fraction: Progress, Not Problem. Am J Med. 2021; 134(9): 106870. DOI: 10.1016/j.amjmed.2021.03.038
  299. Spencer-Bonilla G, Njoroge JN, Pearson K, Witteles RM, Aras MA, Alexander KM. Racial and Ethnic Disparities in Transthyretin Cardiac Amyloidosis. Curr Cardiovasc Risk Rep. 2021; 15(6). DOI: 10.1007/s12170-021-00670-y
  300. He S, Tian Z, Guan H, Li J, Fang Q, Zhang S. Clinical characteristics and prognosis of Chinese patients with hereditary transthyretin amyloid cardiomyopathy. Orphanet J Rare Dis. 2019; 14(1): 251. DOI: 10.1186/s13023-019-1235-x
  301. Yongsheng Z, Chong S, Bingyou L, Jianian H, Haofeng C, Chongbo Z, et al. Prevalence estimation of ATTRv in China based on genetic databases. Front Genet. 2023; 14: 1126836. DOI: 10.3389/fgene.2023.1126836
  302. Szor RS, Alencar A, Bueno BVK, Cafezeiro CRF, Alves LBO, Hajjar LA, et al. Amyloid Cardiomyopathy: Establishing a Patient Referral Center in Brazil. JACC CardioOncol. 2021; 3(4): 60610. DOI: 10.1016/j.jaccao.2021.06.001
  303. González-Duarte A, Cárdenas-Soto K, Bañuelos CE, Fueyo O, Dominguez C, Torres B, et al. Amyloidosis due to TTR mutations in Mexico with 4 distincts genotypes in the index cases. Orphanet J Rare Dis. 2018; 13(1): 107. DOI: 10.1186/s13023-018-0801-y
DOI: https://doi.org/10.5334/gh.1262 | Journal eISSN: 2211-8179
Language: English
Submitted on: Aug 10, 2023
Accepted on: Aug 12, 2023
Published on: Oct 26, 2023
Published by: Ubiquity Press
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year

© 2023 Dulce Brito (Chair), Fabiano Castro Albrecht, Diego Perez de Arenaza, Nicole Bart, Nathan Better, Isabel Carvajal-Juarez, Isabel Conceição, Thibaud Damy, Sharmila Dorbala, Jean-Christophe Fidalgo, Pablo Garcia-Pavia, Junbo Ge, Julian D. Gillmore, Jacek Grzybowski, Laura Obici, Daniel Piñero, Claudio Rapezzi, Mitsuharu Ueda, Fausto J. Pinto, published by Ubiquity Press
This work is licensed under the Creative Commons Attribution 4.0 License.