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Références - HCP - French

Références

RÉFÉRENCES

À propos d’amylose

  1. Hawkins et al. UCL Centre for Amyloidosis and Acute Phase Proteins. Amyloidosis Overview. https://www.ucl.ac.uk/amyloidosis/nac/amyloidosis-overview (consulté le 05/05/2019)
  2. Pinney JH, Hawkins PN. Amyloidosis. Ann Clin Biochem. 2012;49(Pt 3):229-41.
  3. Stichting Amyloïdose Nederland (SAN), de Vereniging Samenwerkende Ouder- en Patiëntenorganisaties (VSOP) en het Nederlands Huisartsen Genootschap (NHG). Informatie voor de huisarts over amyloïdose. Soest 2016. https://www.herkenamyloidose.nl/ (consulté le 05/05/2019)
  4. Merlini G, Westermark P. The systemic amyloidoses: clearer understanding of the molecular mechanisms offers hope for more effective therapies. J Intern Med. 2004;255(2):159-78.
  5. Merrimen JL, Alkhudair WK, Gupta R. Localized amyloidosis of the urinary tract: case series of nine patients. Urology. 2006;67(5):904-9.
  6. Santos JW, Schneider filho A, Bertolazzi A, et al. Primary tracheobronchial amyloidosis. J Bras Pneumol. 2008;34(10):881-4.
  7. Blancas-Mejia LM et al. Immunoglobulin light chain amyloid aggregation. Chem Commun (Camb). 2018;54(76):10664-10674
  8. Wechalekar AD, Gillmore JD, Hawkins PN. Systemic amyloidosis. Lancet. 2016;387(10038):2641-2654.

À propos de h’ATTR

  1. Hawkins et al. UCL Centre for Amyloidosis and Acute Phase Proteins. Amyloidosis Overview. https://www.ucl.ac.uk/amyloidosis/nac/amyloidosis-overview (consulté le  05/05/2019)
  2. Pinney JH, Hawkins PN. Amyloidosis. Ann Clin Biochem. 2012;49(Pt 3):229-41.
  3. Stichting Amyloïdose Nederland (SAN), de Vereniging Samenwerkende Ouder- en Patiëntenorganisaties (VSOP) en het Nederlands Huisartsen Genootschap (NHG). Informatie voor de huisarts over amyloïdose. Soest 2016. https://www.herkenamyloidose.nl/ (consulté le 05/05/2019)
  4. Merlini G, Westermark P. The systemic amyloidoses: clearer understanding of the molecular mechanisms offers hope for more effective therapies. J Intern Med. 2004;255(2):159-78.
  5. Merrimen JL, Alkhudair WK, Gupta R. Localized amyloidosis of the urinary tract: case series of nine patients. Urology. 2006;67(5):904-9.
  6. Santos JW, Schneider filho A, Bertolazzi A, et al. Primary tracheobronchial amyloidosis. J Bras Pneumol. 2008;34(10):881-4.
  7. Ando Y, Coelho T, Berk JL, et al. Guideline of transthyretin-related hereditary amyloidosis for clinicians. Orphanet J Rare Dis. 2013;8:31.
  8. Adams D. et al. First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy. Curr Opin Neurol 2016, 29 (suppl 1):S14–S26.
  9. Wixner J, Mundayat R, Karayal ON, et al. THAOS: gastrointestinal manifestations of transthyretin amyloidosis - common complications of a rare disease. Orphanet J Rare Dis. 2014;9:61.
  10. Rapezzi et al. Transthyretin-related amyloidosis and the heart: a clinical overview. Nat. Rev. Cardiol. 2010; 7: 398–408.
  11. Planté-bordeneuve V, Said G. Familial amyloid polyneuropathy. Lancet Neurol. 2011;10(12):1086-97
  12. Adams D, Lozeron P, Lacroix C. Amyloid neuropathies. Curr Opin Neurol. 2012;25(5):564-72.
  13. Koike H, Tanaka F, Hashimoto R, et al. Natural history of transthyretin Val30Met familial amyloid polyneuropathy: analysis of late-onset cases from non-endemic areas. J Neurol Neurosurg Psychiatry. 2012;83(2):152-8.
  14. Blancas-Mejia LM et al. Immunoglobulin light chain amyloid aggregation. Chem Commun (Camb). 2018;54(76):10664-10674
  15. Hawkins PN, Ando Y,Dispenzeri A, Gonzalez-Duarte A, Adams D, SuhrOB. Evolving landscape in the management of transthyretin amyloidosis. Ann Med. 2015;47(8):625-638. 20.
  16. Gertz MA. Hereditary ATTR amyloidosis: burden of illness and diagnostic challenges. Am J Manag Care. 2017;23(suppl 7):S107-S112.
  17. Swiecicki PL, Zhen DB, Mauermann ML, et al. Hereditary ATTR amyloidosis: a single-institution experience with 266 patients. Amyloid. 2015;22(2):123-131.
  18. Gonzalez-duarte A. Autonomic involvement in hereditary transthyretin amyloidosis (hATTR amyloidosis). Clin Auton Res. 2019;29(2):245-251.
  19. Ruberg FL, Berk JL. Transthyretin (TTR) cardiac amyloidosis. Circulation. 2012;126(10):1286-300.
  20. Siddiqi OK, Ruberg FL. Cardiac amyloidosis: An update on pathophysiology, diagnosis, and treatment. Trends Cardiovasc Med. 2018;28(1):10-21.
  21. Barroso FA, Judge DP, Ebede B, et al. Long-term safety and efficacy of tafamidis for the treatment of hereditary transthyretin amyloid polyneuropathy: results up to 6 years. Amyloid. 2017; 24(3):194-204.
  22. Rapezzi C, Arbustini E, Caforio AL, et al. Diagnostic work-up in cardiomyopathies: bridging the gap between clinical phenotypes and final diagnosis. A position statement from the ESC Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2013;34(19):1448-58.
  23. 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):1357-1377.
  24. Wechalekar AD, Gillmore JD, Hawkins PN. Systemic amyloidosis. Lancet. 2016;387(10038):2641-2654.
  25. Conceição I, González-duarte A, Obici L, et al. "Red-flag" symptom clusters in transthyretin familial amyloid polyneuropathy. J Peripher Nerv Syst. 2016;21(1):5-9.
  26. Maurer MS, Hanna M, Grogan M, et al. Genotype and phenotype of transthyretin cardiac amyloidosis: THAOS (Transthyretin Amyloid Outcome Survey). J Am Coll Cardiol. 2016;68(2):161-172.
  27. Coelho T, Maia LF, Martins da silva A, et al. Tafamidis for transthyretin familial amyloid polyneuropathy: a randomized, controlled trial. Neurology. 2012;79(8):785-92.
  28. Seward JB, Casaclang-verzosa G. Infiltrative cardiovascular diseases: cardiomyopathies that look alike. J Am Coll Cardiol. 2010;55(17):1769-79.

À propos de l’ATTR-CM

  1. Maurer MS, Elliott P, Comenzo R, Semigran M, Rapezzi C. Addressing common questions encountered in the diagnosis and management of cardiac amyloidosis. Circulation. 2017;135(14):1357-1377.
  2. Givens RC, Russo C, Green P, et al. Comparison of cardiac amyloidosis due to wild-type and V122I transthyretin in older adults referred to an academic medical center. Aging Health. 2013;9(2):1-13.
  3. Johnson SM, Connelly S, Fearns C, et al. The transthyretin amyloidoses: from delineating the molecular mechanism of aggregation linked to pathology to a regulatory agency approved drug. J Mol Biol. 2012;421(2-3):185-203.
  4. Rapezzi C, Lorenzini M, Longhi S, et al. Cardiac amyloidosis: the great pretender. Heart Fail Rev. 2015;20(2):117-124.
  5. Donnelly JP, Hanna M. Cardiac amyloidosis: an update on diagnosis and treatment. Cleve Clin J Med. 2017;84(12 suppl 3):12-26.
  6. Ruberg FL, Berk JL. Transthyretin (TTR) cardiac amyloidosis. Circulation. 2012;126(10):1286-1300.
  7. González-López E, López-Sainz Á, Garcia-Pavia P. Diagnosis and treatment of transthyretin cardiac amyloidosis. Progress and hope. Rev Esp Cardiol. 2017;70(11):991-1004.
  8. Arbustini E, Merlini G. Early identification of transthyretin-related hereditary cardiac amyloidosis. JACC Cardiovasc Imaging. 2014;7(5):511-514.
  9. Ando Y, Coelho T, Berk JL, et al. Guideline of transthyretin-related hereditary amyloidosis for clinicians. Orphanet J Rare Dis. 2013;8:31.
  10. 1Gertz MA, Benson MD, Dyck PJ, et al. Diagnosis, prognosis, and therapy of transthyretin amyloidosis. J Am Coll Cardiol. 2015;66(21):2451-2466.
  11. Castaño A, Drachman BM, Judge D, Maurer MS. Natural history and therapy of TTR-cardiac amyloidosis: emerging disease-modifying therapies from organ transplantation to stabilizer and silencer drugs. Heart Fail Rev. 2015;20(2):163-178.
  12. Grogan M, Scott CG, Kyle RA, 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):1014-1020.
  13. Banypersad SM, Moon JC, Whelan C, Hawkins PN, Wechalekar AD. Updates in cardiac amyloidosis: a review. J Am Heart Assoc. 2012;12:e000364.
  14. Elliott PM, Anastasakis A, Borger MA, et al. 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the task force for the diagnosis and management of hypertrophic cardiomyopathy of the European Society of Cardiology (ESC). Eur Heart J. 2014;35(39):2733-2779.
  15. González-López E, Gallego-Delgado M, Guzzo-Merello G, et al. Wild-type transthyretin amyloidosis as a cause of heart failure with preserved ejection fraction. Eur Heart J. 2015;36(38):2585-2594.
  16. Castaño A, Narotsky DL, Hamid N, 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;38:2879-2887.
  17. Rapezzi C, Quarta CC, Riva L, et al. Transthyretin-related amyloidoses and the heart: a clinical overview. Nat Rev Cardiol. 2010;7(7):398-408.
  18. Jacobson DR, Pastore RD, Yaghoubian R, et al. Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans. N Engl J Med. 1997;336:466-473.
  19. Damy T, Costes B, Hagège AA, 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):1826-1834.
  20. Donnelly JP, Hanna M. Cardiac amyloidosis: an update on diagnosis and treatment. Cleve Clin J Med. 2017;84(12 suppl 3):12-26.
  21. Mollee P, Renaut P, Gottlieb D, Goodman H. How to diagnose amyloidosis. Intern Med J. 2014;44(1):7-17.
  22. Dungu JN, Anderson LJ, Whelan CJ, Hawkins PN. Cardiac transthyretin amyloidosis. Heart. 2012;98(21):1546-1554.
  23. Rapezzi C, Merlini G, Quarta CC, et al. Systemic cardiac amyloidoses: disease profiles and clinical courses of the 3 main types. Circulation. 2009;120(13):1203-1212.
  24. Dubrey SW, Hawkins PN, Falk RH. Amyloid diseases of the heart: assessment, diagnosis, and referral. Heart. 2011;97(1):75-84.
  25. Sperry BW, Ikram A, Hachamovitch R, et al. Efficacy of chemotherapy for light-chain amyloidosis in patients presenting with symptomatic heart failure. J Am Coll Cardiol. 2016;67(25):2941-2948.
  26. Milani P, Merlini G, Palladini G. Light chain amyloidosis. Mediterr J Hematol Infect Dis. 2018;10(1):e2018022.
  27. Gillmore JD, Maurer MS, Falk RH, et al. Nonbiopsy diagnosis of cardiac transthyretin amyloidosis. Circulation. 2016;133(24):2404-2412.
  28. Castaño A, Haq M, Narotsky DL, et al. Multicenter study of planar technetium 99m pyrophosphate cardiac imaging: predicting survival for patients with ATTR cardiac amyloidosis. JAMA Cardiol. 2016;1(8):880-889.
  29. Siddiqi OK, Ruberg FL. Cardiac amyloidosis: an update on pathophysiology, diagnosis, and treatment. Trends Cardiovasc Med. 2018;28(1):10-21.
  30. Perugini E, Guidalotti PL, Salvi F, et al. Noninvasive etiologic diagnosis of cardiac amyloidosis using 99mTc-3, 3-diphosphono-1,2-propanodicarboxylic acid scintigraphy. J Am Coll Cardiol. 2005;46:1076-1084.
  31. Gersh BJ, Maron BJ, Bonow RO, et al. 2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: a report of the American College of Cardiology Foundation/American Heart Association Task Force on practice guidelines. JACC.2011;58(25):e212-e260.
  32. Connors LH, Sam F, Skinner M et al. Heart failure due to age-related cardiac amyloid disease associated with wild-type transthyretin: a prospective, observational cohort study. Circulation. 2016;133(3):282-290.
  33. Mohammed SF, Mirzoyev SA, Edwards WD et al. Left ventricular amyloid deposition in patients with heart failure and preserved ejection fraction. JACC Heart Fail. 2014;2(2):113-122.
  34. Maurer MS, Hanna M, Grogan M et al. Genotype and phenotype of transthyretin cardiac amyloidosis: THAOS (Transthyretin Amyloid Outcome Survey). J Am Coll Cardiol,. 2016;68(2):161-172.
  35. Narotsky DL, Castaño A, Weinsaft JW, Bokhari S, Maurer MS. Wild-type transthyretin cardiac amyloidosis: novel insights from advanced imaging. Can J Cardiol. 2016;32(9):1166.e1-1166.e10.
  36. Nakagawa M, Sekijima Y, Yazaki M et al. Carpal tunnel syndrome: a common initial symptom of systemic wild-type ATTR (ATTRwt) amyloidosis. Amyloid. 2016;23(1):58-63.
  37. Swiecicki PL, Zhen DB, Mauermann ML et al. Hereditary ATTR amyloidosis: a single-institution experience with 266 patients. Amyloid. 2015;22(2):123-131.
  38. Westermark P, Westermark GT, Suhr OB, Berg S. Transthyretin-derived amyloidosis: probably a common cause of lumbar spinal stenosis. Ups J Med Sci. 2014;119(3):223-228.
  39. Yanagisawa A, Ueda M, Sueyoshi T et al. Amyloid deposits derived from transthyretin in the ligamentum flavum as related to lumbar spinal canal stenosis. Mod Pathol. 2015;28(2):201-207.
  40. Brunjes DL, Castano A, Clemons A, Rubin J, Maurer MS. Transthyretin cardiac amyloidosis in older Americans. J Card Fail. 2016;22(12):996-1003.
  41. Carroll JD, Gaasch WH, McAdam KP. Amyloid cardiomyopathy: characterization by a distinctive voltage/mass relation. Am J Cardiol. 1982;49:9-13.
  42. 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):1089-1093.
  43. Quarta CC, Solomon D, Uraizee I et al. Left ventricular structure and function in transthyretin-related versus light-chain cardiac amyloidosis. Circulation. 2014;129(18):1840-1849.
  44. Connors LH, Prokaeva T, Lim A 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. 2009;158(4):607-614.
  45. Sperry BW, Reyes BA, Ikram A et al. Tenosynovial and cardiac amyloidosis in patients undergoing carpal tunnel release. J Am Coll Cardiol. 2018;72(17):2040-2050.
  46. Sueyoshi T, Ueda M, Jono H et al. Wildtype transthyretin-derived amyloidosis in various ligaments and tendons. Hum Pathol. 2011;42(9):1259-1264.
  47. Phelan D, Collier P, Thavendiranathan P 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. 2012;98(19):1442-1448.
  48. Ternacle J, Bodez D, Guellich A et al. Causes and consequences of longitudinal LV dysfunction assessed by 2D strain echocardiography in cardiac amyloidosis. JACC Cardiovasc Imaging. 2016;9(2):126-138.
  49. Coelho T, Maurer MS, Suhr OB. THAOS - The Transthyretin Amyloidosis Outcomes Survey: initial report on clinical manifestations in patients with hereditary and wildtype transthyretin amyloidosis. Curr Med Res Opin. 2013;29(1):63-76.

Visuals

*Oerlemans MIFJ, Rutten KHG, Minnema MC, Raymakers RAP, Asselbergs FW, de Jonge N. Cardiac amyloidosis: the need for early diagnosis. Neth Heart J. 2019;27(11):525-536.

*Verstraete, S., Van Thillo, Q., Comment une scintigraphie osseuse classique peut-elle contribuer au diagnostic d’amyloïdose cardiaque sénile et nous mettre sur la piste d’un traitement potentiel? Jour Cardiol, 2015, 27 (4), 221-227.

 

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