Cardiac amyloidosis: Heterogenous pathogenic backgrounds

Internal Medicine

Volumn 43, Issue 12, 2004, Pages 1107-1114

  Ikeda, Shu Ichi ^a  

^a SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Amyloid; Cardiac amyloidosis; Cardiomyopathy; Secondary myocardial disease

Indexed keywords

AMYLOID; COLCHICINE; CORTICOSTEROID; DNA; IMMUNOGLOBULIN LIGHT CHAIN; MELPHALAN; PREALBUMIN; PREDNISOLONE; PYROPHOSPHATE TECHNETIUM TC 99M;

AMYLOID NEUROPATHY; AMYLOIDOSIS; BIOCHEMISTRY; CARDIOTOXICITY; CLINICAL FEATURE; CLINICAL TRIAL; DISEASE CLASSIFICATION; DISEASE SEVERITY; DNA SEQUENCE; DRUG FATALITY; DRUG MEGADOSE; ECHOCARDIOGRAPHY; FAMILIAL AMYLOIDOSIS; GENE MUTATION; HEART AMYLOIDOSIS; HEART DISEASE; HEART SCINTISCANNING; HUMAN; HYDRATION; IMMUNOHISTOCHEMISTRY; LIVER TRANSPLANTATION; PATHOGENESIS; PATHOPHYSIOLOGY; PROGNOSIS; PROTEIN BLOOD LEVEL; REVIEW; SIDE EFFECT; STEM CELL TRANSPLANTATION;

AMYLOIDOSIS; AMYLOIDOSIS, FAMILIAL; CARDIOMYOPATHIES; HUMANS;

EID: 11344294009     PISSN: 09182918     EISSN: None     Source Type: Journal    
DOI: 10.2169/internalmedicine.43.1107     Document Type: Review

References (71)

1. Plehn JF, Friedman BJ. Diastolic dysfunction in amyloid heart disease: restrictive cardiomyopathy or not? J Am Coll Cardiol 13: 54-56, 1989.
2. Falk RH, Comenzo RL, Skinner M. The systemic amyloidoses. N Engl J Med 337: 898-909, 1997.
3. Lewis WD. Liver transplantation: an effective treatment for familial ATTR amyloidosis. Amyloid 9: 201-202, 2002.
4. Seldin DC. AL amyloidosis, a curable disease? Amyloid 9 203-206, 2002.
5. Westermark P, Benson MD, Buxbaum JN, et al. Amyloid fibril protein nomenclature-2002. Amyloid 9: 197-200, 2002.
6. Westermark P, Bergström J, Solomon A, Murphy C, Sletten K. Transthyretin-derived senile systemic amyloidosis: clinicopathologic and structural considerations. Amyloid 10 (Suppl 1): 48-54, 2003.
7. Hoshii Y, Setoguchi M, Iwata T, et al. Useful polyclonal antibodies against synthetic peptides corresponding to immunoglobulin light chain constant region for immunohistochemical detection of immunoglobulin light chain amyloidosis. Pathol Int 51: 264-270, 2001.
8. Tachibana N, Tokuda T, Yoshida K, et al. Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy. Amyloid 6: 282-288, 1999.
9. Siqueira-Filho AG, Cunha CL, Tajik AJ, Seward JB, Schattenberg TT, Giuliani ER. M-mode and two-dimensional echocardiographic features in cardiac amyloidosis. Circulation 63: 188-196, 1981.
10. Hongo M, Ikeda S. Echocardiographic assessment of the evolution of amyloid heart disease: a study with familial amyloid polyneuropathy. Circulation 73: 249-256, 1986.
11. Wizenberg TA, Muz J, Sohn YH, Samlowski W, Weissler AM. Value of positive myocardial technetium-99m-pyrophosphate scintigraphy in the noninvasive diagnosis of cardiac amyloidosis. Am Heart J 103: 468-73, 1982.
12. Hongo M, Hirayama J, Fujii T, et al. Early identification of amyloid heart disease by technetium-99m-pyrophosphate scintigraphy: a study with familial amyloid polyneuropathy. Am Heart J 113: 654-662, 1987.
13. Roberts WC, Waller BF. Cardiac amyloidosis causing cardiac dysfunction: analysis of 54 necropsy patients. Am J Cardiol 52: 137-146, 1983.
14. Merlini G, Bellotti V. Molecular mechanism of amyloidosis. N Engl J Med 349: 583-596, 2003.
15. Dubrey SW, Cha K, Anderson J, et al. The clinical features of immunoglobulin light-chain (AL) amyloidosis with heart involvement. QJM 91: 141-157, 1998.
16. Kyle RA, Gertz MA. Primary systemic amyloidosis: clinical and laboratory features in 474 cases. Semin Hematol 32: 45-59, 1995.
17. Klein AL, Hatle LK, Taliercio CP, et al. Serial Doppler echocardiographic follow-up of left ventricular diastolic function in cardiac amyloidosis. J Am Coll Cardiol 16: 1135-1141, 1990.
18. Klein AL, Hatle LK, Taliercio CP, et al. Prognostic significance of Doppler measures of diastolic function in cardiac amyloidosis. A Doppler echocardiography study. Circulation 83: 808-816, 1991.
19. Koyama J, Ray-Sequin PA, Falk RH. Prognostic significance of ultrasound myocardial tissue characterization in patients with cardiac amyloidosis. Circulation 106: 556-561, 2002.
20. Koyama J, Ray-Sequin PA, Falk RH. Longitudinal myocardial function assessed by tissue velocity, strain, and strain rate tissue Doppler echocardiography in patients with AL (primary) cardiac amyloidosis. Circulation 107: 2446-2452, 2003.
21. Takemura G, Takatsu Y, Doyama K, et al. Expression of atrial and brain natriuretic peptides and their genes in hearts of patients with cardiac amyloidosis. J Am Coll Cardiol 31: 754-765, 1998.
22. Palladini G, Campana C, Klersy C, et al. Serum N-terminal pro-brain natriuretic peptide is a sensitive marker of myocardial dysfunction in AL amyloidosis. Circulation 107: 2440-2445, 2003.
23. Dispenzieri A, Kyle RA, Gertz MA, et al. Survival in patients with primary systemic amyloidosis and raised serum cardiac troponins. Lancet 361: 1787-1789, 2003.
24. Kyle RA, Gertz MA, Greipp PR, et al. A trial of three regimens for primary amyloidosis: colchicine alone, melphalan and prednisone, and melphalan, predonisone, and colchicine. N Engl J Med 336: 1202-1207, 1997.
25. Comenzo RL, Vosburgh E, Simms RW, et al. Dose-intensive melphalan with blood stem cell support for the treatment of AL amyloidosis: one year follow-up in five patients. Blood 88: 2801-2806, 1996.
26. Dember LM, Sanchorawala V, Seldin DC, et al. Effect of dose-intensive intravenous melphalan and autologous blood stem-cell transplantation on AL amyloidosis-associated renal disease. Ann Intern Med 134: 746-753, 2001.
27. van Gameren II, Hazenberg BP, Jager PL, Smit JW, Vellenga E. AL amyloidosis treated with induction chemotherapy with VAD followed by high dose melphalan and autologous stem cell transplantation. Amyloid 9: 165-174, 2002.
28. Comenzo RL, Gertz MA. Autologous stem cell transplantation for primary systemic amyloidosis. Blood 99: 4276-4282, 2002.
29. Skinner M, Sanchorawala V, Seldin DC, et al. High dose melphalan and autologous stem cell transplantation in patients with AL amyloidosis: an 8-year study. Ann Intern Med 140: 85-93, 2004.
30. Gono T, Matsuda M, Dohi N, et al. Gastrointesitinal lesions in primary AL amyloidosis. Gastrointest Endosc 56: 563, 2002.
31. Gono T, Matsuda M, Dohi N, et al. Nephrotic syndrome due to primary AL amyloidosis, successfully treated with VAD and subsequent high-dose melphalan followed by autologous peripheral blood stem cell transplantation. Intern Med 42: 72-77, 2003.
32. Gono T, Matsuda M, Shimojima, Y, et al. VAD with or without subsequent high-dose melphalan followed by autologous stem cell support in AL amyloidosis: Japanese criteria for patient selection and our experience. Amyloid (in press).
33. McGregor CGA, Rodeheffer RJ, Daly RC, et al. Heart transplantation in primary systemic amyloidosis. Amyloid and Amyloidosis. Parthenon Publishing, New York/London, 1999: 503-505.
34. Andrade C. A peculiar form of peripheral neuropathy: familial atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain 75: 408-427, 1952.
35. Andersson R. Familial amyloidosis with polyneuropathy. A clinical study on patients living in northern Sweden. Acta Med Scand Suppl 590: 1-64, 1976.
36. Araki S, Mawatari S, Ohta M, Nakajima A, Kuroiwa Y. Polyneuritic amyloidosis in a Japanese family. Arch Neurol 18: 593-602, 1968.
37. Kito S, Itoga E, Kamiya K, Kishida T, Yamamura Y. Studies on familial amyloid polyneuropathy in Ogawa Village, Japan. Eur Neurol 19 141-151, 1980.
38. Ikeda S, Hanyu N, Hongo M, et al. Hereditary generalized amyloidosis with polyneuropathy. Clinicopathological study of 65 Japanese patients. Brain 110: 315-337, 1987.
39. Ikeda S, Nakazato M, Ando Y, Sobue G. Familial transthyretin type amyloid polyneuropathy in Japan: clinical and genetic heterogeneity. Neurology 58: 1001-1007, 2002.
40. Connors LH, Lim A, Prokaeva T, Roskens VA, Costello CE. Tabulation of human transthyretin (TTR) variants, 2003. Amyloid 10: 160-184, 2003.
41. Falcao De Freitas A, Barbedo A. Conduction disturbances in 190 patients with familial amyloidotic polyneuropathy (Andrade's type). Adv Cardiol 21: 206-209, 1978.
42. Sawayama T, Kurihara T, Araki S. Noninvasive cardiovascular findings in familial amyloid polyneuropathy. Br Heart J 40: 1288-1292, 1978.
43. Olofsson BO, Andersson R, Furberg B. Atrioventricular and intraventricular conduction in familial amyloidosis with polyneuropathy. Acta Med Scand 208: 77-80, 1980.
44. Takahashi K, Sakashita N, Ando Y, Suga M, Ando M. Late onset type I familial amyloidotic polyneuropathy: presentation of three autopsy cases in comparison with 19 cases of the ordinary type. Pathol Int 47 353-359, 1997.
45. Nakamura Y, Yutani C, Nakazato M, Date Y, Baba T, Goto Y. A case of hereditary amyloidosis transthyretin variant Met 30 with amyloid cardiomyopathy, less polyneuropathy, and the presence of giant cells. Pathol Int 49: 898-902, 1999.
46. Hattori T, Takei Y, Koyama J, Nakazato M, Ikeda S. Clinical and pathological studies of cardiac amyloidosis in transthyretin type familial amyloid polyneuropathy. Amyloid 10: 229-239, 2003.
47. Koike H, Misu K, Ikeda S, et al. Type I (transthyretin Met30) familial amyloid polyneuropathy in Japan. Early-vs late-onset form. Arch Neurol 59: 1771-1776, 2002.
48. 55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement. Hum Genet 89: 353-356, 1992.
49. Takahashi N, Ueno S, Uemichi T, Fujimura H, Yorifuji S, Tarui S. Amyloid polyneuropathy with transthyretin Arg50 in a Japanese case from Osaka. J Neurol Sci 112: 58-64, 1992.
50. Hesse A, Altland K, Linke RP, et al. Cardiac amyloidosis: a review and report of a new transthyretin (prealbumin) variant. Br Heart J 70: 111-115, 1993.
51. Yazaki M, Takei Y, Katoh M, Ikeda S. Postmortem findings in two familial amyloidosis patients with transthyretin variant Asp38Ala. Amyloid 7: 270-277, 2000.
52. Mahloudji M, Teasdall R, Adamskiewicz J, Hartmann WH, Lambird PA, McKusick VA. The genetic amyloidosis with particular reference to hereditary neuropathic amyloidosis, type II (Indiana or Rukavina type). Medicine 48: 1-37, 1969.
53. Benson MD, Wallace MR, Tejada E, Baumann H, Page B. Hereditary amyloidosis: description of a new American kindred with late onset cardiomyopathy. Appalachian amyloid. Arthritis Rheum 30: 195-200, 1987.
54. Takei Y, Hattori T, Yazaki M, et al. Transthyretin Tyr69-to-Ile mutation (double-nucleotide substitution in codon 69) in a Japanese familial amyloidosis patient with cardiomyopathy and carpal tunnel syndrome. Amyloid 10: 25-28, 2003.
55. Lachmann HJ, Chir B, Booth DR, et al. Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. N Engl J Med 346 1786-1791, 2002.
56. Soprano DR, Herhert J, Soprano KJ, Schon EA, Goodman DS. Demonstration of transthyretin mRNA in the brain and other extrahepatic tissues. J Biol Chem 260: 11793-11798, 1985.
57. 30). Clin Genet 40: 242-246, 1991.
58. Ericzon B-G, Larsson M, Herlenius G, Wilczek HE. Report from the familial amyloidotic polyneuropathy world transplant registry (FAPWTR) and domino liver transplant registry (DLTR). Amyloid 10 (Suppl 1): 67-76, 2003.
59. Ikeda S, Takei Y, Yanagisawa N, et al. Partial liver transplantation from living donors in familial amyloid polyneuropathy. Amyloid 4: 18-23, 1997.
60. Takei Y, Ikeda S, Hashikura Y, Ikegami T, Kawasaki S. Partial-liver transplantation to treat familial amyloid polyneuropathy: follow-up of 11 patients. Ann Intern Med 131: 592-595, 1999.
61. Dubrey SW, Davidoff R, Skinner M, Bergethon P, Lewis D, Falk RH. Progression of ventricular wall thickening after liver transplantation for familial amyloidosis. Transplantation 64: 74-80, 1997.
62. Stangou AJ, Hawkins PN, Heaton ND, et al. Progressive cardiac amyloidosis following liver transplantation for familial amyloid polyneuropathy. Transplantation 66: 229-233, 1998.
63. Garcia-Herola A, Prieto M, Pascual S, et al. Progression of cardiomyopathy and neuropathy after liver transplantation in a patient with familial amyloidotic polyneuropathy caused by tyrosine-77 transthyretin variant. Liver Transpl Surg 5: 246-248, 1999.
64. Olofsson B-O, Backman C, Karp K, Suhr OB. Progression of cardiomyopathy after liver transplantation in patients with familial amyloid polyneuropathy, Portuguese type. Transplantation 73: 745-751, 2002.
65. Yazaki M, Tokuda T, Nakamura A, et al. Cardiac amyloid in patients with familial amyloid polyneuropathy consists of abundant wild-type transthyretin. Biochem Biophys Res Commun 274: 702-706, 2000.
66. Westermark P, Sletten K, Johansson B, Cornwell GG III. Fibril in senile systemic amyloidosis is derived from normal transthyretin. Proc Natl Acad Sci USA 87: 2843-2845, 1990.
67. Cornwell GG III, Murdoch WL, Kyle RA, Westermark P, Pitknen P. Frequency and distribution of senile cardiovascular amyloid. A clinicopathologic correlation. Am J Med 75: 618-623, 1983.
68. Westermark P, Johansson B, Natvig JB. Senile cardiac amyloidosis: evidence of two different amyloid substances in the ageing heart. Scand J Immunol 10: 303-308, 1979.
69. Kyle RA, Gertz MA, Linke RP. Amyloid localized to tenosynovium at carpal tunnel syndrome. Am J Clin Pathol 97: 250-253, 1992.
70. Takei Y, Hattori T, Gono T, et al. Senile systemic amyloidosis presenting as bilateral carpal, tunnel syndrome. Amyloid 9 252-255, 2002.
71. Takei Y, Hattori T, Tokuda T, et al. Senile systemic amyloidosis as bilateral carpal tunnel syndrome and left ulnar tunnel syndrome. Intern Med 42: 1050-1051, 2003.