Cardiac amyloidosis: The heart of the matter

Internal and Emergency Medicine

Volumn 8, Issue 3, 2013, Pages 191-203

  Perfetto, Federico ^a,b   Cappelli, Francesco ^b   Bergesio, Franco ^a   Ciuti, Gabriele ^a   Porciani, Maria Cristina ^b   Padeletti, Luigi ^b   Moggi Pignone, Alberto ^a  

^a CAREGGI UNIVERSITY HOSPITAL   (Italy)

^b UNIVERSITY OF FLORENCE   (Italy)

Author keywords

Amyloidosis; Restrictive cardiomyopathy; Tissue Doppler imaging; Transthyretin

Indexed keywords

EID: 84875699822     PISSN: 18280447     EISSN: 19709366     Source Type: Journal    
DOI: 10.1007/s11739-011-0647-y     Document Type: Review

References (73)

1. Dubrey SW, Cha K, Anderson J et al (1998) The clinical features of immunoglobulin light-chain (AL) amyloidosis with heart involvement. QJM 91: 141-157.
2. Kyle RA, Gertz MA (1995) Primary systemic amyloidosis: clinical and laboratory features in 474 cases. Semin Hematol 32: 45-59.
3. Kyle RA, Linos A, Beard CM et al (1992) Incidence and natural history of primary systemic amyloidosis in Olmsted County, Minnesota, 1950 through 1989. Blood 79: 1817-1822.
4. Hazembergh BPC, van Rijswisk MH (2000) Aspects cliniques de l'amylose AA. In: Grateau G, Benson MD, Delpech M (eds) Les Amyloses. Médicine-Sciences Flammarion, Paris, pp 377-427.
5. Magy-Bertrand N, Dupond JL, Mauny F, Dupond AS, Duchene F, Gil H, Kantelip B, The CRISAP Members (2008) Incidence of amyloidosis over 3 years: the AMYPRO study. Clin Exp Rheum 26: 1074-1078.
6. Obici L, Perfetti V, Palladini G, Moratti R, Merlini G (2005) Clinical aspects of systemic amyloid diseases. Biochem Biophys Acta 1753: 11-22.
7. Park MA, Mueller PS, Kyle RA et al (2003) Primary (AL) hepatic amyloidosis: clinical features and natural history in 98 patients. Medicine 82: 291-298.
8. Nestle FO, Burg G (2001) Bilateral carpal tunnel syndrome as a clue for the diagnosis of systemic amyloidosis. Dermatology 202: 353-355.
9. Pettersson T, Konttinen YT, Maury CPJ (2008) Treatment strategies for amyloid A amyloidosis. Expert Opin Pharmacother 9(12): 2117-2128.
10. Hawkins PN (2002) Serum amyloid P component scintigraphy for diagnosis and monitoring amyloidosis. Curr Opin Nephrol Hypertens 11: 649-655.
11. Gertz MA, Kyle RA (1991) Secondary systemic amyloidosis: response and survival in 64 patients. Medicine 70: 246-256.
12. Benson MD, Kincaid JC (2007) The molecular biology and clinical features of amyloid neuropathy. Muscle Nerve 36: 411-423.
13. Cornwell GG III, Murdoch WL, Kyle RA, Westermark P, Pitkanen P (1983) Frequency and distribution of senile cardiovascular amyloid: a clinicopathologic correlation. Am J Med 75: 618-623.
14. Murtagh B, Hammill SC, Gertz MA et al (2005) Electrocardiographic findings in primary systemic amyloidosis and biopsy-proven cardiac involvement. Am J Cardiol 95: 535-537.
15. Feng D, Edwards WD, Krishnaswamy JKO et al (2007) Intracardiac thrombosis and embolism in patients with cardiac amyloidosis. Circulation 116: 2420-2426.
16. Mueller PS, Edwards WD, Gertz MA (2000) Symptomatic ischemic heart disease resulting from obstructive intramural coronary amyloidosis. Am J Med 109: 181-188.
17. Chamarthi B, Dubrey SW, Cha K et al (1997) Features and prognosis of exertional syncope in light-chain associated AL cardiac amyloidosis. Am J Cardiol 80: 1242-1245.
18. Falk RH, Rubinow A, Cohen AS (1984) Cardiac arrhythmias in systemic amyloidosis: correlation with echocardiographic abnormalities. J Am Coll Cardiol 3: 107-113.
19. Falk RH, Plehn J, Deering T et al (1987) Sensitivity and specificity of the echocardiographic features of cardiac amyloidosis. Am J Cardiol 59: 418-422.
20. Klein AL, Hatle LK, Taliercio CP et al (1990) Serial Doppler echocardiographic follow-up of left ventricular diastolic function in cardiac amyloidosis. J Am Coll Cardiol 16: 1135-1141.
21. Rahman JE, Helou EF, Gelzer-Bell R et al (2004) Noninvasive diagnosis of biopsy-proven cardiac amyloidosis. J Am Coll Cardiol 43: 410-415.
22. Bhandari AK, Nanda NC (1983) Myocardial texture characterization by two-dimensional echocardiography. Am J Cardiol 51: 817-825.
23. Simons M, Isner JM (1992) Assessment of relative sensitivities of noninvasive tests for cardiac amyloidosis in documented cardiac amyloidosis. Am J Cardiol 69: 425-427.
24. Hongo M, Kono J, Yamada H et al (1991) Doppler echocardiographic assessments of left ventricular diastolic filling in patients with amyloid heart disease. J Cardiol 21: 391-401.
25. Koyama J, Ray-Sequin PA, Davidoff R et al (2002) Usefulness of pulsed tissue Doppler imaging for evaluating systolic and diastolic left ventricular function in patients with AL (primary) amyloidosis. Am J Cardiol 89: 1067-1071.
26. Porciani MC, Lilli A, Perfetto F et al (2009) Tissue Doppler and strain imaging: a new tool for early detection of cardiac amyloidosis. Amyloid 16: 63-70.
27. Koyama J, Ray-Sequin PA, Falk RH (2003) 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.
28. Porciani MC, Cappelli F, Perfetto F et al (2010) Rotational mechanics of the left ventricle in AL amyloidosis. Echocardiography 27: 1061-1068.
29. Notomi Y, Martin-Miklovic MG, Oryszak SJ, Shiota T, Deserranno D, Popovic ZB, Garcia MJ, Greenberg NL, Thomas JD (2006) Enhanced ventricular untwisting during exercise: a mechanistic manifestation of elastic recoil described by Doppler tissue imaging. Circulation 113: 2524-2533.
30. Rapezzi C, Merlini G, Quarta CC et al (2009) Systemic cardiac amyloidoses: disease profiles and clinical courses of the 3 main types. Circulation 120: 1203-1212.
31. Maceira AM, Joshi J, Prasad SK, Moon JC, Perugini E et al (2005) Cardiovascular magnetic resonance in cardiac amyloidosis. Circulation 111: 186-193.
32. Perugini E, Rapezzi C, Piva T et al (2006) Non-invasive evaluation of the myocardial substrate of cardiac amyloidosis by gadolinium cardiac magnetic resonance. Heart 92: 343-349.
33. Perugini E, Guidalotti PL, Salvi F et al (2005) Noninvasive etiologic diagnosis of cardiac amyloidosis using 99mTc-3, 3-diphosphono-1, 2-propanodicarboxylic acid scintigraphy. J Am Coll Cardiol 46: 1076-1084.
34. Dispenzieri A, Kyle RA, Gertz MA et al (2003) Survival in patients with primary systemic amyloidosis and raised serum cardiac troponins. Lancet 361: 1787-1789.
35. Dispenzieri A, Gertz M, Kyle R et al (2004) Serum cardiac troponins and N-terminal probrain natriuretic peptide: a staging system for primary systemic amyloidosis. J Clin Oncol 22(18): 3751-3757.
36. Palladini G, Lavatelli F, Russo P et al (2006) Circulating amyloidogenic free light chains and serum N-terminal natriuretic peptide type B decrease simultaneously in association with improvement of survival in AL. Blood 107: 3854-3858.
37. Kristen AV, Giannitsis E, Lehrke S, Hegenbart U, Konstandin M et al (2010) Assessment of disease severity and outcome in patients with systemic light-chain amyloidosis by the high-sensitivity troponin-T assay. Blood 116: 2455-2461.
38. Palladini G, Barassi A, Klersy C, Pacciolla R, Milani P et al (2010) The combination of high-sensitivity cardiac troponin T (hs-cTnT) at presentation and changes in N-terminal natriuretic peptide type B (NT-proBNP) after chemotherapy best predicts survival in AL amyloidosis. Blood 116: 3426-3430.
39. Gertz MA, Merlini G (2010) Definition of organ involvement and response to treatment in AL amyloidosis: un updated consensus opinion (abstract). Amyloid 17(s1): 48.
40. Duston MA, Skinner M, Meenan RF, Cohen AS (1989) Sensitivity, specificity, and predictive value of abdominal fat aspiration for the diagnosis of amyloidosis. Arthritis Rheum 32: 82-85.
41. Lavatelli F, Perlman DH, Spencer B et al (2008) Amyloidogenic and associated proteins in systemic amyloidosis proteome of adipose tissue. Mol Cell Proteomics 7: 1570-1583.
42. Falk RH, Comenzo RL, Skinner M (1997) The systemic amyloidoses. N Engl J Med 337: 898-909.
43. Cueto-Garcia L, Reeder GS, Kyle RA et al (1985) Echocardiographic findings in systemic amyloidosis: spectrum of cardiac involvement and relation to survival. J Am Coll Cardiol 6: 737-743.
44. Klein AL, Hatle LK, Taliercio CP et al (1991) Prognostic significance of Doppler measures of diastolic function in cardiac amyloidosis. Circulation 83: 808-816.
45. Ghio S, Perlini S, Palladini G et al (2007) Importance of the echocardiographic evaluation of right ventricular function in patients with AL amyloidosis. Eur J Heart Fail 9: 808-813.
46. Koyama J, Falk RH (2010) Prognostic significance of strain Doppler imaging in light-chain amyloidosis. J Am Coll Cardiol Imag 3: 333-342.
47. Bellavia D, Pellikka PA, Al-Zahrani GB et al (2010) Independent predictors of survival in primary systemic (AL) amyloidosis, including cardiac biomarkers and left ventricular strain imaging: an observational cohort study. J Am Soc Echocardiogr 23: 643-652.
48. Gillmore JD, Lovat LB, Persey MR, Pepys MB, Hawkins PN (2001) Amyloid load and clinical outcome in AA amyloidosis in relation to circulating concentration of serum amyloid A protein. Lancet 358: 24-29.
49. Bergesio F, Ciciani AM, Manganaro M, Palladini G, Santostefano M, Brugnano R (2008) Renal involvement in systemic amyloidosis An Italian collaborative study on survival and renal outcome Nephrol. Dial Transplant 2: 941-951.
50. Lachmann HJ, Goodman HJB, Gilbertson JA et al (2007) Natural history and outcome in systemic AA amyloidosis. N Engl J Med 356: 2361-2371.
51. Rapezzi, C. Perugini E, Salvi F et al. (2006) Phenotypic and genotypic heterogeneity in transthyretin-related cardiac amyloidosis: towards tailoring of therapeutic strategies? Amyloid 13: 143-153.
52. Rapezzi C, Quarta CC, L Riva et al (2010) Transthyretin-related amyloidoses and the heart: a clinical overview. Nat Rev Cardiol 7: 398-408.
53. Ng B, Connors LH, Davidoff R, Skinner M, Falk RH (2005) Senile systemic amyloidosis presenting with heart failure: a comparison with light chain-associated amyloidosis. Arch Intern Med 165: 1425-1429.
54. Dubrey SW, Cha K, Skinner M, LaValley M, Falk RH (1997) Familial and primary (AL) cardiac amyloidosis: echocardiographically similar diseases with distinctly different clinical outcomes. Heart 78: 74-82.
55. Pollak A, Falk RH (1993) Left ventricular systolic dysfunction precipitated by verapamil in cardiac amyloidosis. Chest 104: 618-620.
56. Rubinow A, Skinner M, Cohen AS (1981) Digoxin sensitivity in amyloid cardiomyopathy. Circulation 63: 1285-1288.
57. Dubrey S, Pollak A, Skinner M, Falk RH (1995) Atrial thrombi occurring during sinus rhythm in cardiac amyloidosis: evidence for atrial electromechanical dissociation. Br Heart J 74: 541-544.
58. Kristen AV, Dengler TJ, Hegenbart U, Schonland SO, Goldschmidt H et al (2008) Prophylactic implantation of cardioverter-defibrillator in patients with severe cardiac amyloidosis and high risk for sudden cardiac death heart rhythm. Heart Rhythm 5: 235-240.
59. Skinner M, Sanchorawala V, Seldin DC et al (2004) High-dose melphalan and autologous stem-cell transplantation in patients with AL amyloidosis: an 8-year study. Ann Intern Med 140: 85-93.
60. Sanchorawala V, Wright DG, Seldin DC et al (2004) High-dose intravenous melphalan and autologous stem cell transplantation as initial therapy or following two cycles of oral chemotherapy for the treatment of AL amyloidosis: results of a prospective randomized trial. Bone Marrow Transplant 33: 381-388.
61. Palladini G, Perfetti V, L Obici et al (2004) The association of melphalan and high-dose dexamethasone is effective and well tolerated in patients with AL (primary) amyloidosis ineligible for stem cell transplantation. Blood 103: 2936-2938.
62. Palladini G, Perfetti V, Perlini S et al (2005) The combination of thalidomide and intermediate dose dexamethasone is an effective but toxic treatment for patients with primary amyloidosis (AL). Blood 105: 2949-2951.
63. Sanchorawala V, Finn KT, Fennessey S et al (2007) Lenalidomide and dexamethasone in the treatment of AL amyloidosis: results of a phase 2 trial. Blood 109: 492-496.
64. Moreau P, Jaccard A, Benboubker L et al (2010) Lenalidomide in combination with melphalan and dexamethasone in patients with newly-diagnosed AL amyloidosis: a multicenter phase 1/2 dose escalation study. Blood 116: 4777-4782.
65. Kumar S, Hayman SR, Buadi F et al. (2009) A phase II trial of lenalidomide, cyclophosphamide and dexamethasone (RCD) in patients with light chain amyloidosis. Blood (ASH Annual Meeting Abstracts) 114 (abstr 3853).
66. Dispenzieri A, Gertz MA, Hayman SR et al (2010) Pomalidomide and dexamethasone for previously treated AL: a phase 2 study. Amyloid 17(s1): 87.
67. Reece D, Sanchorawala V, Hegenbart U et al (2009) Weekly and twice-weekly bortezomib in patients with systemic AL-amyloidosis: results of a phase 1 dose escalation study. Blood 114: 1489-1497.
68. Wechalekar AD, Lachmann HJ, Offer M, Hawkins PN, Gillmore JD (2008) Efficacy of bortezomib in systemic AL amyloidosis with relapsed/refractory clonal disease. Haematologica 93: 295-298.
69. Kastritis E, Anagnostopoulos A, Roussou M et al (2007) Treatment of light chain (AL) amyloidosis with the combination of bortezomib and dexamethasone. Haematologica 92: 1351-1358.
70. Kastritis E, Wechalekar AD, Dimopoulos MA et al (2010) Bortezomib with or without dexamethasone in primary systemic (light chain) amyloidosis. J Clin Oncol 28: 1031-1037.
71. Drewe E, Huggins ML, Morgan AG, Cassidy MJ, Powell RJ (2004) Treatment of renal amyloidosis with etanercept in tumour necrosis factor receptor-associated periodic syndrome. Rheumatology 43: 1405-1408.
72. Miller SR, Sekijima Y, Kelly JW (2004) Native state stabilization by NSAIDs inhibits transthyretin amyloidogenesis from the most common familial disease variants. Lab Invest 84: 545-552.
73. Coelho T, Maia L, Martin da Silva A (2010) Tafamidis (Fx-1006A): a first-in-class disease-modifying therapy for transthyretin familial amyloid. Amyloid 17(S1): 75-76.