Review Article of Cardiac Amyloidosis
Keywords:Amyloid, AL amyloidosis, cardiac amyloid
Cardiac amyloidosis is a term that means the deposit of abnormal proteins in the myocardium leading to global thickening of the heart walls. The clinical character is that of infiltrative cardiomyopathy. AL amyloidosis is the most common type that involves cardiac failure. Cardiac amyloid precedes clinical congestive heart failure, especially right-sided heart failure. Laboratory investigations have identified the amyloid fibril proteins deposited in the organ tissues. Immunofixation tests are the most sensitive that recognize the paraprotein mean light chain protein or immunoglobulin subtype deposit. Prognosis is poor if AL amyloidosis is untreated. Treatment of systemic involvement in AL amyloidosis is via chemotherapy such as melphalan and prednisolone. UK experts have reported the results of treatment in AL amyloidosis. Regardless of the use of adjunctive chemotherapy, the five-year survival after heart transplantation was generally poorer for AL (20 % at five years), but similar for non-AL amyloidosis (64 % at five years), than heart transplants in other cases. Progression of the systemic disease contributed to increased mortality. A specific treatment that increases the chances of survival is unknown.
S Morner, U Hellman, OB Suhr, E Kazzam and A Waldenstrom. Amyloid heart disease mimicking hypertrophic cardiomyopathy. J. Intern. Med. 2005; 258, 225-30.
J Koyama, PA Ray-Sequin, R Davidoff and RH Falk. Usefulness of pulsed tissue Doppler imaging for evaluating systolic and diastolic left ventricular dysfunction in patients with AL (primary) amyloidosis. Am. J. Cardiol. 2002; 89, 1067-71.
AM Maceira, J Joshi and SK Prasad. Cardiovascular magnetic resonance in cardiac amyloidosis. Circulation 2005; 111, 195-202.
PN Hawkins, JP Lavender and MB Pepys. Evaluation of systemic amyloidosis by scintigraphy with labelled 123I-labelled serum amyloid P component. New Engl. J. Med. 1990; 323, 508-13.
R Liao, M Jain, P Teller, LH Connors, S Ngoy, M Skinner, RH Falk and CS Apstein. Infusions of light chains from patients with cardiac amyloidosis causes diastolic dysfunction in mouse hearts. Circulation 2001; 104, 1594-7.
DA Brenner, M Jain, DR Pimentel, B Wang, LH Connors, M Skinner, CS Apstein and R Liao. Human amyloidogenic light chains directly impair cardiomyocyte function through an increase in cellular oxidant stress. Circ. Res. 2004; 94, 1008-10.
RA Kyle and MA Gertz. Primary systemic amyloidosis: clinical and laboratory features in 474 cases. Semin. Hematol. 1995; 32: 45-59.
RA Kyle, MA Gertz, PR Greipp, TE Witzig, JA Lust, MQ Lacy and TM Therneau. Long term survival (10 years or more) in 30 Patients with primary amyloidosis. Blood 1999; 93, 1062-6.
S Dubrey, K Cha, B Chamarsee, J Anderson, M Skinner and RH Falk. Primary (AL) cardiac amyloidosis: symptoms, signs and non-invasive investigations in 232 patients. Q. J. Med. 1998; 91, 141-57.
HJ Lachmann, DR Booth, SE Booth, A Bybee, JA Gilbertson, JD Gillmore, MB Pepys and PN Hawkins. Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. New Engl. J. Med. 2002; 346, 1786-91.
HJ Lachmann, JD Gillmore, JR Gillmore, HD Carr-Smith, AR Bradwell, MB Pepys, PN Hawkins. Guidelines on the diagnosis and management of AL amyloidosis. Brit. J. Haematol. 2004: 125, 681-700.
V Sanchorawala, DC Seldin, B Magnani, M Skinner and DG Wright. Serum free light chain responses after high-dose intravenous melphalan and autologous stem cell transplantation for AL (primary) amyloidosis. Bone Marrow Transpl. 2005; 36, 597-600.
HJ Lachmann, R Gallimore, JD Gillmore, HD Carr-Smith, AR Bradwell, MB Pepys and PN Hawkins. Outcome in systemic AL amyloidosis in relation to changes in concentration of circulating free immunoglobulin light chains following chemotherapy. Brit. J. Haematol. 2003; 122, 78-84.
RL Comenzo, E Vosburgh, RH Falk, V Sanchorawala, J Reisinger, S Dubrey, LM Dember, JL Berk, G Akpek, M LaValley, C O’Hara, CF Arkin, DG Wright and M Skinner. Dose-intensive melphalan with blood stem-cell support for the treatment of AL (amyloid light chain) amyloidosis: survival and responses in 25 patients. Blood 1998; 91, 3662-70.
M Skinner, V Sanchorawala, DC Seldin, LM Dember, RH Falk, JL Berk, JJ Anderson, C O’Hara, KT Finn, CA Libbey, J Wiesman, K Quillen, N Swan and DG Wright. High-dose melphalan and autologous stem-cell transplantation in patients with AL amyloidosis: an 8 year study. Ann. Intern. Med. 2004; 140, 85-93.
PN Mollee, AD Wechalekar, DL Pereira, N Franke, D Reece, C Chen and AK Stewart. Autologous stem cell transplantation in primary systemic amyloidosis: the impact of selection criteria on outcome. Bone Marrow Transpl. 2004; 33, 271-7.
DC Seldin, EB Choufani, LM Dember, JF Wiesman, JL Berk, RH Falk, C O’Hara, S Fennessey, KT Finn, DG Wright, M Skinner and V Sanchorawala. Tolerability and efficacy of thalidomide for the treatment of subjects with light chain-associated (AL) amyloidosis. Clin. Lymphoma. 2003; 3, 241-6.
A Dispenzieri, MQ Lacy, SV Rajkumar, SM Geyer, TE Witzig, R Fonseca, JA Lust, PR Greipp, RA Kyle and MA Gertz. Poor tolerance to high doses of thalidomide in subjects with primary systemic amyloidosis. Amyloid 2003; 10, 257-61.
G Palladini, V Perfetti, S Perlini, L Obici, F Lavatelli, R Caccialanza, R Invernizzi, B Comotti and G Merlini. The combination of thalidomide and intermediate-dose dexamethasone is an effective but toxic treatment for patients with primary amyloidosis (AL). Blood 2005; 105, 2949-51.
MA Hussein, JV Juturi, L Rybicki, S Lutton, BR Murphy and MA Karam. Etanercept therapy in patients with advanced primary amyloidosis. Med. Oncol. 2003; 20, 283-90.
L Gianni, V Bellotti, AM Gianni and G Merlini. New drug therapy of amyloidosis: resorption of AL-type deposits with 4’-iodo-4’deoxydoxorubicin. Blood 1995; 86, 855-61.
G Merlini, E Anesi, P Garini, V Perfetti, L Obici, E Ascari, MJ Lechuga, G Capri and L Gianni. Treatment of AL amyloidosis with 4’-iodo-4’deoxydoxorubicin: an update. Blood 1999; 93, 1112-3.
MA Gertz, MQ Lacy, A Dispenzieri, BD Cheson, B Barlogie, RA Kyle, G Palladini, SM Geyer and G Merlini. A multicenter phase II trial of 4’-iodo-4’deoxydoxorubicin (IDOX) in primary amyloidosis (AL). Amyloid 2002; 9, 24-30.
SW Dubrey, MM Burke, PN Hawkins, NR Banner. Cardiac transplantation for amyloid heart disease - the United Kingdom experience. J. Heart Lung Transpl. 2004; 23, 1142-53.
JD Hosenpud, T DeMarco, OH Frazier, BP Griffith, BF Uretsky, AH Menkis, JB O’Connell, MT Olivari and HA Valantine. Progression of systemic disease and reduced long term survival in patients with cardiac amyloidosis undergoing heart transplantation. Circulation 1991; 84, III338-43.
S Dubrey, K Cha, M Skinner, M LaValley and RH Falk. Familial and primary (AL) cardiac amyloidosis: echocardiographically similar diseases with distinctly different clinical outcomes. Heart 1997; 78, 74-82.
G Holmgren, BG Ericzon, CG Groth, O Andersen, BG Wallin, A Seymour, S Richardson, PN Hawkins and MB Pepys. Clinical improvement and amyloid regression after liver transplantation in hereditary transthyretin amyloidosis. Lancet 1993; 341, 1113-6.
S Zeldenrust, M Gertz, T Uemichi, J Björnsson, R Wiesner, T Schwab and M Benson. Orthotopic liver transplantation for hereditary fibrinogen amyloidosis. Transplantation 2003; 75, 560-1.
SW Dubrey, R Davidoff, M Skinner, P Bergethon, D Lewis and R Falk. Progression of ventricular wall thickening after liver transplantation for familial amyloidosis. Transplantation 1997; 64, 74-80.
M Yazaki, T Tokuda, A Nakamura, T Higashikata, J Koyama, K Higuchi, Y Harihara, S Baba, F Kametani and S Iked. Cardiac amyloid in patients with familial amyloid polyneuropathy consists of abundant wild-type transthyretin. Biochem. Bioph. Res. Co. 2000; 274, 702-6.
P Westermark, K Sletten, B Johansson and GG III Cornwell. Fibril in senile systemic amyloidosis is derived from normal transthyretin. P. Natl. Acad. Sci. USA. 1990; 87, 2843-5.
RA Kyle, PC Spittell, MA Gertz, CY Li, WD Edwards, LJ Olson and SN Thibodeau. The premortem recognition of systemic senile amyloidosis with cardiac involvement. Am. J. Med. 1996; 101, 395-400.
B Ng, LH Connors, R Davidoff, M Skinner and RH Falk. Senile systemic amyloidosis presenting with heart failure: a comparison with light chain associated amyloidosis. Arch. Intern. Med. 2005; 165, 1425-9.
SW Dubrey, K Cha, RW Simms, M Skinner and RH Falk. Electrocardiography and Doppler echocardiography in secondary (AA) amyloidosis. Am. J. Cardiol. 1996; 77, 313-15.
GC Kaye, MG Butler, AJ d’Ardenne, SJ Edmondson, AJ Camm and G Slavin. Isolated atrial amyloid contains atrial natriuretic peptide: a report of six cases. Brit. Heart J. 1986; 56, 317-20.
S Kawamura, M Takahashi, T Ishihara and F Uchino. Incidence and distribution of isolated atrial amyloid: histologic and immunohistochemical studies of 100 aging hearts. Pathol. Int. 1995; 45, 335-42.
How to Cite
Copyright (c) 2011 Walailak University
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.