Transthyretin-related amyloidoses and the heart: A clinical overview

Nature Reviews Cardiology

Volumn 7, Issue 7, 2010, Pages 398-408

  Rapezzi, Claudio ^a   Quarta, Candida Cristina ^a   Riva, Letizia ^a   Longhi, Simone ^a   Gallelli, Ilaria ^a   Lorenzini, Massimiliano ^a   Ciliberti, Paolo ^a   Biagini, Elena ^a   Salvi, Fabrizio ^b   Branzi, Angelo ^a  

^a UNIVERSITY OF BOLOGNA   (Italy)

^b BELLARIA HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ANGIOTENSIN RECEPTOR ANTAGONIST; ANTISENSE OLIGONUCLEOTIDE; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; DIFLUNISAL; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; DIURETIC AGENT; EPIGALLOCATECHIN GALLATE; IMMUNOGLOBULIN; METHIONINE; MIDODRINE; PHOSPHODIESTERASE INHIBITOR; PREALBUMIN; SMALL INTERFERING RNA; VALINE; WARFARIN;

AMYLOIDOSIS; ARTIFICIAL HEART PACEMAKER; CARDIOMYOPATHY; CARDIOVASCULAR DISEASE; CARDIOVERSION; CLINICAL FEATURE; CLINICAL TRIAL; CORONARY ARTERY DISEASE; DIAGNOSTIC ACCURACY; DIFFERENTIAL DIAGNOSIS; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; ERECTILE DYSFUNCTION; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; GEOGRAPHIC DISTRIBUTION; HEART AMYLOIDOSIS; HEART ATRIUM FIBRILLATION; HEART FAILURE; HEART SCINTISCANNING; HEART TRANSPLANTATION; HEART VENTRICLE HYPERTROPHY; HEREDITARY TRANSTHYRETIN RELATED HEART AMYLOIDOSIS; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; LIVER TRANSPLANTATION; NEUROLOGIC DISEASE; ORTHOSTATIC HYPOTENSION; PATHOGENESIS; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; PROGNOSIS; REVIEW; SENSORIMOTOR NEUROPATHY; THROMBUS; VITREOUS OPACITY;

ADULT; AGED; AGED, 80 AND OVER; AMYLOIDOSIS; AMYLOIDOSIS, FAMILIAL; CARDIOMYOPATHIES; FEMALE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MUTATION; MYOCARDIUM; PHENOTYPE; PREALBUMIN; PREDICTIVE VALUE OF TESTS; TREATMENT OUTCOME;

EID: 77954177629     PISSN: 17595002     EISSN: 17595010     Source Type: Journal    
DOI: 10.1038/nrcardio.2010.67     Document Type: Review

References (74)

1. Falk, R. H. & Dubrey, S. w. Amyloid heart disease. Prog. Cardiovasc. Dis. 52, 347-361 (2010).
2. Shah, K. B., Inoue, Y. & Mehra, M. R. Amyloidosis and the heart: a comprehensive review. Arch. Intern. Med. 166, 1805-1813 (2006).
3. Maron, B. J. et al. Contemporary definitions and classification of the cardiomyopathies: an American Heart Association scientific statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary working Groups; and Council on epidemiology and Prevention. Circulation 113, 1807-1816 (2006).
4. elliott, P. et al. Classification of the cardiomyopathies: a position statement from the european Society of Cardiology working Group on myocardial and pericardial diseases. Eur. Heart J. 29, 270-276 (2008).
5. westermark, P. et al. A primer of amyloid nomenclature. Amyloid 14, 179-183 (2007).
6. Planté-Bordeneuve, V. et al. Diagnostic pitfalls in sporadic transthyretin familial amyloid polyneuropathy (TTR-FAP). Neurology 69, 693-698 (2007).
7. Rapezzi, C. et al. Phenotypic and genotypic heterogeneity in transthyretin-related cardiac amyloidosis: towards tailoring of therapeutic strategies? Amyloid 13, 143-153 (2006).
8. Lachmann, H. J. et al. Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. N. Engl. J. Med. 346, 1786-1791 (2002).
9. The BeST Steering Committee. Design of the Beta-Blocker evaluation Survival Trial (BeST). Am. J. Cardiol. 75, 1220-1223 (1995).
10. Herlenius, G., wilczek, H. e., Larsson, M., ericzon, B. G. & Familial Amyloidotic Polyneuropathy world Transplant Registry. Ten years of international experience with liver transplantation for familial amyloidotic polyneuropathy: results from the Familial Amyloidotic Polyneuropathy world Transplant Registry. Transplantation 77, 64-71 (2004).
11. Sekijima, Y., Kelly, J. w. & Ikeda, S. Pathogenesis of and therapeutic strategies to ameliorate the transthyretin amyloidoses. Curr. Pharm. Des. 14, 3219-3230 (2008).
12. Dickson, P. w. et al. High prealbumin and transferrin mRNA levels in the choroid plexus of rat brain. Biochem. Biophys. Res. Commun. 127, 890-895 (1985).
13. Robbins, J. Thyroxine binding proteins. Prog. Clin. Biol. Res. 5, 331-355 (1976).
14. Benson, M. D. & Kincaid, J. C. The molecular biology and clinical features of amyloid neuropathy. Muscle Nerve 36, 411-423 (2007).
15. westermark, P., Sletten, K., Johansson, B. & Cornwell, G. G. Fibril in senile systemic amyloidosis is derived from normal transthyretin. Proc. Natl Acad. Sci. USA 87, 2843-2845 (1990).
16. Hou, X., Aguilar, M. I. & Small, D. H. Transthyretin and familial amyloidotic polyneuropathy. Recent progress in understanding the molecular mechanism of neurodegeneration. FEBS J. 274, 1637-1650 (2007).
17. Ando, Y., Nakamura, M. & Araki, S. Transthyretinrelated familial amyloidotic polyneuropathy. Arch. Neurol. 62, 1057-1062 (2005).
18. Rapezzi, C. et al. Systemic cardiac amyloidoses. Disease profiles and clinical courses of the three main types. Circulation 120, 1203-1212 (2009).
19. Dubrey, S. w., Burke, M. M., Hawkins, P. N. & Banner, N. R. Cardiac transplantation for amyloid heart disease-the United Kingdom experience. J. Heart Lung Transplant. 23, 1142-1153 (2004).
20. Lessell, S., wolf, P. A., Benson, M. D. & Cohen, A. S. Scalloped pupils in familial amyloidosis. N. Engl. J. Med. 293, 914-915 (1975).
21. Ikeda, S. Cardiac amyloidosis: heterogenous pathogenic backgrounds. Intern. Med. 43, 1107-1114 (2004).
22. Koyama, J. et al. 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 (2002).
23. Klein, A. L. et al. Doppler characterization of left ventricular diastolic function in cardiac amyloidosis. J. Am. Coll. Cardiol. 13, 1017-1026 (1989).
24. Andrade, C. A peculiar form of peripheral neuropathy. Familial atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain 75, 408-427 (1952).
25. Conceição, I. & De Carvalho, M. Clinical variability in type I familial amyloid polyneuropathy (Val30Met): comparison between late- and early-onset cases in Portugal. Muscle Nerve 35, 116-118 (2007).
26. Bittencourt, P. L. et al. Phenotypic expression of familial amyloid polyneuropathy in Brazil. Eur. J. Neurol. 12, 289-293 (2005).
27. Ikeda, S., Nakazato, M., Ando, Y. & Sobue, G. Familial transthyretin-type amyloid polyneuropathy in Japan: clinical and genetic heterogeneity. Neurology 58, 1001-1007 (2002). (Pubitemid 34298536)
28. Suhr, O. B. et al. Hereditary transthyretin amyloidosis from a Scandinavian perspective. J. Intern. Med. 254, 225-235 (2003).
29. Ohmori, H. et al. Common origin of the Val30Met mutation responsible for the amyloidogenic transthyretin type of familial amyloidotic polyneuropathy. J. Med. Genet. 41, 51-55 (2004).
30. Soares, M. L. et al. Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: genotype-phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and Sweden. Eur. J. Hum. Genet. 12, 225-237 (2004).
31. Hellman, U. et al. Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population. Amyloid 15, 181-186 (2008).
32. Jacobson, D. R. et al. Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans. N. Engl. J. Med. 336, 466-473 (1997).
33. Koeppen, A. H., wallace, M. R., Benson, M. D. & Altland, K. Familial amyloid polyneuropathy: alanine-for-threonine substitution in the transthyretin (prealbumin) molecule. Muscle Nerve 13, 1065-1075 (1990).
34. Yamamoto, K. et al. Familial amyloid polyneuropathy in Taiwan: identification of transthyretin variant (Leu55>Pro). Muscle Nerve 17, 637-641 (1994).
35. Mak, C. M. et al. Identification of a novel TTR Gly67Glu mutant and the first case series of familial transthyretin amyloidosis in Hong Kong Chinese. Amyloid 14, 293-297 (2007).
36. Jacobson, D. R. et al. Revised transthyretin Ile122 allele frequency in African-Americans. Hum. Genet. 98, 236-238 (1996).
37. Svendsen, I. H., Steensgaard-Hansen, F. & Nordvåg, B. Y. Hereditary amyloid cardiomyopathy related to a mutation at transthyretin protein number 111. A clinical, genetic and echocardiographic study of an affected Danish family. Ugeskr. Laeger. 161, 4995-4999 (1999).
38. Plante-Bordeneuve, V. et al. Genotypic- phenotypic variations in a series of 65 patients with familial amyloid polyneuropathy. Neurology 51, 708-714 (1998).
39. Gillmore, J. D., Booth, D. R., Pepys, M. B., Hawkins, P. N. Hereditary cardiac amyloidosis associated with the transthyretin Ile122 mutation in a white man. Heart 82, e2 (1999).
40. Rapezzi, C. et al. Gender-related risk of myocardial involvement in systemic amyloidosis. Amyloid 15, 40-48 (2008).
41. Ihse, e. et al. Amyloid fibril composition is related to the phenotype of hereditary transthyretin V30M amyloidosis. J. Pathol. 216, 253-261 (2008).
42. Rahman, J. e. et al. Noninvasive diagnosis of biopsy-proven cardiac amyloidosis. J. Am. Coll. Cardiol. 43, 410-415 (2004).
43. Murtagh, B. et al. electrocardiographic findings in primary systemic amyloidosis and biopsyproven cardiac involvement. Am. J. Cardiol. 95, 535-537 (2005).
44. Sun, J. P. et al. Differentiation of hypertrophic cardiomyopathy and cardiac amyloidosis from other causes of ventricular wall thickening by two-dimensional strain imaging echocardiography. Am. J. Cardiol. 103, 411-415 (2009).
45. Selvanayagam, J. B., Hawkins, P. N., Paul, B., Myerson, S. G. & Neubauer, S. evaluation and management of the cardiac amyloidoses. J. Am. Coll. Cardiol. 50, 2101-2110 (2007).
46. Koyama, J., Davidoff, R. & Falk, R. H. Longitudinal myocardial velocity gradient derived from pulsed Doppler tissue imaging in AL amyloidosis: a sensitive indicator of systolic and diastolic dysfunction. J. Am. Soc. Echocardiogr. 17, 36-44 (2004).
47. Maceira, A. M. et al. Cardiovascular magnetic resonance in cardiac amyloidosis. Circulation 111, 186-193 (2005).
48. Perugini, e. et al. Non-invasive evaluation of the myocardial substrate of cardiac amyloidosis by gadolinium cardiac magnetic resonance. Heart 92, 343-349 (2006).
49. Glaudemans, A. w. et al. Nuclear imaging in cardiac amyloidosis. Eur. J. Nucl. Med. Mol. Imaging 36, 702-714 (2009).
50. Hazenberg, B. P. et al. Diagnostic performance and prognostic value of extravascular retention of 123I-labeled serum amyloid P component in systemic amyloidosis. J. Nucl. Med. 48, 865-872 (2007).
51. Gertz, M. A. et al. Definition of organ involvement and treatment response in immunoglobulin light chain amyloidosis (AL): a consensus opinion from the 10th international symposium on amyloid and amyloidosis. Am. J. Hematol. 79, 319-328 (2005).
52. Kyle, R. A. & Gertz, M. A. Primary systemic amyloidosis: clinical and laboratory features in 474 cases. Semin. Hematol. 32, 45-59 (1995).
53. Merlini, G. & Palladini, G. Amyloidosis: is a cure possible? Ann. Oncol. 19, iv63-iv66 (2008).
54. Ng, B. et al. Senile systemic amyloidosis presenting with heart failure: a comparison with light chain-associated amyloidosis. Arch. Intern. Med. 165, 1425-1429 (2005).
55. Dubrey, S. w., Cha, K., Skinner, M., LaValley, M. & Falk, R. H. Familial and primary (AL) cardiac amyloidosis: echocardiographically similar diseases with distinctly different clinical outcomes. Heart 78, 74-82 (1997).
56. Berk, J. L. et al. Persistent pleural effusions in primary systemic amyloidosis: etiology and prognosis. Chest 124, 969-977 (2003).
57. Santarone, M. et al. Atrial thrombosis in cardiac amyloidosis: diagnostic contribution of transesophageal echocardiography. J. Am. Soc. Echocardiogr. 12, 533-536 (1999).
58. Gertz, M. A., Falk, R. H., Skinner, M., Cohen, A. S. & Kyle, R. A. worsening of congestive heart failure in amyloid heart disease treated by calcium channel-blocking agents. Am. J. Cardiol. 55, 1645 (1985).
59. Pollak, A. & Falk, R. H. Left ventricular systolic dysfunction precipitated by verapamil in cardiac amyloidosis. Chest 104, 618-620 (1993).
60. wright, B. L., Grace, A. A. & Goodman, H. J. Implantation of a cardioverter-defibrillator in a patient with cardiac amyloidosis. Nat. Clin. Pract. Cardiovasc. Med. 3, 110-114 (2006).
61. Becker, R., Katus, H. A. & Bauer, A. Prophylactic implantation of cardioverter-defibrillator in patients with severe cardiac amyloidosis and high risk for sudden cardiac death. Heart Rhythm 5, 235-240 (2008).
62. Falk, R. H., Rubinow, A. & Cohen, A. S. Cardiac arrhythmias in systemic amyloidosis: correlation with echocardiographic abnormalities. J. Am. Coll. Cardiol. 3, 107-113 (1984).
63. Freeman, R. Neurogenic orthostatic hypotension. N. Engl. J. Med. 358, 615-624 (2008).
64. Obayashi, K. et al. effect of sildenafil citrate (Viagra) on erectile dysfunction in a patient with familial amyloidotic polyneuropathy ATTR Val30Met. Auton. Nerv. Syst. 12, 89-92 (2000).
65. Dubrey, S. w. et al. Progression of ventricular wall thickening after liver transplantation for familial amyloidosis. Transplant 64, 74-80 (1997).
66. Yazaki, M. et al. Cardiac amyloid in patients with familial amyloid polyneuropathy consists of abundant wild-type transthyretin. Biochem. Biophys. Res. Commun. 274, 702-706 (2000).
67. Stangou, A. J., Heaton, N. D. & Hawkins, P. N. Transmission of systemic transthyretin amyloidosis by means of domino liver transplantation. N. Engl. J. Med. 352, 2356 (2005).
68. Arpesella, G. et al. Combined heart and liver transplantation for familial amyloidotic polyneuropathy. J. Thorac. Cardiovasc. Surg. 125, 1165-1166 (2003).
69. Ferreira, N. et al. Binding of epigallocatechin-3- gallate to transthyretin modulates its amyloidogenicity. FEBS Lett. 583, 3569-3576 (2009).
70. Palladini, G. et al. Serum N-terminal pro-brain natriuretic peptide is a sensitive marker of myocardial dysfunction in AL amyloidosis. Circulation 107, 2440-2445 (2003).
71. Perugini, e. et al. Noninvasive etiologic diagnosis of cardiac amyloidosis using 99mTc-3, 3-diphosphono-1, 2-propanodicarboxylic acid scintigraphy. J. Am. Coll. Cardiol. 46, 1076-1084 (2005).
72. Dispenzieri, A. et al. Survival in patients with primary systemic amyloidosis and raised serum cardiac troponins. Lancet 361, 1787-1789 (2003).
73. Dispenzieri, A. et al. Prognostication of survival using cardiac troponins and N-terminal pro-brain natriuretic peptide in patients with primary systemic amyloidosis undergoing peripheral blood stem cell transplantation. Blood 104, 1881-1887 (2004).
74. Suhr, O. B. et al. Do troponin and B-natriuretic peptide detect cardiomyopathy in transthyretin amyloidosis? J. Intern. Med. 263, 294-301 (2008).