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Transthyretin Amyloid Cardiomyopathy
(TTR-CM)
Key Literature References
Diagnosis of Cardiac Amyloid:
Eshaghian S, Kaul S, Shah PK. Cardiac amyloidosis: new insights into diagnosis and management.
Rev Cardiovasc Med. 2007 Fall; 8 (4):189-99.
Falk RH. Diagnosis and management of the cardiac amyloidoses.
Circulation. 2005 Sep 27; 112(13):2047-60. Review.
O'Hara CJ, Falk RH. The diagnosis and typing of cardiac amyloidosis.
Amyloid. 2003 Jun; 10(2):127-9.
Sawyer DB, Skinner M. Cardiac amyloidosis: shifting our impressions to hopeful.
Curr Heart Fail Rep. 2006 Jun;3(2):64-71. Review.
Transthyretin Cardiac Amyloidosis:
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. 1987 Feb; 30(2):195-200.
Cornwell GG III, Murdoch WL, Kyle RA, Westermark P, Pitkanen P. Frequency and distribution of senile cardiovascular amyloid.
A clinicopathologic correlation.
Am J Med. 1983; 75:61823.
Dubrey SW, Davidoff R, Skinner M, Bergethon P, Lewis D, Falk RH. Progression of ventricular wall thickening after liver transplantation for familial amyloidosis. Transplantation. 1997 Jul 15;64(1):74-80.
Hattori T, Takei Y, Koyama J, Nakazato M, Ikeda S. Clinical and pathological studies of cardiac amyloidosis in transthyretin type familial amyloid polyneuropathy. Amyloid. 2003; 10:22939.
Hesse A, Altland K, Linke RP, Almeida MR, Saraiva MJ, Steinmetz A, Maisch B. Cardiac amyloidosis: a review and report of a new transthyretin (prealbumin) variant. Br Heart J. 1993 Aug; 70(2):111-5. Review.
Ikeda S. Cardiac amyloidosis: heterogeneous pathogenic backgrounds. Intern Med. 2004; 43:110714.
Jacobson DR, Pastore R, Pool S, Malendowicz S, Kane I, Shivji A, Embury SH, Ballas SK, Buxbaum JN. Revised transthyretin Ile 122 allele frequency in African-Americans. Hum Genet. 1996; 98:2368.
Jacobson DR, Pastore RD, Yaghoubian R, Kane I, Gallo G, Buck FS, Buxbaum JN. Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans. N Engl J Med. 1997; 336:46673.
Jiang X, Buxbaum JN, Kelly JW. The V122I cardiomyopathy variant of transthyretin increases the velocity of rate-limiting tetramer dissociation, resulting in accelerated amyloidosis. Proc Natl Acad Sci USA. 2001 Dec 18; 98(26):14943-8.
Mörner S, Hellman U, Suhr OB, Kazzam E, Waldenström A. Amyloid heart disease mimicking hypertrophic cardiomyopathy.
J Intern Med. 2005 Sep; 258(3):225-30.
Ng B, Connors LH, Davidoff R, Skinner M, Falk RH. Senile systemic amyloidosis presenting with heart failure: a comparison with light chain-associated amyloidosis. Arch Intern Med. 2005; 165:14259.
Pitkänen P, Westermark P, Cornwell GG 3rd. Senile systemic amyloidosis.
Am J Pathol. 1984 Dec; 117 (3):391-9.
Rapezzi C, Perugini E, Salvi F, Grigioni F, Riva L, Cooke RM, Ferlini A, Rimessi P, Bacchi-Reggiani L, Ciliberti P, Pastorelli F, Leone O, Bartolomei I, Pinna AD, Arpesella G, Branzi A. Phenotypic and genotypic heterogeneity in transthyretin-related cardiac amyloidosis: towards tailoring of therapeutic strategies?
Amyloid. 2006 Sep; 13(3):143-53.
Rapezzi C, Riva L, Quarta CC, Perugini E, Salvi F, Longhi S, Ciliberti P, Pastorelli F, Biagini E, Leone O, Cooke RM, Bacchi-Reggiani L, Ferlini A, Cavo M, Merlini G, Perlini S, Pasquali S, Branzi A. Gender-related risk of myocardial involvement in systemic amyloidosis. Amyloid. 2008 Mar; 15(1):40-8.
Sawabe M, Hamamatsu A, Ito T, Arai T, Ishikawa K, Chida K, Izumiyama N, Honma N, Takubo K, Nakazato M. Early pathogenesis of cardiac amyloid deposition in senile systemic amyloidosis: close relationship between amyloid deposits and the basement membranes of myocardial cells. Virchows Arch. 2003 Mar; 442(3):252-7. Epub 2003 Feb 26.
Suhr OB, Anan I, Backman C, Karlsson A, Lindqvist P, Mörner S, Waldenström A. Do troponin and B-natriuretic peptide detect cardiomyopathy in transthyretin amyloidosis? J Intern Med. 2008 Mar; 263(3):294-301. Epub 2007 Dec 5.
Westermark P, Johansson B, Natvig JB. Senile cardiac amyloidosis: evidence of two different amyloid substances in the ageing heart. Scand J Immunol. 1979; 10:3038.
Westermark P, Sletten K, Johansson B, Cornwell GG III. Fibril in senile systemic amyloidosis is derived from normal transthyretin. Proc Natl Acad Sci USA. 1990; 87:28435.
Westermark P, Bergström J, Solomon A, Murphy C, Sletten K. Transthyretin-derived senile systemic amyloidosis: clinicopathologic and structural considerations. Amyloid. 2003 Aug; 10 Supp. l1:48-54.
Yazaki M, Tokuda T, Nakamura A, Higashikata T, Koyama J, Higuchi K, Harihara Y, Baba S, Kametani F, Ikeda S. Cardiac amyloid in patients with familial amyloid polyneuropathy consists of abundant wild-type transthyretin. Biochem Biophys Res Commun. 2000; 274:7026.
Yamashita T, Asl KH, Yazaki M, Benson MD. A prospective evaluation of the transthyretin Ile122 allele frequency in an
African-American population. Amyloid. 2005; 12:12730.
Transthyretin Amyloidosis:
Benson MD, Uemichi T. Transthyretin amyloidosis. Amyloid:Int J ExpClin Invest. 1996; 3:4456.
Saraiva MJ. Transthyretin mutations in health and disease. Hum Mutat. 1995;5(3):191-6. Review.
Saraiva MJ. Hereditary transthyretin amyloidosis: molecular basis and therapeutical strategies.
Expert Rev Mol Med. 2002; 2002:111.
Varga J, Wohlgethan JR. The clinical and biochemical spectrum of hereditary amyloidosis.
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