Amyloid heart disease mimicking hypertrophic cardiomyopathy

Journal of Internal Medicine

Volumn 258, Issue 3, 2005, Pages 225-230

  Mörner, Stellan ^a   Hellman, U ^a   Suhr, O B ^a   Kazzam, E ^a,b   Waldenstrom A ^a  

^a UMEÅ UNIVERSITY HOSPITAL   (Sweden)

^b UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

Author keywords

Familial amyloid polyneuropathy; Genetics; Hypertrophic cardiomyopathy; Mutation

Indexed keywords

CELL PROTEIN; PREALBUMIN;

ADULT; AGED; CLINICAL ARTICLE; CONFERENCE PAPER; CONTROLLED STUDY; FAMILIAL AMYLOID POLYNEUROPATHY; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; HEART AMYLOIDOSIS; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MALE; PHENOTYPE; PRIORITY JOURNAL; SWEDEN;

ADULT; AGED; AGED, 80 AND OVER; AMYLOID NEUROPATHIES, FAMILIAL; CARDIOLOGY SERVICE, HOSPITAL; CARDIOMYOPATHY, HYPERTROPHIC; CROSS-SECTIONAL STUDIES; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; HUMANS; MALE; MIDDLE AGED; POINT MUTATION; PREALBUMIN;

EID: 24144465811     PISSN: 09546820     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2796.2005.01522.x     Document Type: Conference Paper

References (26)

1. Towbin J, Roberts R. Cardiovascular diseases due to genetic abnormalities. In: Schlant RC, Alexander RW, eds. Hurst's The Heart: Arteries and Veins, 8th edn. New York, USA: McGraw-Hill Inc., 1994; 1725-59.
2. Maron BJ, Gardin JM, Flack JM, Gidding SS, Kurosaki TT, Bild DE. Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary artery risk development in (young) adults [see comments]. Circulation 1995; 92: 785-9.
3. Maron BJ, Nichols PF, III, Pickle LW, Wesley YE, Mulvihill JJ. Patterns of inheritance in hypertrophic cardiomyopathy: assessment by M-mode and two-dimensional echocardiography. Am J Cardiol 1984; 53: 1087-94.
4. Marian AJ, Roberts R. The molecular genetic basis for hypertrophic cardiomyopathy. J Mol Cell Cardiol 2001; 33: 655-70.
5. Cannan CR, Reeder GS, Bailey KR, Melton LJ III, Gersh BJ. Natural history of hypertrophic cardiomyopathy. A population-based study, 1976 through 1990. Circulation 1995; 92: 2488-95.
6. Cecchi F, Olivotto I, Montereggi A, Santoro G, Dolara A, Maron BJ. Hypertrophic cardiomyopathy in Tuscany: clinical course and outcome in an unselected regional population. J Am Coll Cardiol 1995; 26: 1529-36.
7. Westermark P, Sletten K, Johansson B, Cornwell GG III. Fibril in senile systemic amyloidosis is derived from normal transthyretin. Proc Natl Acad Sci U S A 1990; 87: 2843-5.
8. Kyle RA, Spittell PC, Gertz MA et al. The premortem recognition of systemic senile amyloidosis with cardiac involvement. Am J Med 1996; 101: 395-400.
9. Jacobson DR, Pastore RD, Yaghoubian R et al. Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans. N Engl J Med 1997; 336: 466-73.
10. Connors LH, Lim A, Prokaeva T, Roskens VA, Costello CE. Tabulation of human transthyretin (TTR) variants, 2003. Amyloid 2003; 10: 160-84.
11. Sousa A, Coelho T, Barros J, Sequeiros J. Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)-type I in Povoa do Varzim and Vila do Conde (north of Portugal). Am J Med Genet 1995; 60: 512-21.
12. Holmgren G, Costa PM, Andersson C et al. Geographical distribution of TTR met30 carriers in northern Sweden: discrepancy between carrier frequency and prevalence rate. J Med Genet 1994; 31: 351-4.
13. Andersson R. Familial amyloidosis with polyneuropathy. A clinical study based on patients living in northern Sweden. Acta Med Scand Suppl 1976; 590: 1-64.
14. Eriksson P, Karp K, Bjerle P, Olofsson BO. Disturbances of cardiac rhythm and conduction in familial amyloidosis with polyneuropathy. Br Heart J 1984; 51: 658-62.
15. de Freitas AF. The heart in Portuguese amyloidosis. Postgrad Med J 1986; 62: 601-5.
16. Eriksson P, Backman C, Eriksson A, Eriksson S, Karp K, Olofsson BO. Differentiation of cardiac amyloidosis and hypertrophic cardiomyopathy. A comparison of familial amyloidosis with polyneuropathy and hypertrophic cardiomyopathy by electrocardiography and echocardiography. Acta Med Scand 1987; 221: 39-46.
17. 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: 229-39.
18. Kongo M, Ikeda S. Echocardiographic assessment of the evolution of amyloid heart disease: a study with familial amyloid polyneuropathy. Circulation 1986; 73: 249-56.
19. Richardson P, McKenna W, Bristow M et al. Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the definition and classification of cardiomyopathies. Circulation 1996; 93: 841-2.
20. Morner S, Richard P, Kazzam E et al. Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden. J Mol Cell Cardiol 2003; 35: 841-9.
21. Sahn DJ, DeMaria A, Kisslo J, Weyman A. Recommendations regarding quantitation in M-mode echocardiography: results of a survey of echocardiographic measurements. Circulation 1978; 58: 1072-83.
22. Xiao W, Oefner PJ. Denaturing high-performance liquid chromatography: a review. Hum Mutat 2001; 17: 439-74.
23. Nichols WC, Benson MD. Hereditary amyloidosis: detection of variant prealbumin genes by restriction enzyme analysis of amplified genomic DNA sequences. Clin Genet 1990; 37: 44-53.
24. Jacobson DR, Alves IL, Saraiva MJ, Thibodeau SN, Buxbaum JN. Transthyretin Ser 6 gene frequency in individuals without amyloidosis. Hum Genet 1995; 95: 308-12.
25. Plante-Bordeneuve V, LaIu T, Misrahi M et al. Genotypicphenotypic variations in a series of 65 patients with familial amyloid polyneuropathy. Neurology 1998; 51: 708-14.
26. O'Hara CJ, Falk RH. The diagnosis and typing of cardiac amyloidosis. Amyloid 2003; 10: 127-9.