Research of markers for the genes of the heavy chain of cardiac β-myosin and myosin binding protein C in relatives of patients with hypertrophic cardiomyopathy;Pesquisa de marcadores para os genes da cadeia pesada da β-miosina cardíaca e da proteína C de ligação à miosina em familiares de pacientes com cardiomiopatia hipertrófica

Arquivos Brasileiros de Cardiologia

Volumn 84, Issue 6, 2005, Pages 467-472

  Tirone, Adriana Paula ^a   Arteaga, Edmundo ^a,b   Da Costa Pereira, Alexandre ^a   Krieger, José Eduardo ^a   De Cássia Buck, Paula ^a   Ianni, Barbara Maria ^a   Mady, Charles ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b NONE   (Brazil)

Author keywords

Gene of the myosin binding protein C; Genetics; Hypertrophic cardiomyopathy; Mutation; myosin

Indexed keywords

MOLECULAR MARKER; MYOSIN BINDING PROTEIN C; MYOSIN HEAVY CHAIN; MYOSIN HEAVY CHAIN BETA; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ANAMNESIS; ARTICLE; BLOOD EXAMINATION; CHILD; DISEASE CARRIER; ELECTROCARDIOGRAM; ENVIRONMENTAL FACTOR; FAMILY STUDY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MAJOR CLINICAL STUDY; MALE; MARKER GENE; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; RELATIVE;

EID: 21044438152     PISSN: 0066782X     EISSN: None     Source Type: Journal    
DOI: 10.1590/s0066-782x2005000600007     Document Type: Article

References (43)

1. Maron BJ. Hypertrophic cardiomyopathy. Lancet. 1997;350:127-33.
2. Maron BJ, Gardin JM, Flack JM, Gidding SS, Kurosaki TT, Bild DE. Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiograpic analysis of 4111 subjects in the CARDIA Study. Circulation. 1995;92:785-9.
3. McKenna W, Deanfield J, Faruqui A, England D, Oakley C, Goodwin J. Prognosis in hypertrophic cardiomyopathy: role of age and clinical, electrocardiographs and hemodynamic features. Am J Cardiol. 1981;47:532-8.
4. Spirito P, Chiarella F, Carratino L, Berisso MZ, Bellotti P, Vecchio C. Clinical course and prognosis of hypertrophic cardiomyopathy in an outpatient population. N Engl J Med. 1989;320:749-55.
5. Maron BJ, Nichols PF, 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.
6. Greaves SC, Roche AHG, Neutze JM, Whitlock RML, Veale AMO. Inheritance of hypertrophic cardiomyopathy; a cross sectional and M mode echocardiographic study of 50 families. Br Heart J. 1987;58:259-66.
7. Marian AJ, Roberts R. The molecular genetic basis for hypertrophic cardiomyopathy. J Mol Cell Cardiol. 2001;33:655-70.
8. Seidman JG, Seidman C. The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms. Cell. 2001;104:557-67.
9. Spirito P, Seidman CE, McKenna WJ, Maron BJ. The management of hypertrophic cardiomyopathy. N Engl J Med. 1997;336:775-85.
10. Maron BJ, McKenna WJ, Danielson GK, et al. (Wiriting Committee Members). American College of Cardiology/European Society of Cardiology Clinical expert Consensus Document on Hypertrophic Cardiomyopathy - a report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines. Eur Heart J. 2003;24:1965-91.
11. Elliott PM, Poloniecki J, Dickie S, et al. Sudden death in hypertrophic cardiomyopathy: identification of high risk patients. J Am Coll Cardiol. 2000;36:2212-8.
12. Marian AJ. Sudden cardiac death in patients with hypertrophic cardiomyopathy: from bench to bedside with an emphasis on genetic markers. Clin Cardiol. 1995;18:189-98.
13. Spirito P, Bellone P, Harris KM, Bernabo P, Bruzzi P, Maron BJ. Magnitude of left ventricular hypertrophy and risk of sudden death in hypertrophic cardiomyopathy. N Engl J Med. 2000;342:1778-85.
14. Watkins H, Rosenzweig A, Hwang DS, et al. Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Engl J Med. 1992;326:1108-14.
15. De Luna AB. Hipertrofia ventricular esquerda. In: De Luna AB. Fundamentos de Electrocardiografia. Barcelona; Editorial Científico Médica. 1981:95-122.
16. Bosissio IBJ. Aplicações clínicas do eletrocardiograma na criança. Rev Soc Cardiol Estadode São Paulo. 1999;9:277-85.
17. Henry WL, DeMaria AN, Gramiak R, et al. Report of the American Society of Echocardiography Committee on Nomenclature and Standards in Two-dimensional Echocardiography. Circulation. 1980;62:212-7.
18. Schiller NB, Shah PM, Crawford M, et al. American Society of Echocardiography Committee on Standards, subcommittee on quantification of two-dimensional echocardiograms. Recommendations for quantification of the left ventricle by two-dimensional echocardiography. J Am Echocardiography. 1989;2:358-67.
19. Vasan RS, Larson MG, Levy D, Evans JC, Benjamin EJ. Distribution and categorization of echocardiographic measurements in relation to reference limits. Circulation. 1997;96:1863-13.
20. Jarcho JA, McKenna W, Pare JAP, et al. Mapping a gene for familial hypertrophic cardiomyopathy to chromossome 14q1. N Engl J Med. 1989;321:1372-8.
21. Caulfield M, Lavender P, Farrall M, et al. Linkage of the angiotensinogen gene to essential hypertension. N Engl J Med. 1994;330:1629-33.
22. Jen J, Kim H, Piantadosi S, et al. Allelic loss of chromosome 18q and prognosis in colorectal cancer. N Engl J Med. 1994;331:213-21.
23. Jarcho JA, McKenna W, Pare JAP, et al. Mapping a gene for familial hypertrophic cardiomyopathy to chromossome 14q1. N Engl J Med. 1989;321:1372-8.
24. Hada Y, Sakamoto T, Amano K, et al. Prevalence of hypertrophic cardiomyopathy in a population of adult Japanese workers as detected by echocardiographic screening. Am J Cardiol. 1987;59:183-4.
25. Arteaga E. Cardiomiopatia hipertrófica: estudo da sobrevida e fatores prognósticos. São Paulo, 1998. 67p. Tese (Doutorado) - Faculdade de Medicina, Universidade de São Paulo.
26. Marian AJ, Roberts R. Recent advances in the molecular genetics of hypertrophic cardiomyopathy. Circulation. 1995;92:1336-47.
27. Anan R, Greve G, Thierfelder L, et al. Prognostic implications of novel β-cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy. J Clin Invest 1994;93:280-5.
28. Niimura H, Bachinski LL, Sangwatanaroj S, et al. Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. N Engl J Med. 1998;338:1248-57.
29. Moolman JA, Reith S, Uhl K, et al. A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance. Circulation. 2000;101:1396-1402.
30. Charron P, Dubourg O, Desnos M, et al. Clinical features and prognostic implications of familial hypertrophic cardiomyopathy related to the cardiac myosin-binding protein C gene. Circulation. 1998;97:2230-6.
31. Maron BJ, Niimura H, Casey SA, et al. Development of left ventricular hypertrophy in adults with hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations. J Am Coll Cardiol. 2001;38:315-21.
32. Erdmann J, Raible J, Maki-Abadi J, et al. Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy. J Am Coll Cardiol. 2001;38:322-30.
33. Hwang T-H, Lee W-H, Kimura A, et al. Early expression of a malignant phenotype of familial hypertrophic cardiomyopathy associated with a Gly716Arg myosin heavy chain mutation in a Korean family. Am J Cardiol, 1998;82:1509-13.
34. Dausse E, Komajda M, Fetler L, et al. Familial hypertrophic cardiomyopathy. Microsatellite haplotyping and identification of a hot spot for mutations in the β-myosin heavy chain gene. J Clin Invest. 1993;92:2807-13.
35. Nakajima-Taniguchi C, Matsui H, Nagata S, Kishimoto T, Yamauchi-Takihara K. Novel missense mutation in α-tropomyosin gene found in Japanese patients with hypertrophic cardiomyopathy. J Mol Cell Cardiol. 1995;27:2053-8.
36. Yamauchi-Takihara K, Nakajima-Taniguchi C, Matsui H, et al. Clinical implications of hypertrophic cardiomyopathy associated with mutations in the α-tropomyosin gene. Heart. 1996;76:63-5.
37. Mogensen J, Klausen IC, Pedersen AK, et al. α-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. J Clin Invest. 1999;103:R39-R43.
38. Olson TM, Michels W, Thibodeau SN, Tai Y-S, Keating MT. Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science. 1998;280:750-2.
39. Fujino N, Shimizy M, Ino H, et al. Cardiac troponin T Arg92Trp mutation and progression from hypertrophic to dilated cardiomyopathy. Clin Cardiol. 2001;24:397-402.
40. Watkins H. Sudden death in hypertrophic cardiomyopathy. N Engl J Med. 2000;342:422-4, (editorial).
41. Spirito P, Maron BJ, Bonow RO, Epstein SE. Occurrence and significance of progressive left ventricular wall thinning and relative cavity dilatation in hypertrophic cardiomyopathy. Am J Cardiol. 1987;59:123-9.
42. Lechin M, Quinones MA, Omran A, et al. Angiotensin-I converting enzyme genotypes and left ventricular hypertrophy in patients with hypertrophic cardiomyopathy. Circulation. 1995;92:1808-12.
43. Patel R, Lim D-S, Reddy D, et al. Variants of trophic factors and expression of cardiac hypertrophy in patients with hypertrophic cardiomyopathy. J Mol Cell Cardiol. 2000;32:2369-77.