Phát hiện đột biến gen tổng hợp chuỗi nặng Beta - Myosin (Myh7) trong bệnh cơ tim phì đại.
Tóm tắt
Phát hiện đột biến gen tổng hợp chuỗi nặng Beta - Myosin (Myh7) trong bệnh cơ tim phì đại.Tài liệu tham khảo
1. Ackerman MJ, VanDriest SL, Ommen SR, Will ML, Nishimura RA, Tajik AJ, Gersh BJ. Prevalence and age- dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy: a comprehensive outpatient perspective. J Am Coll Cardiol. 2002 Jun 19;39(12):2042-8.
2. Braunwald E, Lambrew C, Rockoff D, et al. Idiopathic hypertrophic subaortic stenosis: I. A description of the disease based upon an analysis of 64 patients. Circulation 1964;30 Suppl IV:3–217.
3. E. G. Torrecilla, M. A. Garci´a Ferna´ndez, H. Bueno, M. Moreno and J. Pulmonary venous flow in hypertrophic ardiomyopathy as assessed by the transoesophageal approach. European Heart Journal (1999) 20, 293–302.
4. Eliecer Coto1,4,5, Julián R. Reguero, Resequencing the whole MYH7 gene (including the intronic, promoter, and 3´ UTR sequences) in hypertrophic cardiomyopathy. J Mol Diagn. 2012 Sep;14(5):518-24.
5. Garcia-Castro M, Coto E, Reguero JR, et al. Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy. Rev Esp Cardiol 2009 Jan;62(1):48-56.
6. Garcia-Castro M, Reguero JR, Batalla A, et al. Hypertrophic cardiomyopathy: Low frequency of mutations in the β-myosin heavy chain (MYH7) and cardiac troponin t (TNNT2) genes among spanish patients. Clin Chemistry 2003; 49(8): 1279-1285.
7. Geisterfer-Lowrance, A. A. T., Kass, S., Tanigawa, G., Vosberg, H.-P., McKenna, W., Seidman, C. E., Seidman,
J. G. A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. Cell 1990; 62: 999-1006.
8. Hougs L HO, Bundgaard H, Kober L, et al. One third of Danish hypertrophic cardiomyopathy patients with MYH7 mutations have mutations [corrected] in MYH7 rod region. Eur J Hum Genet 2005; 13(5):161-165.
9. Kaski JP, Syrris P, Esteban MT, Jenkins S, Pantazis A, Deanfield JE, McKenna WJ, Elliott PM. Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. Circ Cardiovasc Genet. 2009 Oct;2(5):436-441.
10. Klues HG, Leuner C, Kuhn H. Left ventricular outflow tract obstruction in patients with hypertrophic cardiomyopathy: increase in gradient after exercise. J Am Coll Cardiol 1992;19:527–33.
11. Ko, Y.-L., Chen, J.-J., Tang, T.-K., Cheng, J.-J., Lin, S.-Y., Liou, Y.-C., Kuan, P., Wu, C.-W., Lien, W.-P., Liew, C.-
C. Malignant familial hypertrophic cardiomyopathy in a family with a 453arg-to-cys mutation in the beta-myosin heavy chain gene: coexistence of sudden death and end-stage heart failure. Hum. Genet. 1996; 97: 585-590.
12. Liu W, Xie W, Hu D, et al. [Analysis of MYH7, MYBPC3 and TNNT2 gene mutations in 10 Chinese pedigrees with familial hypertrophic cardiomyopathy and the correlation between genotype and phenotype] Chinese [Abstract]. Zhonghua Xin Xue Guan Bing Za Zhi 2006; 34(3): 202.
13. Luis C. Afonso, Juan Bernal, Jeroen J. Bax, and Theodore P. Abraham. Echocardiography in Hypertrophic Cardiomyopathy: The Role of Conventional and Emerging Technologies J. Am. Coll. Cardiol. Img. 2008;1;787-800.
14. Maron BJ, Bonow RO, Cannon RO III, Leon MB, Epstein SE. Hypertrophic cardiomyopathy. Interrelations of clinical manifestations, pathophysiology, and therapy. N Engl J Med 1987;316:844–52.
15. Maron BJ, Epstein SE, Roberts WC. Hypertrophic cardiomyopathy and transmural myocardial infarction without significant atherosclerosis of the extramural coronary arteries. Am J Cardiol. 1979 Jun;43(6):1086-1102.
16. 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. Circulation. 1995 Aug; 15;92(4):785-9.
17. Maron BJ, Savage DD, Wolfson JK, Epstein SE. Prognostic significance of 24 hour ambulatory electrocardiographic monitoring in patients with hypertrophic cardiomyopathy: a prospective study. Am J Cardiol. 1981 Aug;48(2):252-7.
18. Maron BJ. Hypertrophic cardiomyopathy: a systematic review. JAMA 2002;287:1308–20.
19. McKenna WJ, England D, Doi YL, Deanfield JE, Oakley C, Goodwin JF. Arrhythmia in hypertrophic cardiomyopathy. I: Influence on prognosis. Br Heart J. 1981 Aug;46(2):168-72.
20. Montazeri M, Houshmand MHM, Ghani Kakhki M, et al. Investigations of hot spot regions in MYH7 genes in Iranian hypertrophic cardiomyopathy patients. Proceeding of the 4PthP national biotechnology congress. Kerman: Kerman University of Medical Sciences; 2005.
21. Morita H, Rehm HL, Menesses A, McDonough B, Roberts AE, Kucherlapati R, Towbin JA, Seidman JG, Seidman CE. Shared genetic causes of cardiac hypertrophy in children and adults. N Engl J Med. 2008 May 1;358(18):1899-908.
22. Pare, J. A. P., Fraser, R. G., Pirozynski, W. J., Shanks, J. A., Stubington, D. Hereditary cardiovascular dysplasia: a form of familial cardiomyopathy. Am. J. Med. 1961; 31: 37-62.
23. Perryman, M. B., Yu, Q., Marian, A. J., Mares, A., Jr., Czernuszewicz, G., Ifegwu, J., Hill, R., Roberts, R. Expression of a missense mutation in the messenger RNA for beta-myosin heavy chain in myocardial tissue in hypertrophic cardiomyopathy. J. Clin. Invest. 1992; 90: 271-277.
24. Radovan HP, Št_pánka H, Martin B. Familial hypertrophic cardiomyopathy owing to double heterozygosity for a 403Arg_Trp mutation in exon 13 of the MYH7 gene and a novel mutation, 453Arg_His, in exon 14 of the MYH7 gene: A case report. Exp Clin Cardiol 2001; 6(4): 223-227.
25. Reena Tanjore, Advithi RangaRaju and Pratibha Nallari Genetic Variations of β-MYH7 in hypertrophic cardiomyopathy and dilated cardiomyopathy. Indian J Hum Genet. 2010 May-Aug; 16(2): 67–71.
26. Sherif F. Nagueh, Nasser M. Lakkis, Katherine J. Middleton, William H. Spencer III, William A. Zoghbi and Miguel
A. Doppler Estimation of Left Ventricular Filling Pressures in Patients With Hypertrophic Cardiomyopathy Circulation
, 99:254-261.
27. Spindler, M., Saupe, K. W., Christe, M. E., Sweeney, H. L., Seidman, C. E., Seidman, J. G., Ingwall, J. S. Diastolic dysfunction and altered energetics in the alpha-MHC-403/+ mouse model of familial hypertrophic cardiomyopathy. J. Clin. Invest. 1998; 101: 1775-1783.
28. Stewart S, Schreiner B. Coexisting idiopathic hypertrophic subaortic stenosis and coronary artery disease. Clinical implication and operative management. J Thorac Cardiovasc Surg. 1981 Aug;82(2):278-80.
29. Van Driest SL, Ackerman MJ, Ommen SR, Shakur R, Will ML, Nishimura RA, Tajik AJ, Gersh BJ. Prevalence and severity of “benign” mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathy. Circulation. 2002 Dec 10;106(24):3085-90.
30. Wang H et al., “Genetic heterogeneity of myosin heavy chain 7 gene G823E mutation in familial hypertrophic cardiomyopathy in Chinese”, PubMed, 2008; 2;88(44):3120-2.
31. Watkins H, Rosenzweig A, Hwang DS, Levi T, McKenna W, Seidman CE, Seidman JG. Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Engl J Med. 1992 Apr 23;326(17):1108-14.
