Mutation spectrum in a large cohort of unrelated chinese patients with hypertrophic cardiomyopathy

American Journal of Cardiology

Volumn 112, Issue 4, 2013, Pages 585-589

  Liu, Wen ^a   Liu, Wenling ^a   Hu, Dayi ^a   Zhu, Tiangang ^a   Ma, Zhanfeng ^a   Yang, Jie ^a   Xie, Wenli ^b   Li, Cuilan ^a   Li, Lei ^a   Yang, Jingang ^c   Li, Tianchang ^c   Bian, Hong ^c   Tong, Qiguang ^c  

^a PEKING UNIVERSITY PEOPLE S HOSPITAL   (China)

^b BEIJING ELECTRIC POWER HOSPITAL   (China)

^c CAPITAL MEDICAL UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

MYOSIN BINDING PROTEIN C; MYOSIN HEAVY CHAIN BETA; TROPONIN T;

ADULT; ARTICLE; CHINESE; COHORT ANALYSIS; FAINTNESS; FAMILY HISTORY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HEART LEFT VENTRICLE HYPERTROPHY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SUDDEN CARDIAC DEATH;

ADULT; AGE OF ONSET; ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; CARDIOMYOPATHY, HYPERTROPHIC; CARRIER PROTEINS; CASE-CONTROL STUDIES; CHI-SQUARE DISTRIBUTION; CHILD; DISEASE PROGRESSION; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; EXONS; FEMALE; GENOTYPE; HUMANS; INTRONS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION; MYOSIN HEAVY CHAINS; PHENOTYPE; SARCOMERES; STATISTICS, NONPARAMETRIC; TROPONIN T;

EID: 84881128467     PISSN: 00029149     EISSN: 18791913     Source Type: Journal    
DOI: 10.1016/j.amjcard.2013.04.021     Document Type: Article

References (29)

1. P. Richardson, W. McKenna, M. Bristow, B. Maisch, B. Mautner, J. O'Connell, E. Olsen, G. Thiene, J. Goodwin, I. Gyarfas, I. Martin, and P. Nordet Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies Circulation 93 1996 841 842
2. B.J. Maron, S.E. Epstein, and W.C. Roberts Hypertrophic cardiomyopathy: a common cause of sudden death in the young competitive athlete Eur Heart J 4 Suppl F 1983 135 144
3. J.A. Towbin Molecular genetics of hypertrophic cardiomyopathy Curr Cardiol Rep 2 2000 134 140
4. A.J. Marian, and R. Roberts The molecular genetic basis for hypertrophic cardiomyopathy J Mol Cell Cardiol 33 2001 655 670
5. B.J. Maron, M.S. Maron, and C. Semsarian Genetics of hypertrophic cardiomyopathy after 20 years: clinical perspectives J Am Coll Cardiol 60 2012 705 715
6. W.J. McKenna, P. Spirito, M. Desnos, O. Dubourg, and M. Komajda Experience from clinical genetics in hypertrophic cardiomyopathy: proposal for new diagnostic criteria in adult members of affected families Heart 77 1997 130 132
7. S. Ogino, M.L. Gulley, J.T. den Dunnen, and R.B. Wilson Standard mutation nomenclature in molecular diagnostics: practical and educational challenges J Mol Diagn 9 2007 1 6
8. W.L. Xie, W.L. Liu, D.Y. Hu, W. Cui, T.G. Zhu, C.L. Li, Y.H. Sun, L. Li, T.C. Li, H. Bian, and Q.G. Tong Mutations in beta myosin heavy chain gene: two mutations in Chinese with familial hypertrophic cardiomyopathy and the correlation between the genotype and phenotype [in Chinese] Zhonghua Yi Xue Za Zhi 84 2004 1610 1613
9. G.Z. Pan, W.L. Liu, D.Y. Hu, W.L. Xie, T.G. Zhu, L. Li, C.L. Li, and H. Bian Comparative study of gene mutation between Chinese patients with familial and sporadic hypertrophic cardiomyopathy [in Chinese] Zhonghua Yi Xue Za Zhi 86 2006 2998 3001
10. P. Richard, P. Charron, L. Carrier, C. Ledeuil, T. Cheav, C. Pichereau, A. Benaiche, R. Isnard, O. Dubourg, M. Burban, J.P. Gueffet, A. Millaire, M. Desnos, K. Schwartz, B. Hainque, and M. Komajda Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy Circulation 107 2003 2227 2232
11. S.L. Van Driest, E.G. Ellsworth, S.R. Ommen, A.J. Tajik, B.J. Gersh, and M.J. Ackerman Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy Circulation 108 2003 445 451
12. S.L. Van Driest, M.A. Jaeger, S.R. Ommen, M.L. Will, B.J. Gersh, A.J. Tajik, and M.J. Ackerman Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy J Am Coll Cardiol 44 2004 602 610
13. S.L. Van Driest, S.R. Ommen, A.J. Tajik, B.J. Gersh, and M.J. Ackerman Sarcomeric genotyping in hypertrophic cardiomyopathy Mayo Clin Proc 80 2005 463 469
14. L. Song, Y. Zou, J. Wang, Z. Wang, Y. Zhen, K. Lou, Q. Zhang, X. Wang, H. Wang, J. Li, and R. Hui Mutations profile in Chinese patients with hypertrophic cardiomyopathy Clin Chim Acta 351 2005 209 216
15. S.L. Van Driest, V.C. Vasile, S.R. Ommen, M.L. Will, A.J. Tajik, B.J. Gersh, and M.J. Ackerman Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy J Am Coll Cardiol 44 2004 1903 1910
16. J.C. Moolman, V.A. Corfield, B. Posen, K. Ngumbela, C. Seidman, P.A. Brink, and H. Watkins Sudden death due to troponin T mutations J Am Coll Cardiol 29 1997 549 555
17. A.J. Marian, and R. Roberts Molecular genetic basis of hypertrophic cardiomyopathy: genetic markers for sudden cardiac death J Cardiovasc Electrophysiol 9 1998 88 99
18. M.J. Ackerman, S.L. VanDriest, S.R. Ommen, M.L. Will, R.A. Nishimura, A.J. Tajik, and B.J. Gersh 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 39 2002 2042 2048
19. R. Anan, G. Greve, L. Thierfelder, H. Watkins, W.J. McKenna, S. Solomon, C. Vecchio, H. Shono, S. Nakao, H. Tanaka, A. Mares Jr., J.A. Towbin, P. Spirito, R. Roberts, J.G. Seidman, and C.E. Seidman Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy J Clin Invest 93 1994 280 285
20. H. Watkins, A. Rosenzweig, D.S. Hwang, T. Levi, W. McKenna, C.E. Seidman, and J.G. Seidman Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy N Engl J Med 326 1992 1108 1114
21. T.H. Hwang, W.H. Lee, A. Kimura, M. Satoh, T. Nakamura, M.K. Kim, S.K. Choi, and J.E. Park 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 82 1998 1509 1513
22. I. Olivotto, F. Girolami, R. Sciagra, M.J. Ackerman, B. Sotgia, J.M. Bos, S. Nistri, A. Sgalambro, C. Grifoni, F. Torricelli, P.G. Camici, and F. Cecchi Microvascular function is selectively impaired in patients with hypertrophic cardiomyopathy and sarcomere myofilament gene mutations J Am Coll Cardiol 58 2011 839 848
23. H. Niimura, L.L. Bachinski, S. Sangwatanaroj, H. Watkins, A.E. Chudley, W. McKenna, A. Kristinsson, R. Roberts, M. Sole, B.J. Maron, J.G. Seidman, and C.E. Seidman Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy N Engl J Med 338 1998 1248 1257
24. M. Garcia-Castro, E. Coto, J.R. Reguero, J.R. Berrazueta, V. Alvarez, B. Alonso, R. Sainz, M. Martin, and C. Moris [Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy] Rev Esp Cardiol 62 2009 48 56
25. F. Girolami, C.Y. Ho, C. Semsarian, M. Baldi, M.L. Will, K. Baldini, F. Torricelli, L. Yeates, F. Cecchi, M.J. Ackerman, and I. Olivotto Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations J Am Coll Cardiol 55 2010 1444 1453
26. J. Ingles, A. Doolan, C. Chiu, J. Seidman, C. Seidman, and C. Semsarian Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling J Med Genet 42 2005 e59
27. M. Kelly, and C. Semsarian Multiple mutations in genetic cardiovascular disease: a marker of disease severity Circ Cardiovasc Genet 2 2009 182 190
28. B.J. Maron, M.S. Maron, and C. Semsarian Double or compound sarcomere mutations in hypertrophic cardiomyopathy: a potential link to sudden death in the absence of conventional risk factors Heart Rhythm 9 2012 57 63
29. S.X. Liu, S.J. Hu, J. Sun, J. Wang, X.T. Wang, Y. Jiang, and J. Cai Characteristics of the beta myosin heavy chain gene Ala26Val mutation in a Chinese family with hypertrophic cardiomyopathy Eur J Intern Med 16 2005 328 333