메뉴 건너뛰기




Volumn 40, Issue 6, 2013, Pages 3969-3976

Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy

Author keywords

Hypertrophic cardiomyopathy; Left ventricular hypertrophy; Multiple gene mutations

Indexed keywords

ADULT; ARTICLE; CHINESE; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HEART LEFT VENTRICLE HYPERTROPHY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MAJOR CLINICAL STUDY; MALE; MUTATION RATE; MYBPC3 GENE; MYH7 GENE; NUCLEOTIDE SEQUENCE; TNNI3 GENE; TNNT2 GENE;

EID: 84877734976     PISSN: 03014851     EISSN: 15734978     Source Type: Journal    
DOI: 10.1007/s11033-012-2474-2     Document Type: Article
Times cited : (57)

References (20)
  • 1
    • 0037070514 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy: A systematic review
    • 11886323 10.1001/jama.287.10.1308
    • Maron BJ (2002) Hypertrophic cardiomyopathy: a systematic review. JAMA 287:1308-1320
    • (2002) JAMA , vol.287 , pp. 1308-1320
    • Maron, B.J.1
  • 2
    • 9144224799 scopus 로고    scopus 로고
    • Prevalence of idiopathic hypertrophic cardiomyopathy in China: A population-based echocardiographic analysis of 8080 adults
    • 14706660 10.1016/j.amjmed.2003.05.009
    • Zou Y, Song L, Wang Z, Ma A, Liu T, Gu H et al (2004) Prevalence of idiopathic hypertrophic cardiomyopathy in China: a population-based echocardiographic analysis of 8080 adults. Am J Med 116:14-18
    • (2004) Am J Med , vol.116 , pp. 14-18
    • Zou, Y.1    Song, L.2    Wang, Z.3    Ma, A.4    Liu, T.5    Gu, H.6
  • 3
    • 77949718853 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy: From genetics to treatment
    • 20503496 10.1111/j.1365-2362.2010.02268.x 1:CAS:528:DC%2BC3cXlsFSrsrg%3D
    • Marian AJ (2010) Hypertrophic cardiomyopathy: from genetics to treatment. Eur J Clin Invest 40:360-369
    • (2010) Eur J Clin Invest , vol.40 , pp. 360-369
    • Marian, A.J.1
  • 4
    • 77952157390 scopus 로고    scopus 로고
    • Genetics of hypertrophic cardiomyopathy
    • 20124998 10.1097/HCO.0b013e3283375698
    • Konno T, Chang S, Seidman JG, Seidman CE (2010) Genetics of hypertrophic cardiomyopathy. Curr Opin Cardiol 25(3):205-209
    • (2010) Curr Opin Cardiol , vol.25 , Issue.3 , pp. 205-209
    • Konno, T.1    Chang, S.2    Seidman, J.G.3    Seidman, C.E.4
  • 5
    • 48749090736 scopus 로고    scopus 로고
    • The Declaration of Helsinki and public health
    • 18797627 10.2471/BLT.08.050955
    • Williams JR (2008) The Declaration of Helsinki and public health. Bull World Health Organ 86:650-651
    • (2008) Bull World Health Organ , vol.86 , pp. 650-651
    • Williams, J.R.1
  • 6
    • 0031049263 scopus 로고    scopus 로고
    • Experience from clinical genetics in hypertrophic cardiomyopathy: Proposal for new diagnostic criteria in adult members of affected families
    • 9068395 1:STN:280:DyaK2s3itFenuw%3D%3D
    • McKenna WJ, Spirito P, Desnos M, Dubourg O, Komajda M (1997) Experience from clinical genetics in hypertrophic cardiomyopathy: proposal for new diagnostic criteria in adult members of affected families. Heart 77:130-132
    • (1997) Heart , vol.77 , pp. 130-132
    • McKenna, W.J.1    Spirito, P.2    Desnos, M.3    Dubourg, O.4    Komajda, M.5
  • 7
    • 79951809636 scopus 로고    scopus 로고
    • Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa
    • 21147909 10.1136/jmg.2010.083568
    • Simpson DA, Clark GR, Alexander S, Silvestri G, Willoughby CE (2011) Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa. J Med Genet 48(3):145-151
    • (2011) J Med Genet , vol.48 , Issue.3 , pp. 145-151
    • Simpson, D.A.1    Clark, G.R.2    Alexander, S.3    Silvestri, G.4    Willoughby, C.E.5
  • 8
    • 79851484043 scopus 로고    scopus 로고
    • Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy
    • 21310275 10.1016/j.ajhg.2011.01.011 1:CAS:528:DC%2BC3MXhvFKgtLk%3D
    • Jordan DM, Kiezun A, Baxter SM, Agarwala V, Green RC, Murray MF et al (2011) Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. Am J Hum Genet 88(2):183-192
    • (2011) Am J Hum Genet , vol.88 , Issue.2 , pp. 183-192
    • Jordan, D.M.1    Kiezun, A.2    Baxter, S.M.3    Agarwala, V.4    Green, R.C.5    Murray, M.F.6
  • 9
    • 0041663609 scopus 로고    scopus 로고
    • Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy
    • 12860912 10.1161/01.CIR.0000080896.52003.DF
    • Van Driest SL, Ellsworth EG, Ommen SR, Tajik AJ, Gersh BJ, Ackerman MJ (2003) Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy. Circulation 108:445-451
    • (2003) Circulation , vol.108 , pp. 445-451
    • Van Driest, S.L.1    Ellsworth, E.G.2    Ommen, S.R.3    Tajik, A.J.4    Gersh, B.J.5    Ackerman, M.J.6
  • 10
    • 44949259297 scopus 로고    scopus 로고
    • Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy
    • 18533079 1:CAS:528:DC%2BD1cXnvVCqtrw%3D
    • Olivotto I, Girolami F, Ackerman MJ, Nistri S, Bos JM, Zachara E et al (2008) Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy. Mayo Clin Proc 83:630-638
    • (2008) Mayo Clin Proc , vol.83 , pp. 630-638
    • Olivotto, I.1    Girolami, F.2    Ackerman, M.J.3    Nistri, S.4    Bos, J.M.5    Zachara, E.6
  • 11
    • 77956941980 scopus 로고    scopus 로고
    • Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy
    • 20624503 10.1016/j.ejmg.2010.07.007
    • Millat G, Bouvagnet P, Chevalier P, Dauphin C, Jouk PS, Da Costa A et al (2010) Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy. Eur J Med Genet 53:261-267
    • (2010) Eur J Med Genet , vol.53 , pp. 261-267
    • Millat, G.1    Bouvagnet, P.2    Chevalier, P.3    Dauphin, C.4    Jouk, P.S.5    Da Costa, A.6
  • 12
    • 7044264544 scopus 로고    scopus 로고
    • Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy
    • 15519027 10.1016/j.jacc.2004.07.045
    • Van Driest SL, Vasile VC, Ommen SR, Will ML, Tajik AJ, Gersh BJ et al (2004) Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. J Am Coll Cardiol 44:1903-1910
    • (2004) J Am Coll Cardiol , vol.44 , pp. 1903-1910
    • Van Driest, S.L.1    Vasile, V.C.2    Ommen, S.R.3    Will, M.L.4    Tajik, A.J.5    Gersh, B.J.6
  • 13
    • 0037630018 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy: Distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy
    • 12707239 10.1161/01.CIR.0000066323.15244.54
    • Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C et al (2003) Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation 107:2227-2232
    • (2003) Circulation , vol.107 , pp. 2227-2232
    • Richard, P.1    Charron, P.2    Carrier, L.3    Ledeuil, C.4    Cheav, T.5    Pichereau, C.6
  • 14
    • 0033005768 scopus 로고    scopus 로고
    • Double heterozygosity for mutations in the b-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy
    • 10424815 1:CAS:528:DyaK1MXms12gurs%3D
    • Richard P, Isnard R, Carrier L, Dubourg O, Donatien Y, Mathieu B et al (1999) Double heterozygosity for mutations in the b-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy. J Med Genet 36:542-545
    • (1999) J Med Genet , vol.36 , pp. 542-545
    • Richard, P.1    Isnard, R.2    Carrier, L.3    Dubourg, O.4    Donatien, Y.5    Mathieu, B.6
  • 15
    • 33646757738 scopus 로고    scopus 로고
    • Compound and double mutations in patients with hypertrophic cardiomyopathy: Implications for genetic testing and counselling
    • 16199542 10.1136/jmg.2005.033886 1:STN:280:DC%2BD2MrisV2jtA%3D%3D
    • Ingles J, Doolan A, Chiu C, Seidman J, Seidman C, Semsarian C (2005) Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. J Med Genet 42:e59
    • (2005) J Med Genet , vol.42 , pp. 59
    • Ingles, J.1    Doolan, A.2    Chiu, C.3    Seidman, J.4    Seidman, C.5    Semsarian, C.6
  • 16
    • 77949881591 scopus 로고    scopus 로고
    • Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations
    • 20359594 10.1016/j.jacc.2009.11.062 1:CAS:528:DC%2BC3cXlvVKhsLw%3D
    • Girolami F, Ho CY, Semsarian C, Baldi M, Will ML, Baldini K et al (2010) Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations. J Am Coll Cardiol 55:1444-1453
    • (2010) J Am Coll Cardiol , vol.55 , pp. 1444-1453
    • Girolami, F.1    Ho, C.Y.2    Semsarian, C.3    Baldi, M.4    Will, M.L.5    Baldini, K.6
  • 17
    • 84863393253 scopus 로고    scopus 로고
    • Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathy
    • 22112859 10.1253/circj.CJ-11-0876 1:CAS:528:DC%2BC38XjtFajtLY%3D
    • Otsuka H, Arimura T, Abe T, Kawai H, Aizawa Y, Kubo T et al (2012) Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathy. Circ J 76(2):453-461
    • (2012) Circ J , vol.76 , Issue.2 , pp. 453-461
    • Otsuka, H.1    Arimura, T.2    Abe, T.3    Kawai, H.4    Aizawa, Y.5    Kubo, T.6
  • 18
    • 42949149810 scopus 로고    scopus 로고
    • Shared genetic causes of cardiac hypertrophy in children and adults
    • 18403758 10.1056/NEJMoa075463 1:CAS:528:DC%2BD1cXlt1Ggtrs%3D
    • Morita H, Rehm HL, Menesses A, McDonough B, Roberts AE, Kucherlapati R et al (2008) Shared genetic causes of cardiac hypertrophy in children and adults. N Engl J Med 358:1899-1908
    • (2008) N Engl J Med , vol.358 , pp. 1899-1908
    • Morita, H.1    Rehm, H.L.2    Menesses, A.3    McDonough, B.4    Roberts, A.E.5    Kucherlapati, R.6
  • 19
    • 78650688851 scopus 로고    scopus 로고
    • Mutation type is not clinically useful in predicting prognosis in hypertrophic cardiomyopathy
    • 21135372 10.1161/CIRCULATIONAHA.110.954446
    • Landstrom AP, Ackerman MJ (2010) Mutation type is not clinically useful in predicting prognosis in hypertrophic cardiomyopathy. Circulation 122:2441-2449
    • (2010) Circulation , vol.122 , pp. 2441-2449
    • Landstrom, A.P.1    Ackerman, M.J.2
  • 20
    • 41949129330 scopus 로고    scopus 로고
    • Severe heart failure and early mortality in a double-mutation mouse model of familial hypertrophic cardiomyopathy
    • 18362229 10.1161/CIRCULATIONAHA.107.755777
    • Tsoutsman T, Kelly M, Ng DC, Tan JE, Tu E, Lam L et al (2008) Severe heart failure and early mortality in a double-mutation mouse model of familial hypertrophic cardiomyopathy. Circulation 117:1820-1831
    • (2008) Circulation , vol.117 , pp. 1820-1831
    • Tsoutsman, T.1    Kelly, M.2    Ng, D.C.3    Tan, J.E.4    Tu, E.5    Lam, L.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.