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Volumn 16, Issue 9, 2014, Pages 950-957

Malignant effects of multiple rare variants in sarcomere genes on the prognosis of patients with hypertrophic cardiomyopathy

Author keywords

Hypertrophic cardiomyopathy; Multiple rare variants; Prognosis; Sarcomere gene

Indexed keywords

ADULT; ARTICLE; CARDIOVASCULAR EFFECT; CARDIOVASCULAR RISK; CAUSE OF DEATH; CONTROLLED STUDY; CORRELATIONAL STUDY; FEMALE; GENE IDENTIFICATION; GENE SEQUENCE; GENE TARGETING; GENETIC POLYMORPHISM; GENETIC RISK; GENETIC SCREENING; GENETIC VARIABILITY; HEART DEATH; HEART FAILURE; HEART VENTRICLE HYPERTROPHY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MAJOR CLINICAL STUDY; MALE; OUTCOME ASSESSMENT; PROGNOSIS; PROSPECTIVE STUDY; RISK ASSESSMENT; RISK FACTOR; SARCOMERE; SUDDEN CARDIAC DEATH; CHINA; EPIDEMIOLOGY; FOLLOW UP; GENE FREQUENCY; GENETICS; GENOTYPE; METABOLISM; MIDDLE AGED; MORTALITY; MUTATION; SURVIVAL RATE; TIME; TRENDS;

EID: 84908238737     PISSN: 13889842     EISSN: 18790844     Source Type: Journal    
DOI: 10.1002/ejhf.144     Document Type: Article
Times cited : (67)

References (39)
  • 1
    • 0029083650 scopus 로고
    • 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
    • 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;92:785-789.
    • (1995) Circulation , vol.92 , pp. 785-789
    • Maron, B.J.1    Gardin, J.M.2    Flack, J.M.3    Gidding, S.S.4    Kurosaki, T.T.5    Bild, D.E.6
  • 3
    • 84872551624 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy
    • Maron BJ, Maron MS. Hypertrophic cardiomyopathy. Lancet 2013;381:242-255.
    • (2013) Lancet , vol.381 , pp. 242-255
    • Maron, B.J.1    Maron, M.S.2
  • 4
    • 0242321143 scopus 로고    scopus 로고
    • 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
    • American College of Cardiology/European Society of Cardiology Clinical Expert Consensus Document on Hypertrophic Cardiomyopathy
    • Maron BJ, McKenna WJ, Danielson GK, Kappenberger LJ, Kuhn HJ, Seidman CE, Shah PM, Spencer WH 3rd, Spirito P, Ten Cate FJ, Wigle ED. 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;24:1965-1991.
    • (2003) Eur Heart J , vol.24 , pp. 1965-1991
    • Maron, B.J.1    McKenna, W.J.2    Danielson, G.K.3    Kappenberger, L.J.4    Kuhn, H.J.5    Seidman, C.E.6    Shah, P.M.7    Spencer, W.H.8    Spirito, P.9    Ten, C.F.J.10    Wigle, E.D.11
  • 9
  • 10
    • 0037357857 scopus 로고    scopus 로고
    • Utility of genetic screening in hypertrophic cardiomyopathy: Prevalence and significance of novel and double (homozygous and heterozygous) beta-myosin mutations
    • Mohiddin SA, Begley DA, McLam E, Cardoso JP, Winkler JB, Sellers JR, Fananapazir L. Utility of genetic screening in hypertrophic cardiomyopathy: prevalence and significance of novel and double (homozygous and heterozygous) beta-myosin mutations. Genet Test 2003;7:21-27.
    • (2003) Genet Test , vol.7 , pp. 21-27
    • Mohiddin, S.A.1    Begley, D.A.2    McLam, E.3    Cardoso, J.P.4    Winkler, J.B.5    Sellers, J.R.6    Fananapazir, L.7
  • 13
    • 33646757738 scopus 로고    scopus 로고
    • Compound and double mutations in patients with hypertrophic cardiomyopathy: Implications for genetic testing and counselling
    • Ingles J, Doolan A, Chiu C, Seidman J, Seidman C, Semsarian C. Compound and double mutations in patients with hypertrophic cardiomyopathy: Implications for genetic testing and counselling. J Med Genet 2005;42:e59.
    • (2005) J Med Genet , vol.42 , pp. e59
    • Ingles, J.1    Doolan, A.2    Chiu, C.3    Seidman, J.4    Seidman, C.5    Semsarian, C.6
  • 17
    • 84555222948 scopus 로고    scopus 로고
    • Double or compound sarcomere mutations in hypertrophic cardiomyopathy: A potential link to sudden death in the absence of conventional risk factors
    • Maron BJ, Maron MS, Semsarian C. Double or compound sarcomere mutations in hypertrophic cardiomyopathy: A potential link to sudden death in the absence of conventional risk factors. Heart Rhythm 2012;9:57-63.
    • (2012) Heart Rhythm , vol.9 , pp. 57-63
    • Maron, B.J.1    Maron, M.S.2    Semsarian, C.3
  • 24
    • 68149165614 scopus 로고    scopus 로고
    • Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
    • Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009; 4:1073-1081.
    • (2009) Nat Protoc , vol.4 , pp. 1073-1081
    • Kumar, P.1    Henikoff, S.2    Ng, P.C.3
  • 27
    • 78650693367 scopus 로고    scopus 로고
    • Genetics and clinical destiny: Improving care in hypertrophic cardiomyopathy
    • Ho CY. Genetics and clinical destiny: Improving care in hypertrophic cardiomyopathy. Circulation 2010;122:2430-2440.
    • (2010) Circulation , vol.122 , pp. 2430-2440
    • Ho, C.Y.1
  • 28
    • 78650688851 scopus 로고    scopus 로고
    • Mutation type is not clinically useful in predicting prognosis in hypertrophic cardiomyopathy
    • Landstrom AP, Ackerman MJ. Mutation type is not clinically useful in predicting prognosis in hypertrophic cardiomyopathy. Circulation 2010;122:2441-2449.
    • (2010) Circulation , vol.122 , pp. 2441-2449
    • Landstrom, A.P.1    Ackerman, M.J.2
  • 32
    • 84875274402 scopus 로고    scopus 로고
    • A validation study of the 2003 American college of cardiology/European society of cardiology and 2011 American college of cardiology foundation/American heart association risk stratification and treatment algorithms for sudden cardiac death in patients with hypertrophic Cardiomyopathy
    • O'Mahony C, Tome-Esteban M, Lambiase PD, Pantazis A, Dickie S, McKenna WJ, Elliott PM. A validation study of the 2003 American College of Cardiology/European Society of Cardiology and 2011 American College of Cardiology Foundation/American Heart Association risk stratification and treatment algorithms for sudden cardiac death in patients with hypertrophic cardiomyopathy. Heart 2013;99:534-541.
    • (2013) Heart , vol.99 , pp. 534-541
    • O'mahony, C.1    Tome-Esteban, M.2    Lambiase, P.D.3    Pantazis, A.4    Dickie, S.5    McKenna, W.J.6    Elliott, P.M.7
  • 33
    • 77956792326 scopus 로고    scopus 로고
    • Next generation sequencing for clinical diagnostics-principles and application to targeted resequencing for hypertrophic cardiomyopathy: A paper from the 2009 William Beaumont hospital symposium on molecular pathology
    • Voelkerding KV, Dames S, Durtschi JD. Next generation sequencing for clinical diagnostics-principles and application to targeted resequencing for hypertrophic cardiomyopathy: A paper from the 2009 William Beaumont Hospital Symposium on Molecular Pathology. J Mol Diagn 2010;12:539-551.
    • (2010) J Mol Diagn , vol.12 , pp. 539-551
    • Voelkerding, K.V.1    Dames, S.2    Durtschi, J.D.3
  • 38
    • 84865127014 scopus 로고    scopus 로고
    • Genetics of hypertrophic cardiomyopathy after 20 years: Clinical perspectives
    • Maron BJ, Maron MS, Semsarian C. Genetics of hypertrophic cardiomyopathy after 20 years: clinical perspectives. J Am Coll Cardiol 2012;60:705-715.
    • (2012) J Am Coll Cardiol , vol.60 , pp. 705-715
    • Maron, B.J.1    Maron, M.S.2    Semsarian, C.3
  • 39
    • 84856258171 scopus 로고    scopus 로고
    • Mechanisms of disease: Hypertrophic cardiomyopathy
    • Frey N, Luedde M, Katus HA. Mechanisms of disease: hypertrophic cardiomyopathy. Nat Rev Cardiol 2012;9:91-100.
    • (2012) Nat Rev Cardiol , vol.9 , pp. 91-100
    • Frey, N.1    Luedde, M.2    Katus, H.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.