메뉴 건너뛰기




Volumn 16, Issue 10, 2008, Pages 1201-1207

Uptake of genetic counselling and predictive DNA testing in hypertrophic cardiomyopathy

Author keywords

[No Author keywords available]

Indexed keywords

MYOSIN BINDING PROTEIN C;

EID: 53249093720     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2008.92     Document Type: Article
Times cited : (88)

References (37)
  • 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
  • 2
    • 33745444609 scopus 로고    scopus 로고
    • Single-gene mutations and increased left ventricular wall thickness in the community: The Framingham Heart Study
    • Morita H, Larson MG, Barr SC et al: Single-gene mutations and increased left ventricular wall thickness in the community: The Framingham Heart Study. Circulation 2006; 113: 2697-2705.
    • (2006) Circulation , vol.11 , Issue.3 , pp. 2697-2705
    • Morita, H.1    Larson, M.G.2    Barr, S.C.3
  • 3
    • 9144224799 scopus 로고    scopus 로고
    • Prevalence of idiopathic hypertrophic cardiomyopathy in China: A population-based echocardiographic analysis of 8080 adults
    • Zou Y, Song L,Wang Z et al: Prevalence of idiopathic hypertrophic cardiomyopathy in China: A population-based echocardiographic analysis of 8080 adults. Am J Med 2004; 116: 14-18.
    • (2004) Am J Med , vol.116 , pp. 14-18
    • Zou, Y.1    Song, L.2    Wang, Z.3
  • 4
    • 0037070514 scopus 로고    scopus 로고
    • Hypertrophic Aardiomyopathy: A systematic review
    • Maron BJ: Hypertrophic Aardiomyopathy: a systematic review. JAMA 2002; 287: 1308-1320.
    • (2002) JAMA , vol.287 , pp. 1308-1320
    • Maron, B.J.1
  • 5
    • 0028824221 scopus 로고
    • Natural history of hypertrophic cardiomyopathy. A population-based study, 1976 through 1990
    • Cannan CR, Reeder GS, Bailey KR, Melton III LJ, Gersh BJ: Natural history of hypertrophic cardiomyopathy. A population-based study, 1976 through 1990. Circulation 1995; 92: 2488-2495.
    • (1995) Circulation , vol.92 , pp. 2488-2495
    • Cannan, C.R.1    Reeder, G.S.2    Bailey, K.R.3    Melton III, L.J.4    Gersh, B.J.5
  • 6
    • 0034702926 scopus 로고    scopus 로고
    • Epidemiology of hypertrophic cardiomyopathy-related death: Revisited in a large non-referral-based patient population
    • Maron BJ, Olivotto I, Spirito P et al: Epidemiology of hypertrophic cardiomyopathy-related death: Revisited in a large non-referral-based patient population. Circulation 2000; 102 858-864.
    • (2000) Circulation , vol.102 , pp. 858-864
    • Maron, B.J.1    Olivotto, I.2    Spirito, P.3
  • 7
    • 0030695327 scopus 로고    scopus 로고
    • Out-of-hospital cardiac arrest in the 1990's: A population-based study in the Maastricht area on incidence, characteristics and survival
    • de Vreede-Swagemakers JJ, Gorgels AP, Dubois-Arbouw WI et al: Out-of-hospital cardiac arrest in the 1990's: A population-based study in the Maastricht area on incidence, characteristics and survival. J Am Coll Cardiol 1997; 30: 1500-1505.
    • (1997) J Am Coll Cardiol , vol.30 , pp. 1500-1505
    • de Vreede-Swagemakers, J.J.1    Gorgels, A.P.2    Dubois-Arbouw, W.I.3
  • 8
    • 33748463805 scopus 로고    scopus 로고
    • A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy
    • Girolami F, Olivotto I, Passerini I et al: A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy. J Cardiovasc Med (Hagerstown) 2006; 7: 601-607.
    • (2006) J Cardiovasc Med (Hagerstown) , vol.7 , pp. 601-607
    • Girolami, F.1    Olivotto, I.2    Passerini, I.3
  • 9
    • 0037630018 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy: Distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy
    • Richard P, Charron P, Carrier L et al: Hypertrophic cardiomyopathy: Distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation 2003; 107: 2227-2232.
    • (2003) Circulation , vol.107 , pp. 2227-2232
    • Richard, P.1    Charron, P.2    Carrier, L.3
  • 10
    • 0142104868 scopus 로고    scopus 로고
    • The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands
    • Alders M, Jongbloed R, Deelen W et al: The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands. Eur Heart J 2003; 24: 1848-1853.
    • (2003) Eur Heart J , vol.24 , pp. 1848-1853
    • Alders, M.1    Jongbloed, R.2    Deelen, W.3
  • 11
    • 0033667442 scopus 로고    scopus 로고
    • Sudden death in hypertrophic cardiomyopathy: Identification of high risk patients
    • Elliott PM, Poloniecki J, Dickie S et al: Sudden death in hypertrophic cardiomyopathy: Identification of high risk patients. J Am Coll Cardiol 2000; 36: 2212-2218.
    • (2000) J Am Coll Cardiol , vol.36 , pp. 2212-2218
    • Elliott, P.M.1    Poloniecki, J.2    Dickie, S.3
  • 12
    • 33845661602 scopus 로고    scopus 로고
    • Left ventricular outflow tract obstruction and sudden death risk in patients with hypertrophic cardiomyopathy
    • Elliott PM, Gimeno JR, Tome MT et al: Left ventricular outflow tract obstruction and sudden death risk in patients with hypertrophic cardiomyopathy. Eur Heart J 2006; 27: 1933-1941.
    • (2006) Eur Heart J , vol.27 , pp. 1933-1941
    • Elliott, P.M.1    Gimeno, J.R.2    Tome, M.T.3
  • 13
    • 0037454158 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy in a large community-based population: Clinical outcome and identification of risk factors for sudden cardiac death and clinical deterioration
    • Kofflard MJ, Ten Cate FJ, van der Lee C, van Domburg RT: Hypertrophic cardiomyopathy in a large community-based population: Clinical outcome and identification of risk factors for sudden cardiac death and clinical deterioration. J Am Coll Cardiol 2003; 41: 987-993.
    • (2003) J Am Coll Cardiol , vol.41 , pp. 987-993
    • Kofflard, M.J.1    Ten Cate, F.J.2    van der Lee, C.3    van Domburg, R.T.4
  • 14
    • 0032580520 scopus 로고    scopus 로고
    • Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy
    • 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: 1248-1257.
    • (1998) N Engl J Med , vol.338 , pp. 1248-1257
    • Niimura, H.1    Bachinski, L.L.2    Sangwatanaroj, S.3
  • 15
    • 0242522154 scopus 로고    scopus 로고
    • 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
    • Maron BJ, McKenna WJ, Danielson GK et al: 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. J Am Coll Cardiol 2003; 42: 1687-1713.
    • (2003) J Am Coll Cardiol , vol.42 , pp. 1687-1713
    • Maron, B.J.1    McKenna, W.J.2    Danielson, G.K.3
  • 16
    • 0037974169 scopus 로고    scopus 로고
    • Primary prevention of sudden death as a novel treatment strategy in hypertrophic cardiomyopathy
    • Maron BJ, Estes III NA, Maron MS, Almquist AK, Link MS, Udelson JE: Primary prevention of sudden death as a novel treatment strategy in hypertrophic cardiomyopathy. Circulation 2003; 107: 2872-2875.
    • (2003) Circulation , vol.107 , pp. 2872-2875
    • Maron, B.J.1    Estes III, N.A.2    Maron, M.S.3    Almquist, A.K.4    Link, M.S.5    Udelson, J.E.6
  • 17
    • 34547188258 scopus 로고    scopus 로고
    • Implantable cardioverter-defibrillators and prevention of sudden cardiac death in hypertrophic cardiomyopathy
    • Maron BJ, Spirito P, Shen WK et al: Implantable cardioverter-defibrillators and prevention of sudden cardiac death in hypertrophic cardiomyopathy. JAMA 2007; 298: 405-412.
    • (2007) JAMA , vol.298 , pp. 405-412
    • Maron, B.J.1    Spirito, P.2    Shen, W.K.3
  • 18
    • 0037072077 scopus 로고    scopus 로고
    • ScrePning for cardiovascular risk: Public health imperative or matter for individual informed choice?
    • Marteau TM, Kinmonth AL: ScrePning for cardiovascular risk: public health imperative or matter for individual informed choice? BMJ 2002; 325: 78-80.
    • (2002) BMJ , vol.325 , pp. 78-80
    • Marteau, T.M.1    Kinmonth, A.L.2
  • 19
    • 2442671474 scopus 로고    scopus 로고
    • Family and population strategies for screening and counselling of inherited cardiac arrhythmias
    • van Langen I, Hofman N, Tan HL, Wilde AA: Family and population strategies for screening and counselling of inherited cardiac arrhythmias. Ann Med 2004; 36(Suppl 1): 116-124.
    • (2004) Ann Med , vol.36 , Issue.SUPPL. 1 , pp. 116-124
    • van Langen, I.1    Hofman, N.2    Tan, H.L.3    Wilde, A.A.4
  • 20
    • 0031991614 scopus 로고    scopus 로고
    • Professional disclosure of familial genetic information. The American Society of Human Genetics Social Issues Subcommittee on Familial Disclosure
    • ASHG statement
    • ASHG statement: Professional disclosure of familial genetic information. The American Society of Human Genetics Social Issues Subcommittee on Familial Disclosure. Am J Hum Genet 1998; 62: 474-483.
    • (1998) Am J Hum Genet , vol.62 , pp. 474-483
  • 21
    • 33750892348 scopus 로고    scopus 로고
    • GENCOR: A national registry for patients and families suffering from a familial heart disease in the Netherlands
    • HeAmans J, Christiaans I, van Tintelen J, Wilde A, Pinto Y: GENCOR: a national registry for patients and families suffering from a familial heart disease in the Netherlands. Neth Heart J 2006; 14: 274-278.
    • (2006) Neth Heart J , vol.14 , pp. 274-278
    • HeAmans, J.1    Christiaans, I.2    van Tintelen, J.3    Wilde, A.4    Pinto, Y.5
  • 22
    • 0034688210 scopus 로고    scopus 로고
    • Predictive genetic testing for hereditary non-polyposis colorectal cancer: Uptake and long-term satisfaction
    • Aktan-Collan K, Mecklin JP, Jarvinen H et al: Predictive genetic testing for hereditary non-polyposis colorectal cancer: Uptake and long-term satisfaction. Int J Cancer 2000; 89: 44-50.
    • (2000) Int J Cancer , vol.89 , pp. 44-50
    • Aktan-Collan, K.1    Mecklin, J.P.2    Jarvinen, H.3
  • 23
    • 4444316405 scopus 로고    scopus 로고
    • BRCA 1/2 predictive testing: A study of uptake in two centres
    • Brooks L, Lennard F, Shenton A et al: BRCA 1/2 predictive testing: a study of uptake in two centres. Eur J Hum Genet 2004; 12: 654-662.
    • (2004) Eur J Hum Genet , vol.12 , pp. 654-662
    • Brooks, L.1    Lennard, F.2    Shenton, A.3
  • 25
    • 0033526342 scopus 로고    scopus 로고
    • Genetic testing in families with hereditary nonpolyposis colon cancer
    • Lerman C, Hughes C, Trock BJ et al: Genetic testing in families with hereditary nonpolyposis colon cancer. JAMA 1999; 281: 1618-1622.
    • (1999) JAMA , vol.281 , pp. 1618-1622
    • Lerman, C.1    Hughes, C.2    Trock, B.J.3
  • 26
    • 33747057716 scopus 로고    scopus 로고
    • Letting the family know: Balancing ethics and effectiveness when notifying relatives about genetic testing for a familial disorder
    • Suthers GK, Armstrong J, McCormack J, Trott D: Letting the family know: balancing ethics and effectiveness when notifying relatives about genetic testing for a familial disorder. J Med Genet 2006; 43 665-670.
    • (2006) J Med Genet , vol.43 , pp. 665-670
    • Suthers, G.K.1    Armstrong, J.2    McCormack, J.3    Trott, D.4
  • 27
    • 0037429615 scopus 로고    scopus 로고
    • Genetic counseling and testing in families with hereditary nonpolyposis colorectal cancer
    • Hadley DW, Jenkins J, Dimond E et al: Genetic counseling and testing in families with hereditary nonpolyposis colorectal cancer. Arch Intern Med 2003; 163: 573-582.
    • (2003) Arch Intern Med , vol.163 , pp. 573-582
    • Hadley, D.W.1    Jenkins, J.2    Dimond, E.3
  • 28
    • 0036886866 scopus 로고    scopus 로고
    • Comparison of genetic services with and without genetic registers: Access and attitudes to genetic counselling services among relatives of genetic clinic patients
    • Kerzin-Storrar L, Wright C, Williamson PR et al: Comparison of genetic services with and without genetic registers: Access and attitudes to genetic counselling services among relatives of genetic clinic patients. J Med Genet 2002; 39: 85e.
    • (2002) J Med Genet , vol.39
    • Kerzin-Storrar, L.1    Wright, C.2    Williamson, P.R.3
  • 29
    • 18644374087 scopus 로고    scopus 로고
    • Genetic testing and genetic counselling in hypertrophic cardiomyopathy: The French experience
    • Charron P, Heron D, Gargiulo M et al: Genetic testing and genetic counselling in hypertrophic cardiomyopathy: The French experience. J Med Genet 2002; 39: 741-746.
    • (2002) J Med Genet , vol.39 , pp. 741-746
    • Charron, P.1    Heron, D.2    Gargiulo, M.3
  • 30
    • 0035744687 scopus 로고    scopus 로고
    • How disturbing is it to be approached for a genetic cascade screening programme for familial hypercholesterolaemia? Psychological impact and screenees' views
    • van Maarle MC, Stouthard ME, Marang-van de Mheen PJ, Klazinga NS, Bonsel GJ: How disturbing is it to be approached for a genetic cascade screening programme for familial hypercholesterolaemia? Psychological impact and screenees' views. Community Genet 2001; 4: 244-252.
    • (2001) Community Genet , vol.4 , pp. 244-252
    • van Maarle, M.C.1    Stouthard, M.E.2    Marang-van de Mheen, P.J.3    Klazinga, N.S.4    Bonsel, G.J.5
  • 31
    • 0036886537 scopus 로고    scopus 로고
    • Comparison of genetic services with and without genetic registers: Knowledge, adjustment, and attitudes about genetic counselling among probands referred to three genetic clinics
    • Wright C, Kerzin-Storrar L, Williamson PR et al: Comparison of genetic services with and without genetic registers: Knowledge, adjustment, and attitudes about genetic counselling among probands referred to three genetic clinics. J Med Genet 2002; 39: 84e.
    • (2002) J Med Genet , vol.39
    • Wright, C.1    Kerzin-Storrar, L.2    Williamson, P.R.3
  • 32
    • 0029270196 scopus 로고
    • Revisiting the behavioral model and access to medical care: Does it matter?
    • Andersen RM: Revisiting the behavioral model and access to medical care: does it matter? J Health Soc Behav 1995; 36: 1-10.
    • (1995) J Health Soc Behav , vol.36 , pp. 1-10
    • Andersen, R.M.1
  • 33
    • 0034648501 scopus 로고    scopus 로고
    • Psychosocial factors predicting BRCA1/BRCA2 testing decisions in members of hereditary breast and ovarian cancer families
    • Biesecker BB, Ishibe N, Hadley DW et al: Psychosocial factors predicting BRCA1/BRCA2 testing decisions in members of hereditary breast and ovarian cancer families. Am J Med Genet 2000; 93: 257-263.
    • (2000) Am J Med Genet , vol.93 , pp. 257-263
    • Biesecker, B.B.1    Ishibe, N.2    Hadley, D.W.3
  • 34
    • 18544376723 scopus 로고    scopus 로고
    • Predictive testing for BRCA1/2: Attributes, risk perception and management in a multi-centre clinical cohort
    • Foster C, Evans DG, Eeles R et al: Predictive testing for BRCA1/2: attributes, risk perception and management in a multi-centre clinical cohort. Br J Cancer 2002; 86: 1209-1216.
    • (2002) Br J Cancer , vol.86 , pp. 1209-1216
    • Foster, C.1    Evans, D.G.2    Eeles, R.3
  • 35
    • 23844467133 scopus 로고    scopus 로고
    • An exploratory comparison of genetic counselling protocols for HNPCC predictive testing
    • Brain K, Sivell S, Bennert K et al: An exploratory comparison of genetic counselling protocols for HNPCC predictive testing. Clin Genet 2005; 68: 255-261.
    • (2005) Clin Genet , vol.68 , pp. 255-261
    • Brain, K.1    Sivell, S.2    Bennert, K.3
  • 36
    • 34848813214 scopus 로고    scopus 로고
    • Process and outcome in communication of genetic information within families: A systematic review
    • Gaff CL, Clarke AJ, Atkinson P et al: Process and outcome in communication of genetic information within families: A systematic review. Eur J Hum Genet 2007; 15: 999-1011.
    • (2007) Eur J Hum Genet , vol.15 , pp. 999-1011
    • Gaff, C.L.1    Clarke, A.J.2    Atkinson, P.3
  • 37
    • 17144387029 scopus 로고    scopus 로고
    • Cascade testing in familial hypercholesterolaemia: How should family members be contacted?
    • Newson AJ, Humphries SE: Cascade testing in familial hypercholesterolaemia: How should family members be contacted? Eur J Hum Genet 2005; 13: 401-408.
    • (2005) Eur J Hum Genet , vol.13 , pp. 401-408
    • Newson, A.J.1    Humphries, S.E.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.