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Volumn 6, Issue 1, 2013, Pages 19-26

Toronto hypertrophic cardiomyopathy genotype score for prediction of a positive genotype in hypertrophic cardiomyopathy

Author keywords

Genotype; Hypertrophic cardiomyopathy; Sarcomere; Score

Indexed keywords

ADULT; ECHOCARDIOGRAPHY; FAMILY HISTORY; FEMALE; GENETIC SCREENING; GENOTYPE; HUMAN; HYPERTENSION; HYPERTROPHIC CARDIOMYOPATHY; MAJOR CLINICAL STUDY; MALE; PREDICTION; PRIORITY JOURNAL; REVIEW;

EID: 84878065186     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.112.963363     Document Type: Review
Times cited : (94)

References (29)
  • 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
    • 83555176173 scopus 로고    scopus 로고
    • 2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: A report of the American College of Cardiology Foundation/American Heart Association Task Force on practice guidelines
    • American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines; American Association for Thoracic Surgery; American Society of Echocardiography; American Society of Nuclear Cardiology; Heart Failure Society of America; Heart Rhythm Society; Society for Cardiovascular Angiography and Interventions; Society of Thoracic Surgeons
    • Gersh BJ, Maron BJ, Bonow RO, Dearani JA, Fifer MA, Link MS, et al American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines; American Association for Thoracic Surgery; American Society of Echocardiography; American Society of Nuclear Cardiology; Heart Failure Society of America; Heart Rhythm Society; Society for Cardiovascular Angiography and Interventions; Society of Thoracic Surgeons. 2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: a report of the American College of Cardiology Foundation/American Heart Association Task Force on practice guidelines. Circulation. 2011;124:e783-e831.
    • (2011) Circulation , vol.124
    • Gersh, B.J.1    Maron, B.J.2    Bonow, R.O.3    Dearani, J.A.4    Fifer, M.A.5    Link, M.S.6
  • 3
    • 37549040201 scopus 로고    scopus 로고
    • Genetic basis of hypertrophic cardiomyopathy: From bench to the clinics
    • Alcalai R, Seidman JG, Seidman CE. Genetic basis of hypertrophic cardiomyopathy: from bench to the clinics. J Cardiovasc Electrophysiol. 2008;19:104-110.
    • (2008) J Cardiovasc Electrophysiol , vol.19 , pp. 104-110
    • Alcalai, R.1    Seidman, J.G.2    Seidman, C.E.3
  • 4
    • 40649100317 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy: The genetic determinants of clinical disease expression
    • Keren A, Syrris P, McKenna WJ. Hypertrophic cardiomyopathy: the genetic determinants of clinical disease expression. Nat Clin Pract Cardiovasc Med. 2008;5:158-168.
    • (2008) Nat Clin Pract Cardiovasc Med , vol.5 , pp. 158-168
    • Keren, A.1    Syrris, P.2    McKenna, W.J.3
  • 5
    • 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
  • 6
    • 0036796263 scopus 로고    scopus 로고
    • Phenotypic diversity in hypertrophic cardiomyopathy
    • Arad M, Seidman JG, Seidman CE. Phenotypic diversity in hypertrophic cardiomyopathy. Hum Mol Genet. 2002;11:2499-2506.
    • (2002) Hum Mol Genet , vol.11 , pp. 2499-2506
    • Arad, M.1    Seidman, J.G.2    Seidman, C.E.3
  • 7
    • 10644283181 scopus 로고    scopus 로고
    • Frequency and clinical expression of cardiac troponin i mutations in 748 consecutive families with hypertrophic cardiomyopathy
    • Mogensen J, Murphy RT, Kubo T, Bahl A, Moon JC, Klausen IC, et al. Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy. J Am Coll Cardiol. 2004;44:2315-2325.
    • (2004) J Am Coll Cardiol. , vol.44 , pp. 2315-2325
    • Mogensen, J.1    Murphy, R.T.2    Kubo, T.3    Bahl, A.4    Moon, J.C.5    Klausen, I.C.6
  • 11
    • 84860174889 scopus 로고    scopus 로고
    • A cost-effectiveness model of genetic testing for the evaluation of families with hypertrophic cardiomyopathy
    • Ingles J, McGaughran J, Scuffham PA, Atherton J, Semsarian C. A cost-effectiveness model of genetic testing for the evaluation of families with hypertrophic cardiomyopathy. Heart. 2012;98:625-630.
    • (2012) Heart , vol.98 , pp. 625-630
    • Ingles, J.1    McGaughran, J.2    Scuffham, P.A.3    Atherton, J.4    Semsarian, C.5
  • 12
  • 14
    • 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, Zachara E, Nistri S, Re F, 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    Zachara, E.4    Nistri, S.5    Re, F.6
  • 15
    • 33645655544 scopus 로고    scopus 로고
    • Echocardiography-guided genetic testing in hypertrophic cardiomyopathy: Septal morphological features predict the presence of myofilament mutations
    • Binder J, Ommen SR, Gersh BJ, Van Driest SL, Tajik AJ, Nishimura RA, et al. Echocardiography-guided genetic testing in hypertrophic cardiomyopathy: septal morphological features predict the presence of myofilament mutations. Mayo Clin Proc. 2006;81:459-467.
    • (2006) Mayo Clin Proc , vol.81 , pp. 459-467
    • Binder, J.1    Ommen, S.R.2    Gersh, B.J.3    Van Driest, S.L.4    Tajik, A.J.5    Nishimura, R.A.6
  • 16
    • 61649085881 scopus 로고    scopus 로고
    • Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives
    • Andersen PS, Havndrup O, Hougs L, Sørensen KM, Jensen M, Larsen LA, et al. Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives. Hum Mutat. 2009;30:363-370.
    • (2009) Hum Mutat , vol.30 , pp. 363-370
    • Andersen, P.S.1    Havndrup, O.2    Hougs, L.3    Sørensen, K.M.4    Jensen, M.5    Larsen, L.A.6
  • 17
    • 0022370263 scopus 로고
    • The distribution of left ventricular hypertrophy in hypertrophic cardiomyopathy: Comparison to athletes and hypertensives
    • Shapiro LM, Kleinebenne A, McKenna WJ. The distribution of left ventricular hypertrophy in hypertrophic cardiomyopathy: comparison to athletes and hypertensives. Eur Heart J. 1985;6:967-974.
    • (1985) Eur Heart J , vol.6 , pp. 967-974
    • Shapiro, L.M.1    Kleinebenne, A.2    McKenna, W.J.3
  • 18
    • 0025061037 scopus 로고
    • Morphological quantification and differentiation of left ventricular hypertrophy in hypertrophic cardiomyopathy and hypertensive heart disease. A two dimensional echocardiographic study
    • Keller H, Wanger KC, Goepfrich M, Stegaru B, Buss J, Heene DL. Morphological quantification and differentiation of left ventricular hypertrophy in hypertrophic cardiomyopathy and hypertensive heart disease. A two dimensional echocardiographic study. Eur Heart J. 1990;11:65-74.
    • (1990) Eur Heart J. , vol.11 , pp. 65-74
    • Keller, H.1    Wanger, K.C.2    Goepfrich, M.3    Stegaru, B.4    Buss, J.5    Heene, D.L.6
  • 19
    • 29244432482 scopus 로고    scopus 로고
    • Recommendations for chamber quantification: A report from the American Society of Echocardiography's Guidelines and Standards Committee and the Chamber Quantification Writing Group, developed in conjunction with the European Association of Echocardiography, a branch of the European Society of Cardiology
    • Chamber Quantification Writing Group; American Society of Echocardiography's Guidelines and Standards Committee; European Association of Echocardiography
    • Lang RM, Bierig M, Devereux RB, Flachskampf FA, Foster E, Pellikka PA, et al Chamber Quantification Writing Group; American Society of Echocardiography's Guidelines and Standards Committee; European Association of Echocardiography. Recommendations for chamber quantification: a report from the American Society of Echocardiography's Guidelines and Standards Committee and the Chamber Quantification Writing Group, developed in conjunction with the European Association of Echocardiography, a branch of the European Society of Cardiology. J Am Soc Echocardiogr. 2005;18:1440-1463.
    • (2005) J Am Soc Echocardiogr. , vol.18 , pp. 1440-1463
    • Lang, R.M.1    Bierig, M.2    Devereux, R.B.3    Flachskampf, F.A.4    Foster, E.5    Pellikka, P.A.6
  • 21
    • 2442682859 scopus 로고    scopus 로고
    • Presentation of multivariate data for clinical use: The Framingham Study risk score functions
    • Sullivan LM, Massaro JM, D'Agostino RB Sr. Presentation of multivariate data for clinical use: the Framingham Study risk score functions. Stat Med. 2004;23:1631-1660.
    • (2004) Stat Med , vol.23 , pp. 1631-1660
    • Sullivan, L.M.1    Massaro, J.M.2    D'Agostino Sr., R.B.3
  • 22
    • 0028849972 scopus 로고
    • Phenotypic spectrum and patterns of left ventricular hypertrophy in hypertrophic cardiomyopathy: Morphologic observations and significance as assessed by two-dimensional echocardiography in 600 patients
    • Klues HG, Schiffers A, Maron BJ. Phenotypic spectrum and patterns of left ventricular hypertrophy in hypertrophic cardiomyopathy: morphologic observations and significance as assessed by two-dimensional echocardiography in 600 patients. J Am Coll Cardiol. 1995;26: 1699-1708.
    • (1995) J Am Coll Cardiol. , vol.26 , pp. 1699-1708
    • Klues, H.G.1    Schiffers, A.2    Maron, B.J.3
  • 23
    • 0242660605 scopus 로고    scopus 로고
    • Comparison of prevalence of apical hypertrophic cardiomyopathy in Japan and the United States
    • Kitaoka H, Doi Y, Casey SA, Hitomi N, Furuno T, Maron BJ. Comparison of prevalence of apical hypertrophic cardiomyopathy in Japan and the United States. Am J Cardiol. 2003;92:1183-1186.
    • (2003) Am J Cardiol , vol.92 , pp. 1183-1186
    • Kitaoka, H.1    Doi, Y.2    Casey, S.A.3    Hitomi, N.4    Furuno, T.5    Maron, B.J.6
  • 25
    • 12444270692 scopus 로고    scopus 로고
    • Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy
    • Erdmann J, Daehmlow S, Wischke S, Senyuva M, Werner U, Raible J, et al. Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. Clin Genet. 2003;64:339-349.
    • (2003) Clin Genet , vol.64 , pp. 339-349
    • Erdmann, J.1    Daehmlow, S.2    Wischke, S.3    Senyuva, M.4    Werner, U.5    Raible, J.6
  • 26
    • 22844452302 scopus 로고    scopus 로고
    • Gender-related differences in the clinical presentation and outcome of hypertrophic cardiomyopathy
    • Olivotto I, Maron MS, Adabag AS, Casey SA, Vargiu D, Link MS, et al. Gender-related differences in the clinical presentation and outcome of hypertrophic cardiomyopathy. J Am Coll Cardiol. 2005;46 :480-487.
    • (2005) J Am Coll Cardiol , vol.46 , pp. 480-487
    • Olivotto, I.1    Maron, M.S.2    Adabag, A.S.3    Casey, S.A.4    Vargiu, D.5    Link, M.S.6
  • 27
    • 84877042774 scopus 로고    scopus 로고
    • Health status of cardiac genetic disease patients and their at-risk relatives
    • Accessed September 27 2012
    • Ingles J, Yeates L, Hunt L, McGaughran J, Scuffham PA, Atherton J, et al. Health status of cardiac genetic disease patients and their at-risk relatives. Int J Cardiol. 2011; http://dx.doi.org/10.1016/j.ijcard.2011.08.083. Accessed September 27, 2012.
    • (2011) Int J Cardiol.
    • Ingles, J.1    Yeates, L.2    Hunt, L.3    McGaughran, J.4    Scuffham, P.A.5    Atherton, J.6
  • 28
    • 81255167025 scopus 로고    scopus 로고
    • Long-term survival in patients with resting obstructive hypertrophic cardiomyopathy comparison of conservative versus invasive treatment
    • Ball W, Ivanov J, Rakowski H, Wigle ED, Linghorne M, Ralph-Edwards A, et al. Long-term survival in patients with resting obstructive hypertrophic cardiomyopathy comparison of conservative versus invasive treatment. J Am Coll Cardiol. 2011;58:2313-2321.
    • (2011) J Am Coll Cardiol , vol.58 , pp. 2313-2321
    • Ball, W.1    Ivanov, J.2    Rakowski, H.3    Wigle, E.D.4    Linghorne, M.5    Ralph-Edwards, A.6
  • 29
    • 78649929399 scopus 로고    scopus 로고
    • Insights into genotype-phenotype correlation in hypertrophic cardiomyopathy: Findings from 18 Spanish families with a single mutation in MYBPC3
    • Oliva-Sandoval MJ, Ruiz-Espejo F, Monserrat L, Hermida-Prieto M, Sabater M, García-Molina E, et al. Insights into genotype-phenotype correlation in hypertrophic cardiomyopathy: findings from 18 Spanish families with a single mutation in MYBPC3. Heart. 2010;96: 1980-1984.
    • (2010) Heart , vol.96 , pp. 1980-1984
    • Oliva-Sandoval, M.J.1    Ruiz-Espejo, F.2    Monserrat, L.3    Hermida-Prieto, M.4    Sabater, M.5    García-Molina, E.6


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