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Volumn 10, Issue 1, 2013, Pages 63-72

Genetic testing in the contemporary diagnosis of cardiomyopathy

Author keywords

Arrhythmogenic right ventricular cardiomyopathy; Cardiomyopathy; Dilated cardiomyopathy; Exome; Genetic; Genetic counseling; Genetic testing; Genome; Hypertrophic cardiomyopathy; Left ventricular noncompaction; Mutation; Restrictive cardiomyopathy; Variant

Indexed keywords

MYOSIN BINDING PROTEIN C; MYOSIN HEAVY CHAIN BETA;

EID: 84873724796     PISSN: 15469530     EISSN: 15469549     Source Type: Journal    
DOI: 10.1007/s11897-012-0124-6     Document Type: Article
Times cited : (16)

References (66)
  • 1
    • 60949103027 scopus 로고    scopus 로고
    • Genetic evaluation of cardiomyopathy - A Heart Failure Society of America practice guideline
    • 19254666 10.1016/j.cardfail.2009.01.006 This oft-cited practice guideline is the mainstay of genetic testing and clinical screening recommendations for the inherited cardiomyopathies
    • •• Hershberger RE, et al. Genetic evaluation of cardiomyopathy - a Heart Failure Society of America practice guideline. J Card Fail. 2009;15(2):83-97. This oft-cited practice guideline is the mainstay of genetic testing and clinical screening recommendations for the inherited cardiomyopathies.
    • (2009) J Card Fail , vol.15 , Issue.2 , pp. 83-97
    • Hershberger, R.E.1
  • 2
    • 78649373427 scopus 로고    scopus 로고
    • Genetic counselling and testing in cardiomyopathies: A position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases
    • 20823110 10.1093/eurheartj/ehq271
    • Charron P, et al. Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2010;31(22):2715-26.
    • (2010) Eur Heart J , vol.31 , Issue.22 , pp. 2715-2726
    • Charron, P.1
  • 3
    • 79960867817 scopus 로고    scopus 로고
    • HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA)
    • 10.1016/j.hrthm.2011.05.020 This is another important expert statement regarding genetic testing for inherited cardiomyopathies
    • •• Ackerman MJ, et al. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Hear Rhythm. 2011;8(8):1308-39. This is another important expert statement regarding genetic testing for inherited cardiomyopathies.
    • (2011) Hear Rhythm , vol.8 , Issue.8 , pp. 1308-1339
    • Ackerman, M.J.1
  • 4
    • 84865127014 scopus 로고    scopus 로고
    • Genetics of hypertrophic cardiomyopathy after 20 years: Clinical perspectives
    • 22796258 10.1016/j.jacc.2012.02.068
    • Maron BJ, Maron MS, Semsarian C. Genetics of hypertrophic cardiomyopathy after 20 years: clinical perspectives. J Am Coll Cardiol. 2012;60(8):705-15.
    • (2012) J Am Coll Cardiol , vol.60 , Issue.8 , pp. 705-715
    • Maron, B.J.1    Maron, M.S.2    Semsarian, C.3
  • 5
    • 34250769985 scopus 로고    scopus 로고
    • Phenotypic plasticity of sarcomeric protein mutations
    • 17599606 10.1016/j.jacc.2007.04.016 1:CAS:528:DC%2BD2sXntFyhs7w%3D
    • Marian AJ. Phenotypic plasticity of sarcomeric protein mutations. J Am Coll Cardiol. 2007;49(25):2427-9.
    • (2007) J Am Coll Cardiol , vol.49 , Issue.25 , pp. 2427-2429
    • Marian, A.J.1
  • 6
    • 70449578711 scopus 로고    scopus 로고
    • The genetics of cardiomyopathy: Genotyping and genetic counseling
    • 19930981 10.1007/s11936-009-0046-0
    • Fowler SJ, Napolitano C, Priori SG. The genetics of cardiomyopathy: genotyping and genetic counseling. Curr Treat Options Cardiovasc Med. 2009;11(6):433-46.
    • (2009) Curr Treat Options Cardiovasc Med , vol.11 , Issue.6 , pp. 433-446
    • Fowler, S.J.1    Napolitano, C.2    Priori, S.G.3
  • 7
    • 44649118695 scopus 로고    scopus 로고
    • Mutations in sarcomere protein genes in left ventricular noncompaction
    • 18506004 10.1161/CIRCULATIONAHA.107.746164 1:CAS:528:DC%2BD1cXmsVOjsLw%3D
    • Klaassen S, et al. Mutations in sarcomere protein genes in left ventricular noncompaction. Circulation. 2008;117(22):2893-901.
    • (2008) Circulation , vol.117 , Issue.22 , pp. 2893-2901
    • Klaassen, S.1
  • 8
    • 34250779383 scopus 로고    scopus 로고
    • Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype
    • 17599605 10.1016/j.jacc.2007.02.061 1:CAS:528:DC%2BD2sXntFyhs78%3D
    • Kubo T, et al. Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype. J Am Coll Cardiol. 2007;49(25):2419-26.
    • (2007) J Am Coll Cardiol , vol.49 , Issue.25 , pp. 2419-2426
    • Kubo, T.1
  • 9
    • 0033610050 scopus 로고    scopus 로고
    • Structural analysis of the titin gene in hypertrophic cardiomyopathy: Identification of a novel disease gene
    • 10462489 10.1006/bbrc.1999.1221 1:CAS:528:DyaK1MXltlynsLw%3D
    • Satoh M, et al. Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene. Biochem Biophys Res Commun. 1999;262(2):411-7.
    • (1999) Biochem Biophys Res Commun , vol.262 , Issue.2 , pp. 411-417
    • Satoh, M.1
  • 10
    • 84863116641 scopus 로고    scopus 로고
    • Truncations of titin causing dilated cardiomyopathy
    • 22335739 10.1056/NEJMoa1110186 1:CAS:528:DC%2BC38Xis1Kqsro%3D This highly impactful study showed that truncating mutations of the gene TTN are implicated in approximately 25 % of familial DCM and in 18 % of sporadic cases, which has important implications for clinical genetic testing for this condition
    • •• Herman DS, et al. Truncations of titin causing dilated cardiomyopathy. N Engl J Med. 2012;366(7):619-28. This highly impactful study showed that truncating mutations of the gene TTN are implicated in approximately 25 % of familial DCM and in 18 % of sporadic cases, which has important implications for clinical genetic testing for this condition.
    • (2012) N Engl J Med , vol.366 , Issue.7 , pp. 619-628
    • Herman, D.S.1
  • 11
    • 67650747244 scopus 로고    scopus 로고
    • Stressing the giant: A new approach to understanding dilated cardiomyopathy
    • 19555694 10.1016/j.yjmcc.2009.06.011 1:CAS:528:DC%2BD1MXptVegsL0%3D
    • Greaser ML. Stressing the giant: a new approach to understanding dilated cardiomyopathy. J Mol Cell Cardiol. 2009;47(3):347-9.
    • (2009) J Mol Cell Cardiol , vol.47 , Issue.3 , pp. 347-349
    • Greaser, M.L.1
  • 12
    • 80052168218 scopus 로고    scopus 로고
    • Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes
    • 21810661 10.1161/CIRCULATIONAHA.110.005405
    • Taylor M, et al. Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes. Circulation. 2011;124(8):876-85.
    • (2011) Circulation , vol.124 , Issue.8 , pp. 876-885
    • Taylor, M.1
  • 13
    • 77649185345 scopus 로고    scopus 로고
    • Progress with genetic cardiomyopathies: Screening, counseling, and testing in dilated, hypertrophic, and arrhythmogenic right ventricular dysplasia/cardiomyopathy
    • 19808347 10.1161/CIRCHEARTFAILURE.108.817346
    • Hershberger RE, et al. Progress with genetic cardiomyopathies: screening, counseling, and testing in dilated, hypertrophic, and arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Heart Fail. 2009;2(3):253-61.
    • (2009) Circ Heart Fail , vol.2 , Issue.3 , pp. 253-261
    • Hershberger, R.E.1
  • 14
    • 71649109002 scopus 로고    scopus 로고
    • Use of genetics in the clinical evaluation of cardiomyopathy
    • 19996403 10.1001/jama.2009.1787 1:CAS:528:DC%2BD1MXhsFCntLbJ
    • Judge DP. Use of genetics in the clinical evaluation of cardiomyopathy. JAMA. 2009;302(22):2471-6.
    • (2009) JAMA , vol.302 , Issue.22 , pp. 2471-2476
    • Judge, D.P.1
  • 15
    • 75949105644 scopus 로고    scopus 로고
    • A new era in clinical genetic testing for hypertrophic cardiomyopathy
    • 20559996 10.1007/s12265-009-9139-0
    • Wheeler M, et al. A new era in clinical genetic testing for hypertrophic cardiomyopathy. J Cardiovasc Transl Res. 2009;2(4):381-91.
    • (2009) J Cardiovasc Transl Res , vol.2 , Issue.4 , pp. 381-391
    • Wheeler, M.1
  • 16
    • 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
    • 7641357 10.1161/01.CIR.92.4.785 1:STN:280:DyaK2MzmvVyisg%3D%3D
    • Maron BJ, et al. 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(4):785-9.
    • (1995) Circulation , vol.92 , Issue.4 , pp. 785-789
    • Maron, B.J.1
  • 17
    • 0042734704 scopus 로고    scopus 로고
    • Sudden death in young athletes
    • 12968091 10.1056/NEJMra022783 1:CAS:528:DC%2BD3sXntlaguro%3D
    • Maron BJ. Sudden death in young athletes. N Engl J Med. 2003;349(11):1064-75.
    • (2003) N Engl J Med , vol.349 , Issue.11 , pp. 1064-1075
    • Maron, B.J.1
  • 18
    • 77952157390 scopus 로고    scopus 로고
    • Genetics of hypertrophic cardiomyopathy
    • 20124998 10.1097/HCO.0b013e3283375698
    • Konno T, et al. Genetics of hypertrophic cardiomyopathy. Curr Opin Cardiol. 2010;25(3):205-9.
    • (2010) Curr Opin Cardiol , vol.25 , Issue.3 , pp. 205-209
    • Konno, T.1
  • 19
    • 0032499634 scopus 로고    scopus 로고
    • Clinical features and prognostic implications of familial hypertrophic cardiomyopathy related to the cardiac myosin-binding protein C gene
    • 9631872 10.1161/01.CIR.97.22.2230 1:STN:280:DyaK1c3ptlKgsQ%3D%3D
    • Charron P, et al. Clinical features and prognostic implications of familial hypertrophic cardiomyopathy related to the cardiac myosin-binding protein C gene. Circulation. 1998;97(22):2230-6.
    • (1998) Circulation , vol.97 , Issue.22 , pp. 2230-2236
    • Charron, P.1
  • 20
    • 0032580520 scopus 로고    scopus 로고
    • Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy
    • 9562578 10.1056/NEJM199804303381802 1:CAS:528:DyaK1cXivF2qtrY%3D
    • Niimura H, et al. Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. N Engl J Med. 1998;338(18):1248-57.
    • (1998) N Engl J Med , vol.338 , Issue.18 , pp. 1248-1257
    • Niimura, H.1
  • 21
    • 84860818609 scopus 로고    scopus 로고
    • Cardiac myosin binding protein-C mutations in families with hypertrophic cardiomyopathy: Disease expression in relation to age, gender, and long term outcome
    • 22267749 10.1161/CIRCGENETICS.111.960831 1:CAS:528:DC%2BC38Xos1WgtLY%3D
    • Page SP, et al. Cardiac myosin binding protein-C mutations in families with hypertrophic cardiomyopathy: disease expression in relation to age, gender, and long term outcome. Circ Cardiovasc Genet. 2012;5(2):156-66.
    • (2012) Circ Cardiovasc Genet , vol.5 , Issue.2 , pp. 156-166
    • Page, S.P.1
  • 22
    • 79952311961 scopus 로고    scopus 로고
    • Clinical spectrum in a family with tropomyosin-mediated hypertrophic cardiomyopathy and sudden death in childhood
    • 21085943 10.1007/s00246-010-9843-1
    • Makhoul M, et al. Clinical spectrum in a family with tropomyosin-mediated hypertrophic cardiomyopathy and sudden death in childhood. Pediatr Cardiol. 2011;32(2):215-20.
    • (2011) Pediatr Cardiol , vol.32 , Issue.2 , pp. 215-220
    • Makhoul, M.1
  • 23
    • 78649631986 scopus 로고    scopus 로고
    • Clinical and genetic issues in dilated cardiomyopathy: A review for genetics professionals
    • 20864896 10.1097/GIM.0b013e3181f2481f 1:CAS:528:DC%2BC3cXhsVWhur3K
    • Hershberger RE, Morales A, Siegfried JD. Clinical and genetic issues in dilated cardiomyopathy: a review for genetics professionals. Genet Med. 2010;12(11):655-67.
    • (2010) Genet Med , vol.12 , Issue.11 , pp. 655-667
    • Hershberger, R.E.1    Morales, A.2    Siegfried, J.D.3
  • 24
    • 0031951537 scopus 로고    scopus 로고
    • Frequency and phenotypes of familial dilated cardiomyopathy
    • 9426039 10.1016/S0735-1097(97)00434-8 1:STN:280:DyaK1c%2Fos1Sjug%3D%3D
    • Grunig E, et al. Frequency and phenotypes of familial dilated cardiomyopathy. J Am Coll Cardiol. 1998;31(1):186-94.
    • (1998) J Am Coll Cardiol , vol.31 , Issue.1 , pp. 186-194
    • Grunig, E.1
  • 25
    • 0026319459 scopus 로고
    • The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy
    • 1727235 10.1056/NEJM199201093260201 1:STN:280:DyaK38%2FotVSjsA%3D%3D
    • Michels VV, et al. The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy. N Engl J Med. 1992;326(2):77-82.
    • (1992) N Engl J Med , vol.326 , Issue.2 , pp. 77-82
    • Michels, V.V.1
  • 26
    • 15944403997 scopus 로고    scopus 로고
    • Clinical and genetic issues in familial dilated cardiomyopathy
    • 15808750 10.1016/j.jacc.2004.11.066 1:CAS:528:DC%2BD2MXivV2hu7w%3D
    • Burkett EL, Hershberger RE. Clinical and genetic issues in familial dilated cardiomyopathy. J Am Coll Cardiol. 2005;45(7):969-81.
    • (2005) J Am Coll Cardiol , vol.45 , Issue.7 , pp. 969-981
    • Burkett, E.L.1    Hershberger, R.E.2
  • 27
    • 79953842000 scopus 로고    scopus 로고
    • Update 2011: Clinical and genetic issues in familial dilated cardiomyopathy
    • 21492761 10.1016/j.jacc.2011.01.015 1:CAS:528:DC%2BC3MXntVCmt78%3D
    • Hershberger RE, Siegfried JD. Update 2011: clinical and genetic issues in familial dilated cardiomyopathy. J Am Coll Cardiol. 2011;57(16):1641-9.
    • (2011) J Am Coll Cardiol , vol.57 , Issue.16 , pp. 1641-1649
    • Hershberger, R.E.1    Siegfried, J.D.2
  • 28
    • 77951888116 scopus 로고    scopus 로고
    • Arrhythmogenic cardiomyopathy: Etiology, diagnosis, and treatment
    • 20059337 10.1146/annurev.med.052208.130419 1:CAS:528:DC%2BC3cXisFylsLc%3D
    • Sen-Chowdhry S, et al. Arrhythmogenic cardiomyopathy: etiology, diagnosis, and treatment. Annu Rev Med. 2010;61:233-53.
    • (2010) Annu Rev Med , vol.61 , pp. 233-253
    • Sen-Chowdhry, S.1
  • 29
    • 77950482741 scopus 로고    scopus 로고
    • Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: Proposed modification of the Task Force Criteria
    • 20172912 10.1093/eurheartj/ehq025
    • Marcus FI, et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria. Eur Heart J. 2010;31(7):806-14.
    • (2010) Eur Heart J , vol.31 , Issue.7 , pp. 806-814
    • Marcus, F.I.1
  • 30
    • 57449085722 scopus 로고    scopus 로고
    • Left-dominant arrhythmogenic cardiomyopathy: An under-recognized clinical entity
    • 19095136 10.1016/j.jacc.2008.09.019
    • Sen-Chowdhry S, et al. Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity. J Am Coll Cardiol. 2008;52(25):2175-87.
    • (2008) J Am Coll Cardiol , vol.52 , Issue.25 , pp. 2175-2187
    • Sen-Chowdhry, S.1
  • 31
    • 79959569308 scopus 로고    scopus 로고
    • Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: Impact of genetics and revised task force criteria
    • 21606390 10.1161/CIRCULATIONAHA.110.976936
    • Quarta G, et al. Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria. Circulation. 2011;123(23):2701-9.
    • (2011) Circulation , vol.123 , Issue.23 , pp. 2701-2709
    • Quarta, G.1
  • 32
    • 75249083039 scopus 로고    scopus 로고
    • Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy
    • 20152563 10.1016/j.jacc.2009.11.020 1:CAS:528:DC%2BC3cXjt1Gmsrs%3D
    • Xu T, et al. Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol. 2010;55(6):587-97.
    • (2010) J Am Coll Cardiol , vol.55 , Issue.6 , pp. 587-597
    • Xu, T.1
  • 33
    • 78649283173 scopus 로고    scopus 로고
    • Mutational heterogeneity, modifier genes, and environmental influences contribute to phenotypic diversity of arrhythmogenic cardiomyopathy
    • 20570917 10.1161/CIRCGENETICS.109.935262
    • Sen-Chowdhry S, et al. Mutational heterogeneity, modifier genes, and environmental influences contribute to phenotypic diversity of arrhythmogenic cardiomyopathy. Circ Cardiovasc Genet. 2010;3(4):323-30.
    • (2010) Circ Cardiovasc Genet , vol.3 , Issue.4 , pp. 323-330
    • Sen-Chowdhry, S.1
  • 34
    • 33646693410 scopus 로고    scopus 로고
    • Contemporary definitions and classification of the cardiomyopathies: An American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; And Council on Epidemiology and Prevention
    • 16567565 10.1161/CIRCULATIONAHA.106.174287
    • Maron BJ, et al. Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. Circulation. 2006;113(14):1807-16.
    • (2006) Circulation , vol.113 , Issue.14 , pp. 1807-1816
    • Maron, B.J.1
  • 35
    • 36349024609 scopus 로고    scopus 로고
    • Noncompaction of the left ventricle: Primary cardiomyopathy with an elusive genetic etiology
    • 18025927 10.1097/MOP.0b013e3282f1ecbc
    • Zaragoza MV, Arbustini E, Narula J. Noncompaction of the left ventricle: primary cardiomyopathy with an elusive genetic etiology. Curr Opin Pediatr. 2007;19(6):619-27.
    • (2007) Curr Opin Pediatr , vol.19 , Issue.6 , pp. 619-627
    • Zaragoza, M.V.1    Arbustini, E.2    Narula, J.3
  • 36
    • 0030774767 scopus 로고    scopus 로고
    • Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome
    • 9382097 10.1086/514879 1:CAS:528:DyaK2sXmslCns7Y%3D
    • Bleyl SB, et al. Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome. Am J Hum Genet. 1997;61(4):868-72.
    • (1997) Am J Hum Genet , vol.61 , Issue.4 , pp. 868-872
    • Bleyl, S.B.1
  • 37
    • 77955880540 scopus 로고    scopus 로고
    • The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy
    • 20530761 10.1161/CIRCGENETICS.109.903898
    • Hoedemaekers YM, et al. The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy. Circ Cardiovasc Genet. 2010;3(3):232-9.
    • (2010) Circ Cardiovasc Genet , vol.3 , Issue.3 , pp. 232-239
    • Hoedemaekers, Y.M.1
  • 38
    • 77949899628 scopus 로고    scopus 로고
    • Genetics of restrictive cardiomyopathy
    • 20347786 10.1016/j.hfc.2009.11.005
    • Sen-Chowdhry S, Syrris P, McKenna WJ. Genetics of restrictive cardiomyopathy. Heart Fail Clin. 2010;6(2):179-86.
    • (2010) Heart Fail Clin , vol.6 , Issue.2 , pp. 179-186
    • Sen-Chowdhry, S.1    Syrris, P.2    McKenna, W.J.3
  • 39
    • 0025162220 scopus 로고
    • Familial restrictive cardiomyopathy with atrioventricular block and skeletal myopathy
    • 2317404 10.1136/hrt.63.2.114 1:STN:280:DyaK3c7pvVOmtw%3D%3D
    • Fitzpatrick AP, et al. Familial restrictive cardiomyopathy with atrioventricular block and skeletal myopathy. Br Heart J. 1990;63(2):114-8.
    • (1990) Br Heart J , vol.63 , Issue.2 , pp. 114-118
    • Fitzpatrick, A.P.1
  • 40
    • 0037238265 scopus 로고    scopus 로고
    • Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin i mutations
    • 12531876 1:CAS:528:DC%2BD3sXlsVGrtQ%3D%3D
    • Mogensen J, et al. Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. J Clin Invest. 2003;111(2):209-16.
    • (2003) J Clin Invest , vol.111 , Issue.2 , pp. 209-216
    • Mogensen, J.1
  • 41
    • 84860389296 scopus 로고    scopus 로고
    • Furthering the link between the sarcomere and primary cardiomyopathies: Restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy
    • 21823217
    • Caleshu C, et al. Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy. Am J Med Genet A. 2011;155A(9):2229-35.
    • (2011) Am J Med Genet A , vol.155 , Issue.9 , pp. 2229-2235
    • Caleshu, C.1
  • 42
    • 38349125429 scopus 로고    scopus 로고
    • Pediatric restrictive cardiomyopathy associated with a mutation in beta-myosin heavy chain
    • 18076673 10.1111/j.1399-0004.2007.00939.x 1:CAS:528:DC%2BD1cXhsV2ht7bN
    • Ware SM, et al. Pediatric restrictive cardiomyopathy associated with a mutation in beta-myosin heavy chain. Clin Genet. 2008;73(2):165-70.
    • (2008) Clin Genet , vol.73 , Issue.2 , pp. 165-170
    • Ware, S.M.1
  • 43
    • 54449102251 scopus 로고    scopus 로고
    • Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes
    • 18467357 10.1136/hrt.2007.134684 1:STN:280:DC%2BD1cnmvVShtw%3D%3D
    • Kaski JP, et al. Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes. Heart. 2008;94(11):1478-84.
    • (2008) Heart , vol.94 , Issue.11 , pp. 1478-1484
    • Kaski, J.P.1
  • 44
    • 79957486466 scopus 로고    scopus 로고
    • Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies
    • 21252143 10.1161/CIRCGENETICS.110.958322 1:CAS:528:DC%2BC3MXntFClsb4%3D
    • Meder B, et al. Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies. Circ Cardiovasc Genet. 2011;4(2):110-22.
    • (2011) Circ Cardiovasc Genet , vol.4 , Issue.2 , pp. 110-122
    • Meder, B.1
  • 45
    • 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, et al. Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. J Am Coll Cardiol. 2004;44(9):1903-10.
    • (2004) J Am Coll Cardiol , vol.44 , Issue.9 , pp. 1903-1910
    • Van Driest, S.L.1
  • 46
    • 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, et al. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation. 2003;107(17):2227-32.
    • (2003) Circulation , vol.107 , Issue.17 , pp. 2227-2232
    • Richard, P.1
  • 47
    • 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, et al. Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations. J Am Coll Cardiol. 2010;55(14):1444-53.
    • (2010) J Am Coll Cardiol , vol.55 , Issue.14 , pp. 1444-1453
    • Girolami, F.1
  • 48
    • 84863631944 scopus 로고    scopus 로고
    • Genetics and cardiovascular disease: A policy statement from the American Heart Association
    • 22645291 10.1161/CIR.0b013e31825b07f8
    • Ashley EA, et al. Genetics and cardiovascular disease: a policy statement from the American Heart Association. Circulation. 2012;126(1):142-57.
    • (2012) Circulation , vol.126 , Issue.1 , pp. 142-157
    • Ashley, E.A.1
  • 49
    • 78049248511 scopus 로고    scopus 로고
    • Use and interpretation of genetic tests in cardiovascular genetics
    • 20937756 10.1136/hrt.2009.190090
    • Caleshu C, et al. Use and interpretation of genetic tests in cardiovascular genetics. Heart. 2010;96(20):1669-75.
    • (2010) Heart , vol.96 , Issue.20 , pp. 1669-1675
    • Caleshu, C.1
  • 50
    • 84873720509 scopus 로고    scopus 로고
    • Washington, U.o. GeneTests. [cited 2012 9/10/12]; Available from: genetests.org.
    • Washington, U.o. GeneTests. [cited 2012 9/10/12]; Available from: genetests.org.
  • 51
    • 84873718733 scopus 로고    scopus 로고
    • National Center for Biotechnology Information, U.S.N.L.o.M. Genetic Testing Registry. 2012 [cited 2012 9/10/12]; Available from
    • National Center for Biotechnology Information, U.S.N.L.o.M. Genetic Testing Registry. 2012 [cited 2012 9/10/12]; Available from: http://www.ncbi.nlm.nih.gov/gtr/.
  • 52
    • 84860174889 scopus 로고    scopus 로고
    • A cost-effectiveness model of genetic testing for the evaluation of families with hypertrophic cardiomyopathy
    • 22128210 10.1136/heartjnl-2011-300368 This study shows that predictive genetic testing is highly cost-effective in HCM families compared to clinical screening alone
    • • Ingles J, et al. A cost-effectiveness model of genetic testing for the evaluation of families with hypertrophic cardiomyopathy. Heart. 2012;98(8):625-30. This study shows that predictive genetic testing is highly cost-effective in HCM families compared to clinical screening alone.
    • (2012) Heart , vol.98 , Issue.8 , pp. 625-630
    • Ingles, J.1
  • 53
    • 84859218872 scopus 로고    scopus 로고
    • Genetic testing for dilated cardiomyopathy in clinical practice
    • 22464770 10.1016/j.cardfail.2012.01.013
    • Lakdawala NK, et al. Genetic testing for dilated cardiomyopathy in clinical practice. J Card Fail. 2012;18(4):296-303.
    • (2012) J Card Fail , vol.18 , Issue.4 , pp. 296-303
    • Lakdawala, N.K.1
  • 54
    • 84858669699 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy in 2012
    • 22431884 10.1161/CIRCULATIONAHA.110.017277
    • Ho CY. Hypertrophic cardiomyopathy in 2012. Circulation. 2012;125(11):1432-8.
    • (2012) Circulation , vol.125 , Issue.11 , pp. 1432-1438
    • Ho, C.Y.1
  • 55
    • 84975742565 scopus 로고    scopus 로고
    • A map of human genome variation from population-scale sequencing
    • A map of human genome variation from population-scale sequencing. Nature. 2010;467(7319):1061-73. http://www.ncbi.nlm.nih.gov/pubmed/20981092.
    • (2010) Nature , vol.467 , Issue.7319 , pp. 1061-1073
  • 56
    • 84863556835 scopus 로고    scopus 로고
    • Evolution and functional impact of rare coding variation from deep sequencing of human exomes
    • 22604720 10.1126/science.1219240 1:CAS:528:DC%2BC38XpsFKksrY%3D
    • Tennessen JA, et al. Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science. 2012;337(6090):64-9.
    • (2012) Science , vol.337 , Issue.6090 , pp. 64-69
    • Tennessen, J.A.1
  • 57
    • 84867824466 scopus 로고    scopus 로고
    • Population-based variation in cardiomyopathy genes
    • 22763267 10.1161/CIRCGENETICS.112.962928 By querying the 1000 Genomes Project database, this study showed that the frequency of predicted pathogenic variants in genes associated with cardiomyopathies was higher than expected based on known cardiomyopathy prevalence data
    • • Golbus JR, et al. Population-based variation in cardiomyopathy genes. Circ Cardiovasc Genet. 2012;5(4):391-9. By querying the 1000 Genomes Project database, this study showed that the frequency of predicted pathogenic variants in genes associated with cardiomyopathies was higher than expected based on known cardiomyopathy prevalence data.
    • (2012) Circ Cardiovasc Genet , vol.5 , Issue.4 , pp. 391-399
    • Golbus, J.R.1
  • 58
    • 79957975773 scopus 로고    scopus 로고
    • Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia- associated mutations from background genetic noise
    • 21636032 10.1016/j.jacc.2010.12.036 1:CAS:528:DC%2BC3MXos1Kltbo%3D
    • Kapplinger JD, et al. Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise. J Am Coll Cardiol. 2011;57(23):2317-27.
    • (2011) J Am Coll Cardiol , vol.57 , Issue.23 , pp. 2317-2327
    • Kapplinger, J.D.1
  • 59
    • 33745025710 scopus 로고    scopus 로고
    • A new definition of Genetic Counseling: National Society of Genetic Counselors' Task Force report
    • 16761103 10.1007/s10897-005-9014-3
    • Resta R, et al. A new definition of Genetic Counseling: National Society of Genetic Counselors' Task Force report. J Genet Couns. 2006;15(2):77-83.
    • (2006) J Genet Couns , vol.15 , Issue.2 , pp. 77-83
    • Resta, R.1
  • 60
    • 44449088050 scopus 로고    scopus 로고
    • Genetic testing and genetic counseling in cardiovascular genetic medicine: Overview and preliminary recommendations
    • 18401220 10.1111/j.1751-7133.2008.08217.x
    • Cowan J, et al. Genetic testing and genetic counseling in cardiovascular genetic medicine: overview and preliminary recommendations. Congest Heart Fail. 2008;14(2):97-105.
    • (2008) Congest Heart Fail , vol.14 , Issue.2 , pp. 97-105
    • Cowan, J.1
  • 61
    • 83055174616 scopus 로고    scopus 로고
    • ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy
    • 22075469 10.1016/j.jacc.2011.06.011 1:CAS:528:DC%2BC38XhsFCksLw%3D, A report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. Developed in collaboration with the 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, and Society of Thoracic Surgeons
    • Gersh BJ, et al. 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. Developed in collaboration with the 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, and Society of Thoracic Surgeons. J Am Coll Cardiol. 2011;58(25):e212-60.
    • (2011) J Am Coll Cardiol , vol.58 , Issue.25
    • Gersh, B.J.1
  • 62
    • 43049102099 scopus 로고    scopus 로고
    • Family history: An essential tool for cardiovascular genetic medicine
    • 18256568 10.1111/j.1751-7133.2008.08201.x
    • Morales A, et al. Family history: an essential tool for cardiovascular genetic medicine. Congest Heart Fail. 2008;14(1):37-45.
    • (2008) Congest Heart Fail , vol.14 , Issue.1 , pp. 37-45
    • Morales, A.1
  • 63
    • 84859429935 scopus 로고    scopus 로고
    • PGD for inherited cardiac diseases
    • 22386593 10.1016/j.rbmo.2011.12.009
    • Kuliev A, et al. PGD for inherited cardiac diseases. Reprod Biomed Online. 2012;24(4):443-53.
    • (2012) Reprod Biomed Online , vol.24 , Issue.4 , pp. 443-453
    • Kuliev, A.1
  • 64
    • 60949109965 scopus 로고    scopus 로고
    • Cardiovascular genetic medicine: Evolving concepts, rationale, and implementation
    • 20559908 10.1007/s12265-008-9031-3
    • Hershberger RE. Cardiovascular genetic medicine: evolving concepts, rationale, and implementation. J Cardiovasc Transl Res. 2008;1(2):137-43.
    • (2008) J Cardiovasc Transl Res , vol.1 , Issue.2 , pp. 137-143
    • Hershberger, R.E.1
  • 65
    • 79952798922 scopus 로고    scopus 로고
    • Psychological issues in genetic testing for inherited cardiovascular diseases
    • 21325164 10.1161/CIRCGENETICS.110.957365 This is an outstanding review of the issues patients face from a psychological standpoint when undergoing genetic testing for heritable heart diseases
    • • Aatre RD, Day SM. Psychological issues in genetic testing for inherited cardiovascular diseases. Circ Cardiovasc Genet. 2011;4(1):81-90. This is an outstanding review of the issues patients face from a psychological standpoint when undergoing genetic testing for heritable heart diseases.
    • (2011) Circ Cardiovasc Genet , vol.4 , Issue.1 , pp. 81-90
    • Aatre, R.D.1    Day, S.M.2
  • 66
    • 61749103370 scopus 로고    scopus 로고
    • Family letters are an effective way to inform relatives about inherited cardiac disease
    • 19213028 10.1002/ajmg.a.32672
    • van der Roest WP, et al. Family letters are an effective way to inform relatives about inherited cardiac disease. Am J Med Genet A. 2009;149A(3):357-63.
    • (2009) Am J Med Genet A , vol.149 , Issue.3 , pp. 357-363
    • Van Der Roest, W.P.1


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