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Volumn 12, Issue 11, 2010, Pages 655-667

Clinical and genetic issues in dilated cardiomyopathy: A review for genetics professionals

Author keywords

dilated cardiomyopathy; genetic counseling; genetic testing; genetics

Indexed keywords

ADRENERGIC RECEPTOR STIMULATING AGENT; ANTHRACYCLINE; COCAINE; DOXORUBICIN; MITOCHONDRIAL DNA; TOXIN; TRASTUZUMAB;

EID: 78649631986     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e3181f2481f     Document Type: Review
Times cited : (205)

References (131)
  • 1
    • 60949109965 scopus 로고    scopus 로고
    • Cardiovascular genetic medicine: Evolving concepts, rationale and implementation
    • Hershberger RE. Cardiovascular genetic medicine: evolving concepts, rationale and implementation. J Cardiovasc Trans Res 2008;1:137-143.
    • (2008) J Cardiovasc Trans Res , vol.1 , pp. 137-143
    • Hershberger, R.E.1
  • 3
    • 77949898544 scopus 로고    scopus 로고
    • A glimpse into multigene rare variant genetics: Triple mutations in hypertrophic cardiomyopathy
    • Hershberger RE. A glimpse into multigene rare variant genetics: triple mutations in hypertrophic cardiomyopathy. J Am Coll Cardiol 2010;55: 1454-1455.
    • (2010) J Am Coll Cardiol , vol.55 , pp. 1454-1455
    • Hershberger, R.E.1
  • 4
    • 15944403997 scopus 로고    scopus 로고
    • Clinical and genetic issues in familial dilated cardiomyopathy
    • Burkett EL, Hershberger RE. Clinical and genetic issues in familial dilated cardiomyopathy. J Am Coll Cardiol 2005;45:969-981.
    • (2005) J Am Coll Cardiol , vol.45 , pp. 969-981
    • Burkett, E.L.1    Hershberger, R.E.2
  • 5
    • 0032934453 scopus 로고    scopus 로고
    • Guidelines for the study of familial dilated cardiomyopathies
    • Mestroni L, Maisch B, McKenna W, et al. Guidelines for the study of familial dilated cardiomyopathies. Eur Heart J 1999;20:93-102.
    • (1999) Eur Heart J , vol.20 , pp. 93-102
    • Mestroni, L.1    Maisch, B.2    McKenna, W.3
  • 6
    • 0028116218 scopus 로고
    • Idiopathic dilated cardiomyopathy
    • Dec G, Fuster V. Idiopathic dilated cardiomyopathy. N Engl J Med 1994; 331:1564-1575.
    • (1994) N Engl J Med , vol.331 , pp. 1564-1575
    • Dec, G.1    Fuster, V.2
  • 7
    • 0026629099 scopus 로고
    • Prevalence and etiology of idiopathic dilated cardiomyopathy (summary of a National Heart, Lung, and Blood Institute workshop [see comments])
    • Manolio TA, Baughman KL, Rodeheffer R, et al. Prevalence and etiology of idiopathic dilated cardiomyopathy (summary of a National Heart, Lung, and Blood Institute workshop [see comments]). Am J Cardiol 1992;69: 1458-1466.
    • (1992) Am J Cardiol , vol.69 , pp. 1458-1466
    • Manolio, T.A.1    Baughman, K.L.2    Rodeheffer, R.3
  • 9
    • 0037070514 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy: A systematic review
    • Maron BJ. Hypertrophic cardiomyopathy: a systematic review. JAMA 2002;287:1308-1320.
    • (2002) JAMA , vol.287 , pp. 1308-1320
    • Maron, B.J.1
  • 10
    • 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
  • 11
    • 77649185345 scopus 로고    scopus 로고
    • Progress with genetic cardiomyopathies: Screening, counseling, and testing in dilated, hypertro-phic, and arrhythmogenic right ventricular dysplasia/cardiomyopathy
    • Hershberger RE, Cowan J, Morales A, Siegfried JD. Progress with genetic cardiomyopathies: screening, counseling, and testing in dilated, hypertro-phic, and arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Heart Fail 2009;2:253-261.
    • (2009) Circ Heart Fail , vol.2 , pp. 253-261
    • Hershberger, R.E.1    Cowan, J.2    Morales, A.3    Siegfried, J.D.4
  • 13
    • 77953023261 scopus 로고    scopus 로고
    • Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1 and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy
    • Hershberger R, Norton N, Morales A, et al. Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1 And TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. Circ Cardio-vasc Genet 2010;3:155-161.
    • (2010) Circ Cardio-vasc Genet , vol.3 , pp. 155-161
    • Hershberger, R.1    Norton, N.2    Morales, A.3
  • 14
    • 60949103027 scopus 로고    scopus 로고
    • Genetic evaluation of cardiomyopathy\a Heart Failure Society of America practice guideline
    • Hershberger RE, Lindenfeld J, Mestroni L, et al. Genetic evaluation of cardiomyopathy\a Heart Failure Society of America practice guideline. J Card Fail 2009;15:83-97.
    • (2009) J Card Fail , vol.15 , pp. 83-97
    • Hershberger, R.E.1    Lindenfeld, J.2    Mestroni, L.3
  • 15
    • 0032076955 scopus 로고    scopus 로고
    • Actin mutations in dilated cardiomyopathy, a heritable form of heart failure
    • Olson TM, Michels VV, Thibodeau SN, Tai YS, Keating MT. Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science 1998;280:750-752.
    • (1998) Science , vol.280 , pp. 750-752
    • Olson, T.M.1    Michels, V.V.2    Thibodeau, S.N.3    Tai, Y.S.4    Keating, M.T.5
  • 16
    • 0032827551 scopus 로고    scopus 로고
    • Cardiac and skeletal actin gene mutations are not a common cause of dilated cardiomyopathy
    • Mayosa B, Khogali S, Zhang B, Watkins H. Cardiac and skeletal actin gene mutations are not a common cause of dilated cardiomyopathy. J Med Genet 1999;36:796-797.
    • (1999) J Med Genet , vol.36 , pp. 796-797
    • Mayosa, B.1    Khogali, S.2    Zhang, B.3    Watkins, H.4
  • 17
    • 0032821024 scopus 로고    scopus 로고
    • Mutational analysis of the cardiac actin gene in familial and sporadic dilated cardiomyopathy
    • Takai E, Akita H, Shiga N, et al. Mutational analysis of the cardiac actin gene in familial and sporadic dilated cardiomyopathy. Am J Med Genet 1999;86:325-327.
    • (1999) Am J Med Genet , vol.86 , pp. 325-327
    • Takai, E.1    Akita, H.2    Shiga, N.3
  • 18
    • 0033730389 scopus 로고    scopus 로고
    • Epidemiology of desmin and cardiac actin gene mutations in a european population of dilated cardiomyopathy [In Process Citation]
    • Tesson F, Sylvius N, Pilotto A, et al. Epidemiology of desmin and cardiac actin gene mutations in a european population of dilated cardiomyopathy [In Process Citation]. Eur Heart J 2000;21:1872-1876.
    • (2000) Eur Heart J , vol.21 , pp. 1872-1876
    • Tesson, F.1    Sylvius, N.2    Pilotto, A.3
  • 19
    • 21744443508 scopus 로고    scopus 로고
    • Epidemiology of cardiac actin gene mutations in dilated cardiomyopathy
    • Zolty R, Brodsky G, Perryman B, Bristow M, Mestroni L. Epidemiology of cardiac actin gene mutations in dilated cardiomyopathy. J Card Fail 1999;5:(suppl 1):23.
    • (1999) J Card Fail , vol.5 , Issue.SUPPL. 1 , pp. 23
    • Zolty, R.1    Brodsky, G.2    Perryman, B.3    Bristow, M.4    Mestroni, L.5
  • 20
    • 33947727990 scopus 로고    scopus 로고
    • Prevalence of desmin mutations in dilated cardiomyopathy
    • Taylor MR, Slavov D, Ku L, et al. Prevalence of desmin mutations in dilated cardiomyopathy. Circulation 2007;115:1244-1251.
    • (2007) Circulation , vol.115 , pp. 1244-1251
    • Taylor, M.R.1    Slavov, D.2    Ku, L.3
  • 21
    • 0033520037 scopus 로고    scopus 로고
    • Desmin mutation responsible for idiopathic dilated cardiomyopathy
    • Li D, Tapscoft T, Gonzalez O, et al. Desmin mutation responsible for idiopathic dilated cardiomyopathy. Circulation 1999;100:461-464.
    • (1999) Circulation , vol.100 , pp. 461-464
    • Li, D.1    Tapscoft, T.2    Gonzalez, O.3
  • 22
    • 0346725874 scopus 로고    scopus 로고
    • A novel mutation, Arg71Thr, in the delta-sarcoglycan gene is associated with dilated cardio-myopathy
    • Karkkainen S, Miettinen R, Tuomainen P, et al. A novel mutation, Arg71Thr, in the delta-sarcoglycan gene is associated with dilated cardio-myopathy. J Mol Med 2003;81:795-800.
    • (2003) J Mol Med , vol.81 , pp. 795-800
    • Karkkainen, S.1    Miettinen, R.2    Tuomainen, P.3
  • 23
    • 0033818186 scopus 로고    scopus 로고
    • Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy
    • Tsubata S, Bowles KR, Vatta M, et al. Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. J Clin Invest 2000;106:655-662.
    • (2000) J Clin Invest , vol.106 , pp. 655-662
    • Tsubata, S.1    Bowles, K.R.2    Vatta, M.3
  • 24
    • 0041321260 scopus 로고    scopus 로고
    • Mutational analysis of the beta-and delta-sarcoglycan genes in a large number of patients with familial and sporadic dilated cardiomyopathy
    • Sylvius N, Duboscq-Bidot L, Bouchier C, et al. Mutational analysis of the beta-and delta-sarcoglycan genes in a large number of patients with familial and sporadic dilated cardiomyopathy. Am J Med Genet 2003;120A:8-12.
    • (2003) Am J Med Genet , vol.120 A , pp. 8-12
    • Sylvius, N.1    Duboscq-Bidot, L.2    Bouchier, C.3
  • 25
    • 55149117580 scopus 로고    scopus 로고
    • Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy
    • Hershberger RE, Parks SB, Kushner JD, et al. Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. Clin Transl Sci 2008;1:21-26.
    • (2008) Clin Transl Sci , vol.1 , pp. 21-26
    • Hershberger, R.E.1    Parks, S.B.2    Kushner, J.D.3
  • 26
    • 0034619996 scopus 로고    scopus 로고
    • Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy
    • Kamisago M, Sharma SD, DePalma SR, et al. Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N Engl J Med 2000; 343:1688-1696.
    • (2000) N Engl J Med , vol.343 , pp. 1688-1696
    • Kamisago, M.1    Sharma, S.D.2    Depalma, S.R.3
  • 27
    • 17444407002 scopus 로고    scopus 로고
    • Mutation screening in dilated cardiomyopathy: Prominent role of the beta myosin heavy chain gene
    • Villard E, Duboscq-Bidot L, Charron P, et al. Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. Eur Heart J 2005;26:794-803.
    • (2005) Eur Heart J , vol.26 , pp. 794-803
    • Villard, E.1    Duboscq-Bidot, L.2    Charron, P.3
  • 28
    • 0036401384 scopus 로고    scopus 로고
    • Novel mutations in sarcomeric protein genes in dilated cardiomyopathy
    • Daehmlow S, Erdmann J, Knueppel T, et al. Novel mutations in sarcomeric protein genes in dilated cardiomyopathy. Biochem Biophys Res Commun 2002;298:116-120.
    • (2002) Biochem Biophys Res Commun , vol.298 , pp. 116-120
    • Daehmlow, S.1    Erdmann, J.2    Knueppel, T.3
  • 29
    • 0036174030 scopus 로고    scopus 로고
    • Cardiac troponin T lysine-210 deletion in a family with dilated cardiomyopathy
    • Hanson E, Jakobs P, Keegan H, et al. Cardiac troponin T lysine-210 deletion in a family with dilated cardiomyopathy. J Card Fail 2002;8:28-32.
    • (2002) J Card Fail , vol.8 , pp. 28-32
    • Hanson, E.1    Jakobs, P.2    Keegan, H.3
  • 30
    • 8144224216 scopus 로고    scopus 로고
    • Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy
    • Mogensen J, Murphy RT, Shaw T, et al. Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. J Am Coll Cardiol 2004;44:2033-2040.
    • (2004) J Am Coll Cardiol , vol.44 , pp. 2033-2040
    • Mogensen, J.1    Murphy, R.T.2    Shaw, T.3
  • 31
    • 0035975958 scopus 로고    scopus 로고
    • Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy
    • Li D, Czernuszewicz GZ, Gonzalez O, et al. Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy. Circulation 2001; 104:2188-2193.
    • (2001) Circulation , vol.104 , pp. 2188-2193
    • Li, D.1    Czernuszewicz, G.Z.2    Gonzalez, O.3
  • 32
    • 70349628869 scopus 로고    scopus 로고
    • The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy
    • Moller DV, Andersen PS, Hedley P, et al. The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy. Eur J Hum Genet 2009;17:1241-1249.
    • (2009) Eur J Hum Genet , vol.17 , pp. 1241-1249
    • Moller, D.V.1    Andersen, P.S.2    Hedley, P.3
  • 33
    • 0034971165 scopus 로고    scopus 로고
    • Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated car-diomyopathy
    • Olson TM, Kishimoto NY, Whitby FG, Michels VV. Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated car-diomyopathy. J Mol Cell Cardiol 2001;33:723-732.
    • (2001) J Mol Cell Cardiol , vol.33 , pp. 723-732
    • Olson, T.M.1    Kishimoto, N.Y.2    Whitby, F.G.3    Michels, V.V.4
  • 34
    • 74049128182 scopus 로고    scopus 로고
    • Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: The distinctive natural history of sarco-meric dilated cardiomyopathy
    • Lakdawala NK, Dellefave L, Redwood CS, et al. Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarco-meric dilated cardiomyopathy. J Am Coll Cardiol 2010;55:320-329.
    • (2010) J Am Coll Cardiol , vol.55 , pp. 320-329
    • Lakdawala, N.K.1    Dellefave, L.2    Redwood, C.S.3
  • 35
    • 0005692850 scopus 로고    scopus 로고
    • Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy
    • Gerull B, Gramlich M, Atherton J, et al. Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Nat Genet 2002;14:14.
    • (2002) Nat Genet , vol.14 , pp. 14
    • Gerull, B.1    Gramlich, M.2    Atherton, J.3
  • 36
    • 0037192309 scopus 로고    scopus 로고
    • Metavinculin mutations alter actin interaction in dilated cardiomyopathy
    • Olson TM, Illenberger S, Kishimoto NY, et al. Metavinculin mutations alter actin interaction in dilated cardiomyopathy. Circulation 2002;105: 431-437.
    • (2002) Circulation , vol.105 , pp. 431-437
    • Olson, T.M.1    Illenberger, S.2    Kishimoto, N.Y.3
  • 37
    • 0037184992 scopus 로고    scopus 로고
    • The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy
    • Knoll R, Hoshijima M, Hoffman HM, et al. The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy. Cell 2002;111:943-955.
    • (2002) Cell , vol.111 , pp. 943-955
    • Knoll, R.1    Hoshijima, M.2    Hoffman, H.M.3
  • 38
    • 0142058043 scopus 로고    scopus 로고
    • Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocar-dial fibroelastosis
    • Mohapatra B, Jimenez S, Lin JH, et al. Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocar-dial fibroelastosis. Mol Genet Metab 2003;80:207-215.
    • (2003) Mol Genet Metab , vol.80 , pp. 207-215
    • Mohapatra, B.1    Jimenez, S.2    Lin, J.H.3
  • 39
    • 0037470512 scopus 로고    scopus 로고
    • Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban
    • Schmitt JP, Kamisago M, Asahi M, et al. Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. Science 2003;299:1410-1413.
    • (2003) Science , vol.299 , pp. 1410-1413
    • Schmitt, J.P.1    Kamisago, M.2    Asahi, M.3
  • 40
    • 85047687537 scopus 로고    scopus 로고
    • Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human
    • Haghighi K, Kolokathis F, Pater L, et al. Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human. J Clin Invest 2003;111:869-876.
    • (2003) J Clin Invest , vol.111 , pp. 869-876
    • Haghighi, K.1    Kolokathis, F.2    Pater, L.3
  • 41
    • 0344873698 scopus 로고    scopus 로고
    • Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction
    • Vatta M, Mohapatra B, Jimenez S, et al. Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. J Am Coll Cardiol 2003;42:2014-2027.
    • (2003) J Am Coll Cardiol , vol.42 , pp. 2014-2027
    • Vatta, M.1    Mohapatra, B.2    Jimenez, S.3
  • 42
    • 21844463045 scopus 로고    scopus 로고
    • Alpha-myosin heavy chain: A sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy
    • Carniel E, Taylor MR, Sinagra G, et al. Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy. Circulation 2005;112:54-59.
    • (2005) Circulation , vol.112 , pp. 54-59
    • Carniel, E.1    Taylor, M.R.2    Sinagra, G.3
  • 43
    • 12144290256 scopus 로고    scopus 로고
    • ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating
    • Bienengraeber M, Olson TM, Selivanov VA, et al. ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. Nat Genet 2004;36:382-387.
    • (2004) Nat Genet , vol.36 , pp. 382-387
    • Bienengraeber, M.1    Olson, T.M.2    Selivanov, V.A.3
  • 44
    • 9644281144 scopus 로고    scopus 로고
    • Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy
    • Hayashi T, Arimura T, Itoh-Satoh M, et al. Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy. J Am Coll Car-diol 2004;44:2192-2201.
    • (2004) J Am Coll Car-diol , vol.44 , pp. 2192-2201
    • Hayashi, T.1    Arimura, T.2    Itoh-Satoh, M.3
  • 45
    • 0842283230 scopus 로고    scopus 로고
    • Novel mutation in cardiac troponin i in recessive idiopathic dilated cardiomyopathy
    • Murphy RT, Mogensen J, Shaw A, et al. Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy. Lancet 2004; 363:371-372.
    • (2004) Lancet , vol.363 , pp. 371-372
    • Murphy, R.T.1    Mogensen, J.2    Shaw, A.3
  • 46
    • 20144387707 scopus 로고    scopus 로고
    • Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss
    • Schonberger J, Wang L, Shin JT, et al. Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss. Nat Genet 2005;37:418-422.
    • (2005) Nat Genet , vol.37 , pp. 418-422
    • Schonberger, J.1    Wang, L.2    Shin, J.T.3
  • 48
    • 33845217332 scopus 로고    scopus 로고
    • Mutations of presenilin genes in dilated cardiomyopathy and heart failure
    • Li D, Parks SB, Kushner JD, et al. Mutations of presenilin genes in dilated cardiomyopathy and heart failure. Am J Hum Genet 2006;79:1030-1039.
    • (2006) Am J Hum Genet , vol.79 , pp. 1030-1039
    • Li, D.1    Parks, S.B.2    Kushner, J.D.3
  • 49
    • 33344474711 scopus 로고    scopus 로고
    • Alpha B-crystallin mutation in dilated cardiomyopathy
    • Inagaki N, Hayashi T, Arimura T, et al. Alpha B-crystallin mutation in dilated cardiomyopathy. Biochem Biophys Res Commun 2006;342:379-386.
    • (2006) Biochem Biophys Res Commun , vol.342 , pp. 379-386
    • Inagaki, N.1    Hayashi, T.2    Arimura, T.3
  • 50
    • 33947593150 scopus 로고    scopus 로고
    • Mutations in PDLIM3 and MYOZ1 encoding myocyte Z line proteins are infrequently found in idiopathic dilated cardiomyopathy
    • Arola AM, Sanchez X, Murphy RT, et al. Mutations in PDLIM3 and MYOZ1 encoding myocyte Z line proteins are infrequently found in idiopathic dilated cardiomyopathy. Mol Genet Metab 2007;90:435-440.
    • (2007) Mol Genet Metab , vol.90 , pp. 435-440
    • Arola, A.M.1    Sanchez, X.2    Murphy, R.T.3
  • 51
    • 38849132943 scopus 로고    scopus 로고
    • Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy
    • Duboscq-Bidot L, Xu P, Charron P, et al. Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy. Cardiovasc Res 2008;77:118-125.
    • (2008) Cardiovasc Res , vol.77 , pp. 118-125
    • Duboscq-Bidot, L.1    Xu, P.2    Charron, P.3
  • 52
    • 34548407064 scopus 로고    scopus 로고
    • Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in car-diomyocytes and endothelial cells
    • Knoll R, Postel R, Wang J, et al. Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in car-diomyocytes and endothelial cells. Circulation 2007;116:515-525.
    • (2007) Circulation , vol.116 , pp. 515-525
    • Knoll, R.1    Postel, R.2    Wang, J.3
  • 53
    • 69949137801 scopus 로고    scopus 로고
    • Mutations in the ANKRD1 gene encoding CARP are responsible for human dilated cardiomyopathy
    • Duboscq-Bidot L, Charron P, Ruppert V, et al. Mutations in the ANKRD1 gene encoding CARP are responsible for human dilated cardiomyopathy. Eur Heart J 2009;30:2128-2136.
    • (2009) Eur Heart J , vol.30 , pp. 2128-2136
    • Duboscq-Bidot, L.1    Charron, P.2    Ruppert, V.3
  • 54
    • 77957270156 scopus 로고    scopus 로고
    • Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy
    • Li D, Morales A, Gonzalez Quintana J, et al. Identification of novel mutations In RBM20 in patients with dilated cardiomyopathy. Clin Trans Sci 2010;3:90-97.
    • (2010) Clin Trans Sci , vol.3 , pp. 90-97
    • Li, D.1    Morales, A.2    Gonzalez Quintana, J.3
  • 55
    • 68949191192 scopus 로고    scopus 로고
    • Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy
    • Brauch KM, Karst ML, Herron KJ, et al. Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. J Am Coll Cardiol 2009;54:930-941.
    • (2009) J Am Coll Cardiol , vol.54 , pp. 930-941
    • Brauch, K.M.1    Karst, M.L.2    Herron, K.J.3
  • 56
    • 45649083874 scopus 로고    scopus 로고
    • Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy
    • Parks SB, Kushner JD, Nauman D, et al. Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. Am Heart J 2008;156:161-169.
    • (2008) Am Heart J , vol.156 , pp. 161-169
    • Parks, S.B.1    Kushner, J.D.2    Nauman, D.3
  • 57
    • 0033518282 scopus 로고    scopus 로고
    • Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease
    • Fatkin D, MacRae C, Sasaki T, et al. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med 1999;341:1715-1724.
    • (1999) N Engl J Med , vol.341 , pp. 1715-1724
    • Fatkin, D.1    MacRae, C.2    Sasaki, T.3
  • 58
    • 0034620567 scopus 로고    scopus 로고
    • Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement
    • Brodsky G, Muntoni F, Miocic S, et al. Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. Circulation 2000;101:473-476.
    • (2000) Circulation , vol.101 , pp. 473-476
    • Brodsky, G.1    Muntoni, F.2    Miocic, S.3
  • 59
    • 0033636387 scopus 로고    scopus 로고
    • High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation
    • Becane HM, Bonne G, Varnous S, et al. High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation. Pacing Clin Electrophysiol 2000;23:1661-1666.
    • (2000) Pacing Clin Electrophysiol , vol.23 , pp. 1661-1666
    • Becane, H.M.1    Bonne, G.2    Varnous, S.3
  • 60
    • 0034820958 scopus 로고    scopus 로고
    • Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease
    • Jakobs PM, Hanson E, Crispell KA, et al. Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease. J Card Fail 2001;7:249-256.
    • (2001) J Card Fail , vol.7 , pp. 249-256
    • Jakobs, P.M.1    Hanson, E.2    Crispell, K.A.3
  • 61
    • 18344380431 scopus 로고    scopus 로고
    • Autosomal dominant dilated cardiomyopathy with atrioventricular block: A lamin A/C defect-related disease
    • Arbustini E, Pilotto A, Repetto A, et al. Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease. J Am Coll Cardiol 2002;39:981-990.
    • (2002) J Am Coll Cardiol , vol.39 , pp. 981-990
    • Arbustini, E.1    Pilotto, A.2    Repetto, A.3
  • 62
    • 0036911038 scopus 로고    scopus 로고
    • A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantation
    • Hershberger RE, Hanson E, Jakobs PM, et al. A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantation. Am Heart J 2002;144:1081-1086.
    • (2002) Am Heart J , vol.144 , pp. 1081-1086
    • Hershberger, R.E.1    Hanson, E.2    Jakobs, P.M.3
  • 63
    • 0037420074 scopus 로고    scopus 로고
    • Natural history of dilated cardio-myopathy due to lamin A/C gene mutations
    • Taylor MR, Fain PR, Sinagra G, et al. Natural history of dilated cardio-myopathy due to lamin A/C gene mutations. J Am Coll Cardiol 2003;41: 771-780.
    • (2003) J Am Coll Cardiol , vol.41 , pp. 771-780
    • Taylor, M.R.1    Fain, P.R.2    Sinagra, G.3
  • 64
    • 0042327845 scopus 로고    scopus 로고
    • Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations
    • Sebillon P, Bouchier C, Bidot LD, et al. Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations. J Med Genet 2003;40:560-567.
    • (2003) J Med Genet , vol.40 , pp. 560-567
    • Sebillon, P.1    Bouchier, C.2    Bidot, L.D.3
  • 65
  • 66
    • 23744486205 scopus 로고    scopus 로고
    • In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients
    • Sylvius N, Bilinska ZT, Veinot JP, et al. In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients. J Med Genet 2005;42:639-647.
    • (2005) J Med Genet , vol.42 , pp. 639-647
    • Sylvius, N.1    Bilinska, Z.T.2    Veinot, J.P.3
  • 67
    • 14044257791 scopus 로고    scopus 로고
    • LMNA mutations in cardiac transplant recipients
    • Pethig K, Genschel J, Peters T, et al. LMNA mutations in cardiac transplant recipients. Cardiology 2005;103:57-62.
    • (2005) Cardiology , vol.103 , pp. 57-62
    • Pethig, K.1    Genschel, J.2    Peters, T.3
  • 68
    • 33645224459 scopus 로고    scopus 로고
    • Novel mutations in the lamin A/C gene in heart transplant recipients with end stage dilated cardiomyopathy
    • Karkkainen S, Reissell E, Helio T, et al. Novel mutations in the lamin A/C gene in heart transplant recipients with end stage dilated cardiomyopathy. Heart 2006;92:524-526.
    • (2006) Heart , vol.92 , pp. 524-526
    • Karkkainen, S.1    Reissell, E.2    Helio, T.3
  • 69
    • 5644229494 scopus 로고    scopus 로고
    • SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia
    • McNair WP, Ku L, Taylor MR, et al. SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia. Circulation 2004;110:2163-2167.
    • (2004) Circulation , vol.110 , pp. 2163-2167
    • McNair, W.P.1    Ku, L.2    Taylor, M.R.3
  • 70
    • 12544257550 scopus 로고    scopus 로고
    • Sodium channel mutations and susceptibility to heart failure and atrial fibrillation
    • Olson TM, Michels VV, Ballew JD, et al. Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. JAMA 2005;293:447-454.
    • (2005) JAMA , vol.293 , pp. 447-454
    • Olson, T.M.1    Michels, V.V.2    Ballew, J.D.3
  • 71
    • 69549136559 scopus 로고    scopus 로고
    • GeneReviews at GeneTests: Medical Genetics Information Resource (database online) July 10, 2008; initial posting, July 27, 2007. Available at Accessed August 16 2010
    • Hershberger RE, Kushner JK, Parks SP. Dilated cardiomyopathy overview. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online), 2007. July 10, 2008; initial posting, July 27, 2007. Available at: http://www.genetests.org. Accessed August 16, 2010.
    • (2007) Dilated cardiomyopathy overview
    • Hershberger, R.E.1    Kushner, J.K.2    Parks, S.P.3
  • 72
    • 0027193330 scopus 로고
    • X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus
    • Towbin JA, Hejtmancik JF, Brink P, et al. X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus. Circulation 1993;87:1854-1865.
    • (1993) Circulation , vol.87 , pp. 1854-1865
    • Towbin, J.A.1    Hejtmancik, J.F.2    Brink, P.3
  • 73
    • 0027265702 scopus 로고
    • Brief report: Deletion of the dystrophin muscle-promoter region associated with x-linked dilated cardiomyopathy
    • Muntoni F, Cau M, Ganau A, et al. Brief report: deletion of the dystrophin muscle-promoter region associated with x-linked dilated cardiomyopathy. N Engl J Med 1993;329:921-925.
    • (1993) N Engl J Med , vol.329 , pp. 921-925
    • Muntoni, F.1    Cau, M.2    Ganau, A.3
  • 74
    • 16944366521 scopus 로고    scopus 로고
    • The x-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies
    • D'Adamo P, Fassone L, Gedeon A, et al. The x-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. Am J Hum Genet 1997;61:862-867.
    • (1997) Am J Hum Genet , vol.61 , pp. 862-867
    • D'Adamo, P.1    Fassone, L.2    Gedeon, A.3
  • 75
    • 0029963145 scopus 로고    scopus 로고
    • A novel X-linked gene G4.5, is responsible for Barth syndrome
    • Bione S, D'Adamo P, Maestrini E, et al. A novel X-linked gene, G4.5, is responsible for Barth syndrome. Nat Genet 1996;12:385-389.
    • (1996) Nat Genet , vol.12 , pp. 385-389
    • Bione, S.1    D'Adamo, P.2    Maestrini, E.3
  • 76
    • 0024422923 scopus 로고
    • Epidemiology of idiopathic dilated and hypertrophic cardiomyopathy: A population-based study in Olmsted, County, Minnesota 1975-1984
    • Codd MB, Sugrue DD, Gersh BJ, Melton LJ. Epidemiology of idiopathic dilated and hypertrophic cardiomyopathy: a population-based study in Olmsted, County, Minnesota, 1975-1984. Circulation 1989;80:564-572.
    • (1989) Circulation , vol.80 , pp. 564-572
    • Codd, M.B.1    Sugrue, D.D.2    Gersh, B.J.3    Melton, L.J.4
  • 77
    • 0029083650 scopus 로고
    • Prevalence of hypertrophic cardio-myopathy 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, et al. Prevalence of hypertrophic cardio-myopathy 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
  • 78
    • 0019165493 scopus 로고
    • Echocardiographic measurements in normal subjects from infancy to old age
    • Henry W, Gardin J, Ware J. Echocardiographic measurements in normal subjects from infancy to old age. Circulation 1980;62:1054-1061.
    • (1980) Circulation , vol.62 , pp. 1054-1061
    • Henry, W.1    Gardin, J.2    Ware, J.3
  • 79
    • 0030768395 scopus 로고    scopus 로고
    • Distribution and categorization of echocardiographic measurements in relation to reference limits. The Framingham Heart Study: Formulation of a height-and sex-specific classification and its prospective validation
    • Vasan R, Larson M, Levy D, Evans J, Benjamin E. Distribution and categorization of echocardiographic measurements in relation to reference limits. The Framingham Heart Study: formulation of a height-and sex-specific classification and its prospective validation. Circulation 1997;96:1863-1873.
    • (1997) Circulation , vol.96 , pp. 1863-1873
    • Vasan, R.1    Larson, M.2    Levy, D.3    Evans, J.4    Benjamin, E.5
  • 80
    • 0032883646 scopus 로고    scopus 로고
    • Familial dilated cardiomyopathy: Echocardiographic diagnostic criteria for classification of family members as affected
    • Hershberger RE, Ni H, Crispell KA. Familial dilated cardiomyopathy: echocardiographic diagnostic criteria for classification of family members as affected. J Card Fail 1999;51:203-212.
    • (1999) J Card Fail , vol.51 , pp. 203-212
    • Hershberger, R.E.1    Ni, H.2    Crispell, K.A.3
  • 81
    • 33750143766 scopus 로고    scopus 로고
    • Clinical characteristics of 304 kindreds evaluated for familial dilated cardiomyopathy
    • Kushner JD, Nauman D, Burgess D, et al. Clinical characteristics of 304 kindreds evaluated for familial dilated cardiomyopathy. J Card Fail 2006;12:422-429.
    • (2006) J Card Fail , vol.12 , pp. 422-429
    • Kushner, J.D.1    Nauman, D.2    Burgess, D.3
  • 82
    • 0031885093 scopus 로고    scopus 로고
    • Familial dilated cardiomyopa-thy: Cardiac abnormalities are common in asymptomatic relatives and may represent early disease
    • Baig MK, Goldman JH, Caforio AP, et al. Familial dilated cardiomyopa-thy: cardiac abnormalities are common in asymptomatic relatives and may represent early disease. J Am Coll Cardiol 1998;31:195-201.
    • (1998) J Am Coll Cardiol , vol.31 , pp. 195-201
    • Baig, M.K.1    Goldman, J.H.2    Caforio, A.P.3
  • 83
    • 54049149859 scopus 로고    scopus 로고
    • Cardiac magnetic resonance imaging of myocardial contrast uptake and blood flow in patients affected with idiopathic or familial dilated cardiomyopathy
    • Jerosch-Herold M, Sheridan DC, Kushner JD, et al. Cardiac magnetic resonance imaging of myocardial contrast uptake and blood flow in patients affected with idiopathic or familial dilated cardiomyopathy. Am J Physiol Heart Circ Physiol 2008;295:H1234-H1242.
    • (2008) Am J Physiol Heart Circ Physiol , vol.295
    • Jerosch-Herold, M.1    Sheridan, D.C.2    Kushner, J.D.3
  • 84
    • 0001677549 scopus 로고    scopus 로고
    • Genetic counseling and screening issues in familial dilated cardiomyopathy
    • Hanson E, Hershberger RE. Genetic counseling and screening issues in familial dilated cardiomyopathy. J Genet Counseling 2001;10:397-415.
    • (2001) J Genet Counseling , vol.10 , pp. 397-415
    • Hanson, E.1    Hershberger, R.E.2
  • 85
    • 84869350842 scopus 로고    scopus 로고
    • GeneReviews at GeneTests GeneTests/GeneClinics [cited 2008 September 12, 2009]. Available at Accessed August 16 2010
    • GeneReviews at GeneTests. Medical Genetics Information Resource. GeneTests/GeneClinics [cited 2008 September 12, 2009]. Available at: http://www.genetests.org. Accessed August 16 2010.
    • Medical Genetics Information Resource
  • 86
    • 77953024460 scopus 로고    scopus 로고
    • Rare variant mutations in pregnancy-associated or peripartum cardiomyopathy
    • Morales A, Painter T, Li R, et al. Rare variant mutations in pregnancy-associated or peripartum cardiomyopathy. Circulation 2010;121:2176-2182.
    • (2010) Circulation , vol.121 , pp. 2176-2182
    • Morales, A.1    Painter, T.2    Li, R.3
  • 87
    • 17744399933 scopus 로고    scopus 로고
    • Pregnancy-associated cardiomy-opathy: Clinical characteristics and a comparison between early and late presentation
    • Elkayam U, Akhter MW, Singh H, et al. Pregnancy-associated cardiomy-opathy: clinical characteristics and a comparison between early and late presentation. Circulation 2005;111:2050-2055.
    • (2005) Circulation , vol.111 , pp. 2050-2055
    • Elkayam, U.1    Akhter, M.W.2    Singh, H.3
  • 88
    • 0015180736 scopus 로고
    • Natural course of peripar-tum cardiomyopathy
    • Demakis JG, Rahimtoola SH, Sutton GC, et al. Natural course of peripar-tum cardiomyopathy. Circulation 1971;44:1053-1061.
    • (1971) Circulation , vol.44 , pp. 1053-1061
    • Demakis, J.G.1    Rahimtoola, S.H.2    Sutton, G.C.3
  • 89
    • 78649629473 scopus 로고    scopus 로고
    • LMNA-related dilated cardiomyopathy
    • Available at Accessed August 16 2010
    • Hershberger RE, Cowan J, Morales A. LMNA-related dilated cardiomyopathy. GeneTests/GeneClinics 2008, 2008. Available at: http://www.genetests.org. Accessed August 16, 2010.
    • (2008) GeneTests/GeneClinics 2008
    • Hershberger, R.E.1    Cowan, J.2    Morales, A.3
  • 90
    • 0029962873 scopus 로고    scopus 로고
    • Maternally inherited cardio-myopathy and hearing loss associated with a novel mutation in the mitochon-drial tRNA(Lys) gene (G8363A)
    • Santorelli FM, Mak SC, El-Schahawi M, et al. Maternally inherited cardio-myopathy and hearing loss associated with a novel mutation in the mitochon-drial tRNA(Lys) gene (G8363A). Am J Hum Genet 1996;58:933-939.
    • (1996) Am J Hum Genet , vol.58 , pp. 933-939
    • Santorelli, F.M.1    Mak, S.C.2    El-Schahawi, M.3
  • 91
    • 0031257633 scopus 로고    scopus 로고
    • Point mutations in mito-chondrial DNA of patients with dilated cardiomyopathy
    • Li YY, Maisch B, Rose ML, Hengstenberg C. Point mutations in mito-chondrial DNA of patients with dilated cardiomyopathy. J Mol Cell Car-diol 1997;29:2699-2709.
    • (1997) J Mol Cell Car-diol , vol.29 , pp. 2699-2709
    • Li, Y.Y.1    Maisch, B.2    Rose, M.L.3    Hengstenberg, C.4
  • 92
    • 18244413442 scopus 로고    scopus 로고
    • Mitochondrial DNA mutations and mitochondrial abnormalities in dilated cardiomyopathy
    • Arbustini E, Diegoli M, Fasani R, et al. Mitochondrial DNA mutations and mitochondrial abnormalities in dilated cardiomyopathy. Am J Pathol 1998; 153:1501-1510.
    • (1998) Am J Pathol , vol.153 , pp. 1501-1510
    • Arbustini, E.1    Diegoli, M.2    Fasani, R.3
  • 93
    • 0033366515 scopus 로고    scopus 로고
    • Maternally inherited cardiomyop-athy: An atypical presentation of the mtDNA 12S rRNA gene A1555G mutation
    • Santorelli FM, Tanji K, Manta P, et al. Maternally inherited cardiomyop-athy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation. Am J Hum Genet 1999;64:295-300.
    • (1999) Am J Hum Genet , vol.64 , pp. 295-300
    • Santorelli, F.M.1    Tanji, K.2    Manta, P.3
  • 94
    • 0034519248 scopus 로고    scopus 로고
    • The complete sequence of mtDNA genes in idiopathic dilated cardiomyopathy shows novel missense and tRNA mutations
    • Marin-Garcia J, Goldenthal MJ, Ananthakrishnan R, Pierpont ME. The complete sequence of mtDNA genes in idiopathic dilated cardiomyopathy shows novel missense and tRNA mutations. J Card Fail 2000;6:321-329.
    • (2000) J Card Fail , vol.6 , pp. 321-329
    • Marin-Garcia, J.1    Goldenthal, M.J.2    Ananthakrishnan, R.3    Pierpont, M.E.4
  • 95
    • 36649033365 scopus 로고    scopus 로고
    • A novel mitochondrial DNA tRNAIle (m. 4322dupC) mutation associated with idiopathic dilated car-diomyopathy
    • Mahjoub S, Sternberg D, Boussaada R, et al. A novel mitochondrial DNA tRNAIle (m. 4322dupC) mutation associated with idiopathic dilated car-diomyopathy. Diagn Mol Pathol 2007;16:238-242.
    • (2007) Diagn Mol Pathol , vol.16 , pp. 238-242
    • Mahjoub, S.1    Sternberg, D.2    Boussaada, R.3
  • 96
    • 0026319459 scopus 로고
    • The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyop-athy
    • Michels VV, Moll PP, Miller FA, et al. The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyop-athy. N Engl J Med 1992;326:77-82.
    • (1992) N Engl J Med , vol.326 , pp. 77-82
    • Michels, V.V.1    Moll, P.P.2    Miller, F.A.3
  • 97
    • 0030871639 scopus 로고    scopus 로고
    • Idiopathic dilated cardiomy-opathy: Familial prevalence and HLA distribution
    • McKenna C, Codd M, McCann H, Sugrue D. Idiopathic dilated cardiomy-opathy: familial prevalence and HLA distribution. Heart 1997;77:549-552.
    • (1997) Heart , vol.77 , pp. 549-552
    • McKenna, C.1    Codd, M.2    McCann, H.3    Sugrue, D.4
  • 98
    • 0031951537 scopus 로고    scopus 로고
    • Frequency and phenotypes of familial dilated cardiomyopathy
    • Grünig E, Tasman JA, Kücherer H, et al. Frequency and phenotypes of familial dilated cardiomyopathy. J Am Coll Cardiol 1998;31:186-194.
    • (1998) J Am Coll Cardiol , vol.31 , pp. 186-194
    • Grünig, E.1    Tasman, J.A.2    Kücherer, H.3
  • 99
    • 0033165780 scopus 로고    scopus 로고
    • Familial dilated cardiomyopathy: Evidence for genetic and phenotypic heterogeneity. Heart Muscle Disease Study Group
    • Mestroni L, Rocco C, Gregori D, et al. Familial dilated cardiomyopathy: evidence for genetic and phenotypic heterogeneity. Heart Muscle Disease Study Group. J Am Coll Cardiol 1999;34:181-190.
    • (1999) J Am Coll Cardiol , vol.34 , pp. 181-190
    • Mestroni, L.1    Rocco, C.2    Gregori, D.3
  • 100
    • 43049102099 scopus 로고    scopus 로고
    • Family history: An essential tool for cardiovascular genetic medicine
    • Morales A, Cowan J, Dagua J, Hershberger RE. Family history: an essential tool for cardiovascular genetic medicine. Congest Heart Fail 2008;14:37-45.
    • (2008) Congest Heart Fail , vol.14 , pp. 37-45
    • Morales, A.1    Cowan, J.2    Dagua, J.3    Hershberger, R.E.4
  • 101
    • 21744454486 scopus 로고    scopus 로고
    • Familial dilated cardiomyopathy
    • Hershberger R. Familial dilated cardiomyopathy. Prog Pediatr Cardiol 2005;20:161-168.
    • (2005) Prog Pediatr Cardiol , vol.20 , pp. 161-168
    • Hershberger, R.1
  • 102
    • 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
  • 104
    • 35548997132 scopus 로고    scopus 로고
    • Role of genetic analysis in the management of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy
    • Sen-Chowdhry S, Syrris P, McKenna WJ. Role of genetic analysis in the management of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Am Coll Cardiol 2007;50:1813-1821.
    • (2007) J Am Coll Cardiol , vol.50 , pp. 1813-1821
    • Sen-Chowdhry, S.1    Syrris, P.2    McKenna, W.J.3
  • 106
    • 57449085722 scopus 로고    scopus 로고
    • Left-dominant arrhythmogenic cardiomyopathy: An under-recognized clinical entity
    • Sen-Chowdhry S, Syrris P, Prasad SK, et al. Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity. J Am Coll Cardiol 2008;52:2175-2187.
    • (2008) J Am Coll Cardiol , vol.52 , pp. 2175-2187
    • Sen-Chowdhry, S.1    Syrris, P.2    Prasad, S.K.3
  • 108
    • 77449104814 scopus 로고    scopus 로고
    • Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomy-opathy
    • Hershberger R, Pinto J, Parks S, et al. Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomy-opathy. Circ Cardiovasc Genet 2009;2:306-313.
    • (2009) Circ Cardiovasc Genet , vol.2 , pp. 306-313
    • Hershberger, R.1    Pinto, J.2    Parks, S.3
  • 109
    • 77952754040 scopus 로고    scopus 로고
    • Genetic and ultrastructural studies in dilated cardiomyopathy patients: A large deletion in the lamin A/C gene is associated with cardiomyocyte nuclear envelope disruption
    • Gupta P, Bilinska ZT, Sylvius N, et al. Genetic and ultrastructural studies in dilated cardiomyopathy patients: a large deletion in the lamin A/C gene is associated with cardiomyocyte nuclear envelope disruption. Basic Res Cardiol 2010;105:365-377.
    • (2010) Basic Res Cardiol , vol.105 , pp. 365-377
    • Gupta, P.1    Bilinska, Z.T.2    Sylvius, N.3
  • 111
    • 0033933967 scopus 로고    scopus 로고
    • The "final common pathway" hypothesis and inherited cardiovascular disease. The role of cytoskeletal proteins in dilated cardiomyopathy
    • Bowles NE, Bowles KR, Towbin JA. The "final common pathway" hypothesis and inherited cardiovascular disease. The role of cytoskeletal proteins in dilated cardiomyopathy. Herz 2000;25:168-175.
    • (2000) Herz , vol.25 , pp. 168-175
    • Bowles, N.E.1    Bowles, K.R.2    Towbin, J.A.3
  • 112
    • 85047692354 scopus 로고    scopus 로고
    • How do mutations in lamins A and C cause disease?
    • Worman HJ, Courvalin JC. How do mutations in lamins A and C cause disease? J Clin Invest 2004;113:349-351.
    • (2004) J Clin Invest , vol.113 , pp. 349-351
    • Worman, H.J.1    Courvalin, J.C.2
  • 113
    • 53949106057 scopus 로고    scopus 로고
    • Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology
    • Menon S, Michels V, Pellikka P, et al. Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology. Clin Genet 2008;74:445-454.
    • (2008) Clin Genet , vol.74 , pp. 445-454
    • Menon, S.1    Michels, V.2    Pellikka, P.3
  • 114
    • 28744446343 scopus 로고    scopus 로고
    • ACC/AHA 2005 Guideline Update for the Diagnosis and Management of Chronic Heart Failure in the Adult: A report of the American College of Cardiology
    • American Heart Association Task Force on Practice Guidelines (Writing Committee to Update the 2001 Guidelines for the Evaluation and Management of Heart Failure): developed in collaboration with the American College of Chest Physicians and the International Society for Heart and Lung Transplantation: endorsed by the Heart Rhythm Society
    • Hunt SA, Abraham WT, Chin MH, et al. ACC/AHA 2005 Guideline Update for the Diagnosis and Management of Chronic Heart Failure in the Adult: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Update the 2001 Guidelines for the Evaluation and Management of Heart Failure): developed in collaboration with the American College of Chest Physicians and the International Society for Heart and Lung Transplantation: endorsed by the Heart Rhythm Society. Circulation 2005;112:e154-e235.
    • (2005) Circulation , vol.112
    • Hunt, S.A.1    Abraham, W.T.2    Chin, M.H.3
  • 115
    • 63849177462 scopus 로고    scopus 로고
    • 2009 Focused update incorporated into the ACC/AHA 2005 Guidelines for the Diagnosis and Management of Heart Failure in Adults
    • A Report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines Developed in Collaboration With the International Society for Heart and Lung Transplantation
    • Hunt SA, Abraham WT, Chin MH, et al. 2009 Focused update incorporated into the ACC/AHA 2005 Guidelines for the Diagnosis and Management of Heart Failure in Adults. A Report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines Developed in Collaboration With the International Society for Heart and Lung Transplantation. J Am Coll Cardiol 2009;53:e1-e90.
    • (2009) J Am Coll Cardiol , vol.53
    • Hunt, S.A.1    Abraham, W.T.2    Chin, M.H.3
  • 116
    • 33144483487 scopus 로고    scopus 로고
    • Executive summary: HFSA 2006 Comprehensive Heart Failure Practice Guideline
    • Heart Failure Society Of America.
    • Heart Failure Society Of America. Executive summary: HFSA 2006 Comprehensive Heart Failure Practice Guideline. J Card Fail 2006;12:10-38.
    • (2006) J Card Fail , vol.12 , pp. 10-38
  • 117
    • 0026785561 scopus 로고
    • Effect of enalapril on mortality and the development of heart failure in asymptomatic patients with reduced left ventricular ejection fractions
    • The SOLVD Investigators
    • The SOLVD Investigators. Effect of enalapril on mortality and the development of heart failure in asymptomatic patients with reduced left ventricular ejection fractions. N Engl J Med 1992;327:685-691.
    • (1992) N Engl J Med , vol.327 , pp. 685-691
  • 118
    • 34247124771 scopus 로고    scopus 로고
    • Genetics of dilated cardiomyopathy
    • Karkkainen S, Peuhkurinen K. Genetics of dilated cardiomyopathy. Ann Med 2007;39:91-107.
    • (2007) Ann Med , vol.39 , pp. 91-107
    • Karkkainen, S.1    Peuhkurinen, K.2
  • 119
    • 77951915607 scopus 로고    scopus 로고
    • Common susceptibility variants examined for association with dilated cardiomyopathy
    • Rampersaud E, Kinnamon D, Hamilton K, et al. Common susceptibility variants examined for association with dilated cardiomyopathy. Ann Hum Genet 2010;74:110-116.
    • (2010) Ann Hum Genet , vol.74 , pp. 110-116
    • Rampersaud, E.1    Kinnamon, D.2    Hamilton, K.3
  • 120
    • 0036787307 scopus 로고    scopus 로고
    • Beyond Mendel: An evolving view of human genetic disease transmission
    • Badano JL, Katsanis N. Beyond Mendel: an evolving view of human genetic disease transmission. Nat Rev Genet 2002;3:779-789.
    • (2002) Nat Rev Genet , vol.3 , pp. 779-789
    • Badano, J.L.1    Katsanis, N.2
  • 121
    • 44349132708 scopus 로고    scopus 로고
    • Common and rare variants in multifactorial susceptibility to common diseases
    • Bodmer W, Bonilla C. Common and rare variants in multifactorial susceptibility to common diseases. Nat Genet 2008;40:695-701.
    • (2008) Nat Genet , vol.40 , pp. 695-701
    • Bodmer, W.1    Bonilla, C.2
  • 122
    • 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, et al. 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
    • Ingles, J.1    Doolan, A.2    Chiu, C.3
  • 123
    • 77949881591 scopus 로고    scopus 로고
    • Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations
    • Girolami F, Ho CY, Semsarian C, et al. Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations. J Am Coll Cardiol 2010;55:1444-1453.
    • (2010) J Am Coll Cardiol , vol.55 , pp. 1444-1453
    • Girolami, F.1    Ho, C.Y.2    Semsarian, C.3
  • 124
    • 0242635451 scopus 로고    scopus 로고
    • How really rare are rare diseases?: The intriguing case of independent compound mutations in the long QT syndrome
    • Schwartz PJ, Priori SG, Napolitano C. How really rare are rare diseases?: the intriguing case of independent compound mutations in the long QT syndrome. J Cardiovasc Electrophysiol 2003;14:1120-1121.
    • (2003) J Cardiovasc Electrophysiol , vol.14 , pp. 1120-1121
    • Schwartz, P.J.1    Priori, S.G.2    Napolitano, C.3
  • 126
    • 34247280500 scopus 로고    scopus 로고
    • Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia/cardio-myopathy provides novel insights into patterns of disease expression
    • Sen-Chowdhry S, Syrris P, Ward D, et al. Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia/cardio-myopathy provides novel insights into patterns of disease expression. Circulation 2007;115:1710-1720.
    • (2007) Circulation , vol.115 , pp. 1710-1720
    • Sen-Chowdhry, S.1    Syrris, P.2    Ward, D.3
  • 127
    • 34147116715 scopus 로고    scopus 로고
    • Most rare missense alleles are deleterious in humans: Implications for complex disease and association studies
    • Kryukov GV, Pennacchio LA, Sunyaev SR. Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. Am J Hum Genet 2007;80:727-739.
    • (2007) Am J Hum Genet , vol.80 , pp. 727-739
    • Kryukov, G.V.1    Pennacchio, L.A.2    Sunyaev, S.R.3
  • 129
    • 70249111091 scopus 로고    scopus 로고
    • Targeted capture and massively parallel sequencing of 12 human exomes
    • Ng SB, Turner EH, Robertson PD, et al. Targeted capture and massively parallel sequencing of 12 human exomes. Nature 2009;461:272-276.
    • (2009) Nature , vol.461 , pp. 272-276
    • Ng, S.B.1    Turner, E.H.2    Robertson, P.D.3
  • 130
    • 73349110071 scopus 로고    scopus 로고
    • Exome sequencing identifies the cause of a mendelian disorder
    • Ng SB, Buckingham KJ, Lee C, et al. Exome sequencing identifies the cause of a mendelian disorder. Nat Genet 2010;42:30-35.
    • (2010) Nat Genet , vol.42 , pp. 30-35
    • Ng, S.B.1    Buckingham, K.J.2    Lee, C.3
  • 131
    • 77952509742 scopus 로고    scopus 로고
    • Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy
    • Cowan J, Li D, Gonzalez Quintana J, Morales A, Hershberger RE. Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. Circ Cardiovasc Genet 2010;3:6-14.
    • (2010) Circ Cardiovasc Genet , vol.3 , pp. 6-14
    • Cowan, J.1    Li, D.2    Gonzalez Quintana, J.3    Morales, A.4    Hershberger, R.E.5


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