메뉴 건너뛰기




Volumn 37, Issue 1-2, 2014, Pages 13-18

Genetic causes of dilated cardiomyopathy

Author keywords

Dilated cardiomyopathy; Gene; Heart failure; Pediatrics; Prognosis; Screening

Indexed keywords


EID: 84914158824     PISSN: 10589813     EISSN: 15581519     Source Type: Journal    
DOI: 10.1016/j.ppedcard.2014.10.003     Document Type: Review
Times cited : (78)

References (80)
  • 1
    • 0032934453 scopus 로고    scopus 로고
    • Guidelines for the study of familial dilated cardiomyopathies. Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy
    • Mestroni L., Maisch B., McKenna W.J., et al. Guidelines for the study of familial dilated cardiomyopathies. Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy. Eur Heart J 1999, 20(2):93-102.
    • (1999) Eur Heart J , vol.20 , Issue.2 , pp. 93-102
    • Mestroni, L.1    Maisch, B.2    McKenna, W.J.3
  • 2
    • 84883163817 scopus 로고    scopus 로고
    • Dilated cardiomyopathy: the complexity of a diverse genetic architecture
    • Hershberger R.E., Hedges D.J., Morales A. Dilated cardiomyopathy: the complexity of a diverse genetic architecture. Nat Rev Cardiol 2013, 10(9):531-547.
    • (2013) Nat Rev Cardiol , vol.10 , Issue.9 , pp. 531-547
    • Hershberger, R.E.1    Hedges, D.J.2    Morales, A.3
  • 3
    • 0026736301 scopus 로고
    • The clinical course of idiopathic dilated cardiomyopathy. A population-based study
    • Sugrue D.D., Rodeheffer R.J., Codd M.B., et al. The clinical course of idiopathic dilated cardiomyopathy. A population-based study. Ann Intern Med 1992, 117(2):117-123.
    • (1992) Ann Intern Med , vol.117 , Issue.2 , pp. 117-123
    • Sugrue, D.D.1    Rodeheffer, R.J.2    Codd, M.B.3
  • 4
    • 33750121615 scopus 로고    scopus 로고
    • Incidence, causes, and outcomes of dilated cardiomyopathy in children
    • Towbin J.A., Lowe A.M., Colan S.D., et al. Incidence, causes, and outcomes of dilated cardiomyopathy in children. JAMA 2006, 296:1867-1876.
    • (2006) JAMA , vol.296 , pp. 1867-1876
    • Towbin, J.A.1    Lowe, A.M.2    Colan, S.D.3
  • 5
    • 0024422923 scopus 로고
    • Epidemiology of idiopathic dilated and hypertrophic cardiomyopathy. A population-based study in Olmsted County, Minnesota, 1975-1984
    • Codd M.B., Sugrue D.D., Gersh B.J., Melton L.J. 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
  • 6
    • 0031044196 scopus 로고    scopus 로고
    • Epidemiology of dilated cardiomyopathy. A prospective post-mortem study of 5252 necropsies
    • Rakar S., Sinagra G., Di Lenarda A., et al. Epidemiology of dilated cardiomyopathy. A prospective post-mortem study of 5252 necropsies. Eur Heart J 1997, 18:117-123.
    • (1997) Eur Heart J , vol.18 , pp. 117-123
    • Rakar, S.1    Sinagra, G.2    Di Lenarda, A.3
  • 7
    • 0037464530 scopus 로고    scopus 로고
    • The epidemiology of childhood cardiomyopathy in Australia
    • Nugent A.W., Daubeney P.E., Chondros P., et al. The epidemiology of childhood cardiomyopathy in Australia. N Engl J Med 2003, 348:1639-1646.
    • (2003) N Engl J Med , vol.348 , pp. 1639-1646
    • Nugent, A.W.1    Daubeney, P.E.2    Chondros, P.3
  • 8
    • 0345636017 scopus 로고    scopus 로고
    • The incidence of pediatric cardiomyopathy in two regions of the United States
    • Lipschultz S.E., Sleeper L.A., Towbin J.A., et al. The incidence of pediatric cardiomyopathy in two regions of the United States. N Engl J Med 2003, 348:1647-1655.
    • (2003) N Engl J Med , vol.348 , pp. 1647-1655
    • Lipschultz, S.E.1    Sleeper, L.A.2    Towbin, J.A.3
  • 9
    • 35348824321 scopus 로고    scopus 로고
    • Diagnostic approaches to pediatric cardiomyopathy of metabolic genetic etiologies and their relation to therapy
    • Cox G.F. Diagnostic approaches to pediatric cardiomyopathy of metabolic genetic etiologies and their relation to therapy. Prog Pediatr Cardiol 2007, 24(1):15-25.
    • (2007) Prog Pediatr Cardiol , vol.24 , Issue.1 , pp. 15-25
    • Cox, G.F.1
  • 10
    • 0032938962 scopus 로고    scopus 로고
    • Excellent long-term functional outcome after an operation for anomalous left coronary artery from the pulmonary artery
    • Cochrane A.D., Coleman D.M., Davis A.M., et al. Excellent long-term functional outcome after an operation for anomalous left coronary artery from the pulmonary artery. J Thorac Cardiovasc Surg 1999, 117:332-342.
    • (1999) J Thorac Cardiovasc Surg , vol.117 , pp. 332-342
    • Cochrane, A.D.1    Coleman, D.M.2    Davis, A.M.3
  • 11
    • 65349140154 scopus 로고    scopus 로고
    • Tachycardia-mediated cardiomyopathy secondary to focal atrial tachycardia
    • Medi C., Kalman J., Haqqani H., et al. Tachycardia-mediated cardiomyopathy secondary to focal atrial tachycardia. J Am Coll Cardiol 2009, 53:1791-1797.
    • (2009) J Am Coll Cardiol , vol.53 , pp. 1791-1797
    • Medi, C.1    Kalman, J.2    Haqqani, H.3
  • 12
    • 42549115771 scopus 로고    scopus 로고
    • Hypocalcemia and vitamin D deficiency: an important, but preventable cause of life-threatening infant heart failure
    • Maiya S., Sullivan I., Allgrove J., et al. Hypocalcemia and vitamin D deficiency: an important, but preventable cause of life-threatening infant heart failure. Heart 2008, 94:581-584.
    • (2008) Heart , vol.94 , pp. 581-584
    • Maiya, S.1    Sullivan, I.2    Allgrove, J.3
  • 13
    • 0019165493 scopus 로고
    • Echocardiographic measurements in normal subjects from infancy to old age
    • Henry W.L., Gardin J.M., Ware J.H. Echocardiographic measurements in normal subjects from infancy to old age. Circulation 1980, 62:1054-1061.
    • (1980) Circulation , vol.62 , pp. 1054-1061
    • Henry, W.L.1    Gardin, J.M.2    Ware, J.H.3
  • 14
    • 0033165780 scopus 로고    scopus 로고
    • Familial dilated cardiomyopathy: evidence for genetic and phenotypic heterogeneity
    • Mestroni L., Rocco C., Gregori D., et al. Familial dilated cardiomyopathy: evidence for genetic and phenotypic heterogeneity. 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
  • 15
    • 78649631986 scopus 로고    scopus 로고
    • Clinical and genetic issues in dilated cardiomyopathy: a review for genetics professionals
    • Hershberger R.E., Morales A., Siegfried J.D. Clinical and genetic issues in dilated cardiomyopathy: a review for genetics professionals. Genet Med 2010, 12:655-667.
    • (2010) Genet Med , vol.12 , pp. 655-667
    • Hershberger, R.E.1    Morales, A.2    Siegfried, J.D.3
  • 16
    • 0033933967 scopus 로고    scopus 로고
    • The "Final Common Pathway" hypothesis and inherited cardiovascular disease. The role of cytoskeletal proteins in dilated cardiomyopathy
    • Bowles N.E., Bowles K.R., Towbin J.A. 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
  • 17
    • 79956088515 scopus 로고    scopus 로고
    • Arrhythmias and dilated cardiomyopathy common pathogenetic pathways?
    • Towbin J.A., Lorts A. Arrhythmias and dilated cardiomyopathy common pathogenetic pathways?. J Am Coll Cardiol 2011, 57:2169-2171.
    • (2011) J Am Coll Cardiol , vol.57 , pp. 2169-2171
    • Towbin, J.A.1    Lorts, A.2
  • 18
    • 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
    • Maron B.J., Towbin J.A., Thiene G., 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, 113:1807-1813.
    • (2006) Circulation , vol.113 , pp. 1807-1813
    • Maron, B.J.1    Towbin, J.A.2    Thiene, G.3
  • 19
    • 0034619996 scopus 로고    scopus 로고
    • Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy
    • Kamisago M., Sharma S.D., DePalma S.R., 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
  • 20
    • 84859218872 scopus 로고    scopus 로고
    • Genetic testing for dilated cardiomyopathy in clinical practice
    • Lakdawala N.K., Funke B.H., Baxter S., et al. Genetic testing for dilated cardiomyopathy in clinical practice. J Cardiac Fail 2012, 18:296-303.
    • (2012) J Cardiac Fail , vol.18 , pp. 296-303
    • Lakdawala, N.K.1    Funke, B.H.2    Baxter, S.3
  • 22
    • 84868626402 scopus 로고    scopus 로고
    • Subtle abnormalities in contractile function are an early manifestation of sarcomere mutations in dilated cardiomyopathy
    • Lakdawala N.K., Thune J.J., Colan S.D., et al. Subtle abnormalities in contractile function are an early manifestation of sarcomere mutations in dilated cardiomyopathy. Circ Cardiovasc Genet 2012, 5:503-510.
    • (2012) Circ Cardiovasc Genet , vol.5 , pp. 503-510
    • Lakdawala, N.K.1    Thune, J.J.2    Colan, S.D.3
  • 23
    • 67650239904 scopus 로고    scopus 로고
    • Phenotypic heterogeneity of sarcomeric gene mutations: a matter of gain and loss?
    • Mestroni L. Phenotypic heterogeneity of sarcomeric gene mutations: a matter of gain and loss?. J Am Coll Cardiol 2009, 21(54):343-345.
    • (2009) J Am Coll Cardiol , vol.21 , Issue.54 , pp. 343-345
    • Mestroni, L.1
  • 24
    • 21844463045 scopus 로고    scopus 로고
    • α-Myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy
    • Carniel E., Taylor M.R., Sinagra G., et al. α-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
  • 25
    • 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
  • 26
    • 0029812703 scopus 로고    scopus 로고
    • Alteration of myosin cross bridges by phosphorylation of myosin-binding-protein C in cardiac muscle
    • Weisberg A., Winegrad S. Alteration of myosin cross bridges by phosphorylation of myosin-binding-protein C in cardiac muscle. Proc Natl Acad Sci U S A 1996, 93:8999-9003.
    • (1996) Proc Natl Acad Sci U S A , vol.93 , pp. 8999-9003
    • Weisberg, A.1    Winegrad, S.2
  • 27
    • 30944435503 scopus 로고    scopus 로고
    • Sarcomeric protein mutations in dilated cardiomyopathy
    • Chang A.N., Potter J.D. Sarcomeric protein mutations in dilated cardiomyopathy. Heart Fail Rev 2005, 10:225-235.
    • (2005) Heart Fail Rev , vol.10 , pp. 225-235
    • Chang, A.N.1    Potter, J.D.2
  • 28
    • 84863116641 scopus 로고    scopus 로고
    • Truncations of titin causing dilated cardiomyopathy
    • Herman D.S., Lam L., Taylor M.R., et al. Truncations of titin causing dilated cardiomyopathy. N Engl J Med 2012, 366:619-628.
    • (2012) N Engl J Med , vol.366 , pp. 619-628
    • Herman, D.S.1    Lam, L.2    Taylor, M.R.3
  • 29
    • 84858255789 scopus 로고    scopus 로고
    • Genetics: broken giant linked to heart failure
    • McNally E.M. Genetics: broken giant linked to heart failure. Nature 2012, 483(7389):281-282.
    • (2012) Nature , vol.483 , Issue.7389 , pp. 281-282
    • McNally, E.M.1
  • 30
    • 84890228387 scopus 로고    scopus 로고
    • Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy
    • Merlo M., Sinagra G., Carniel E., et al. Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy. Clin Transl Sci 2013, 6:424-428.
    • (2013) Clin Transl Sci , vol.6 , pp. 424-428
    • Merlo, M.1    Sinagra, G.2    Carniel, E.3
  • 31
    • 33748175926 scopus 로고    scopus 로고
    • Lamin A/C and cardiac disease
    • Sylvius N., Tesson F. Lamin A/C and cardiac disease. Curr Opin Cardiol 2006, 21:159-165.
    • (2006) Curr Opin Cardiol , vol.21 , pp. 159-165
    • Sylvius, N.1    Tesson, F.2
  • 32
    • 0037420074 scopus 로고    scopus 로고
    • Natural history of dilated cardiomyopathy due to lamin A/C gene mutations
    • Taylor M.R., Fain P.R., Sinagra G., et al. Natural history of dilated cardiomyopathy 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
  • 33
    • 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
  • 34
    • 84856194138 scopus 로고    scopus 로고
    • Risk factors for malignant ventricular arrhythmias in lamin A/C mutation carriers
    • van Rijsingen I.A., Arbustini E., Elliott P.M., et al. Risk factors for malignant ventricular arrhythmias in lamin A/C mutation carriers. J Am Coll Cardiol 2012, 59:493-500.
    • (2012) J Am Coll Cardiol , vol.59 , pp. 493-500
    • van Rijsingen, I.A.1    Arbustini, E.2    Elliott, P.M.3
  • 35
    • 28844466695 scopus 로고    scopus 로고
    • Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy
    • Taylor M.R., Slavov D., Gajewski A., et al. Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy. Hum Mutat 2005, 26:566-574.
    • (2005) Hum Mutat , vol.26 , pp. 566-574
    • Taylor, M.R.1    Slavov, D.2    Gajewski, A.3
  • 36
    • 5644229494 scopus 로고    scopus 로고
    • SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia
    • McNair W.P., Ku L., Taylor M.R., et al. SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia. Circulation 2004, 110(15):2163-2167.
    • (2004) Circulation , vol.110 , Issue.15 , pp. 2163-2167
    • McNair, W.P.1    Ku, L.2    Taylor, M.R.3
  • 37
    • 12544257550 scopus 로고    scopus 로고
    • Sodium channel mutations and susceptibility to heart failure and atrial fibrillation
    • Olson T.M., Michels V.V., Ballew J.D., 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
  • 38
    • 0037470512 scopus 로고    scopus 로고
    • Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban
    • Schmitt J.P., Kamisago M., Asahi M. Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. Science 2003, 299(5611):1410-1413.
    • (2003) Science , vol.299 , Issue.5611 , pp. 1410-1413
    • Schmitt, J.P.1    Kamisago, M.2    Asahi, M.3
  • 39
    • 79956116043 scopus 로고    scopus 로고
    • SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism
    • McNair W.P., Sinagra G., Taylor M.R., et al. SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism. J Am Coll Cardiol 2011, 57:2160-2168.
    • (2011) J Am Coll Cardiol , vol.57 , pp. 2160-2168
    • McNair, W.P.1    Sinagra, G.2    Taylor, M.R.3
  • 40
    • 84914176677 scopus 로고    scopus 로고
    • Outcome in phospholamban R14del carriers: results of a large multicentre cohort study
    • van Rijsingen I.A., van der Zwaag P.A., Groeneweg J.A., et al. Outcome in phospholamban R14del carriers: results of a large multicentre cohort study. Circ Cardiovasc Genet 2014, 7(4):455-465.
    • (2014) Circ Cardiovasc Genet , vol.7 , Issue.4 , pp. 455-465
    • van Rijsingen, I.A.1    van der Zwaag, P.A.2    Groeneweg, J.A.3
  • 41
    • 33947727990 scopus 로고    scopus 로고
    • Prevalence of desmin mutations in dilated cardiomyopathy
    • Taylor M.R., 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
  • 42
    • 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
  • 43
    • 10744231114 scopus 로고    scopus 로고
    • A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C
    • Arimura T., Hayashi T., Terada H., et al. A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C. J Biol Chem 2004, 279:6746-6752.
    • (2004) J Biol Chem , vol.279 , pp. 6746-6752
    • Arimura, T.1    Hayashi, T.2    Terada, H.3
  • 44
    • 13144260646 scopus 로고    scopus 로고
    • Mutations in ZASP define a novel form of muscular dystrophy in humans
    • Selcen D., Engel A.G. Mutations in ZASP define a novel form of muscular dystrophy in humans. Ann Neurol 2005, 57:269-276.
    • (2005) Ann Neurol , vol.57 , pp. 269-276
    • Selcen, D.1    Engel, A.G.2
  • 45
    • 0027193330 scopus 로고
    • X linked dilated cardiomyopathy: molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus
    • Towbin J.A., Hejtmancik J.F., 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(6):1854-1865.
    • (1993) Circulation , vol.87 , Issue.6 , pp. 1854-1865
    • Towbin, J.A.1    Hejtmancik, J.F.2    Brink, P.3
  • 46
    • 81255197001 scopus 로고    scopus 로고
    • Dilated cardiomyopathy-associated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes
    • Arimura T., Ishikawa T., Nunoda S., Kawai S., Kimura A. Dilated cardiomyopathy-associated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes. Hum Mutat 2011, 32:1481-1491.
    • (2011) Hum Mutat , vol.32 , pp. 1481-1491
    • Arimura, T.1    Ishikawa, T.2    Nunoda, S.3    Kawai, S.4    Kimura, A.5
  • 47
    • 79955929421 scopus 로고    scopus 로고
    • Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy
    • Norton N., Li D., Rieder M.J., et al. Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy. Am J Hum Genet 2011, 88:273-282.
    • (2011) Am J Hum Genet , vol.88 , pp. 273-282
    • Norton, N.1    Li, D.2    Rieder, M.J.3
  • 48
    • 84904909098 scopus 로고    scopus 로고
    • Decreased levels of BAG3 in a family with a rare variant and in idiopathic dilated cardiomyopathy
    • Feldman A.M., Begay R.L., Knezevic T., et al. Decreased levels of BAG3 in a family with a rare variant and in idiopathic dilated cardiomyopathy. J Cell Physiol 2014, 229(11):1697-1702.
    • (2014) J Cell Physiol , vol.229 , Issue.11 , pp. 1697-1702
    • Feldman, A.M.1    Begay, R.L.2    Knezevic, T.3
  • 49
    • 34548407064 scopus 로고    scopus 로고
    • Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells
    • Knöll R., Postel R., Wang J., et al. Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells. Circulation 2007, 116:515-525.
    • (2007) Circulation , vol.116 , pp. 515-525
    • Knöll, R.1    Postel, R.2    Wang, J.3
  • 50
    • 33845309490 scopus 로고    scopus 로고
    • Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness
    • Murakami T., Hayashi J.K., Noguchi S., et al. Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness. Ann Neurol 2006, 60:597-602.
    • (2006) Ann Neurol , vol.60 , pp. 597-602
    • Murakami, T.1    Hayashi, J.K.2    Noguchi, S.3
  • 51
    • 77955952904 scopus 로고    scopus 로고
    • Prognostic impact of familial screening in dilated cardiomyopathy
    • Moretti M., Merlo M., Barbati G., et al. Prognostic impact of familial screening in dilated cardiomyopathy. Eur J Heart Fail 2010, 12(9):922-927.
    • (2010) Eur J Heart Fail , vol.12 , Issue.9 , pp. 922-927
    • Moretti, M.1    Merlo, M.2    Barbati, G.3
  • 52
    • 84899476119 scopus 로고    scopus 로고
    • Guidelines for investigating causality of sequence variants in human disease
    • MacArthur D.G., Manolio T.A., Dimmock D.P., et al. Guidelines for investigating causality of sequence variants in human disease. Nature 2014, 508(7497):469-476.
    • (2014) Nature , vol.508 , Issue.7497 , pp. 469-476
    • MacArthur, D.G.1    Manolio, T.A.2    Dimmock, D.P.3
  • 53
    • 84876225979 scopus 로고    scopus 로고
    • Genetic testing in cardiovascular medicine: current landscape and future horizons
    • Sturm A.C., Hershberger R.E. Genetic testing in cardiovascular medicine: current landscape and future horizons. Curr Opin Cardiol 2013, 28:317-325.
    • (2013) Curr Opin Cardiol , vol.28 , pp. 317-325
    • Sturm, A.C.1    Hershberger, R.E.2
  • 55
    • 0036787237 scopus 로고    scopus 로고
    • Molecular mechanisms of inherited cardiomyopathies
    • Fatkin D., Graham R.M. Molecular mechanisms of inherited cardiomyopathies. Physiol Rev 2002, 82:945-980.
    • (2002) Physiol Rev , vol.82 , pp. 945-980
    • Fatkin, D.1    Graham, R.M.2
  • 56
    • 65549154913 scopus 로고    scopus 로고
    • 2009 focused update: ACCF/AHA 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
    • Jessup M., Abraham W.T., Casey D.E., et al. 2009 focused update: ACCF/AHA 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. Circulation 2009, 119(14):1977-2016.
    • (2009) Circulation , vol.119 , Issue.14 , pp. 1977-2016
    • Jessup, M.1    Abraham, W.T.2    Casey, D.E.3
  • 57
    • 53549085406 scopus 로고    scopus 로고
    • ESC guidelines for the diagnosis and treatment of acute and chronic heart failure 2008
    • Dickstein K., Cohen-Solal A., Filippatos G., et al. ESC guidelines for the diagnosis and treatment of acute and chronic heart failure 2008. Eur J Heart Fail 2008, 8:933-989.
    • (2008) Eur J Heart Fail , vol.8 , pp. 933-989
    • Dickstein, K.1    Cohen-Solal, A.2    Filippatos, G.3
  • 58
    • 0023266532 scopus 로고
    • Effects of enalapril on mortality in severe congestive heart failure. Results of the Cooperative North Scandinavian Enalapril Survival Study (CONSENSUS). The CONSENSUS Trial Study Group
    • Effects of enalapril on mortality in severe congestive heart failure. Results of the Cooperative North Scandinavian Enalapril Survival Study (CONSENSUS). The CONSENSUS Trial Study Group. N Engl J Med 1987, 316:1429-1435.
    • (1987) N Engl J Med , vol.316 , pp. 1429-1435
  • 59
    • 0025913812 scopus 로고
    • Effect of enalapril on survival in patients with reduced left ventricular ejection fractions and congestive heart failure
    • The SOLVD Investigators Effect of enalapril on survival in patients with reduced left ventricular ejection fractions and congestive heart failure. N Engl J Med 1991, 325:293-302.
    • (1991) N Engl J Med , vol.325 , pp. 293-302
  • 60
    • 0033534085 scopus 로고    scopus 로고
    • Comparative effects of low and high doses of the angiotensin-converting enzyme inhibitor, lisinopril, on morbidity and mortality in chronic heart failure. ATLAS Study Group
    • Packer M., Poole-Wilson P.A., Armstrong P.W., et al. Comparative effects of low and high doses of the angiotensin-converting enzyme inhibitor, lisinopril, on morbidity and mortality in chronic heart failure. ATLAS Study Group. Circulation 1999, 100(23):2312-2318.
    • (1999) Circulation , vol.100 , Issue.23 , pp. 2312-2318
    • Packer, M.1    Poole-Wilson, P.A.2    Armstrong, P.W.3
  • 61
    • 0028955321 scopus 로고
    • Overview of randomized trials of angiotensin-converting enzyme inhibitors on mortality and morbidity in patients with heart failure. Collaborative Group on ACE Inhibitor Trials
    • Garg R., Yusuf S. Overview of randomized trials of angiotensin-converting enzyme inhibitors on mortality and morbidity in patients with heart failure. Collaborative Group on ACE Inhibitor Trials. JAMA 1995, 273:1450-1456.
    • (1995) JAMA , vol.273 , pp. 1450-1456
    • Garg, R.1    Yusuf, S.2
  • 62
    • 0033549290 scopus 로고    scopus 로고
    • Effect of metoprolol CR/XL in chronic heart failure. Metoprolol CR/XL randomized intervention trial in congestive heart failure (MERIT-HF)
    • MERIT-HF Study Group Effect of metoprolol CR/XL in chronic heart failure. Metoprolol CR/XL randomized intervention trial in congestive heart failure (MERIT-HF). Lancet 1999, 353:2001-2007.
    • (1999) Lancet , vol.353 , pp. 2001-2007
  • 63
    • 0029937949 scopus 로고    scopus 로고
    • The effect of carvedilol on morbidity and mortality in patients with chronic heart failure. U.S. Carvedilol Heart Failure Study Group
    • Packer M., Bristor M.R., Cohn J.N., et al. The effect of carvedilol on morbidity and mortality in patients with chronic heart failure. U.S. Carvedilol Heart Failure Study Group. N Engl J Med 1996, 334:1349-1355.
    • (1996) N Engl J Med , vol.334 , pp. 1349-1355
    • Packer, M.1    Bristor, M.R.2    Cohn, J.N.3
  • 64
    • 0037159310 scopus 로고    scopus 로고
    • Effects of carvedilol on the morbidity of patients with severe chronic heart failure: results of the Carvedilol Prospective Randomized Cumulative Survival (COPERNICUS) study
    • Packer M., Fowler M.B., Roecker E.B., et al. Effects of carvedilol on the morbidity of patients with severe chronic heart failure: results of the Carvedilol Prospective Randomized Cumulative Survival (COPERNICUS) study. Circulation 2002, 106:2194-2199.
    • (2002) Circulation , vol.106 , pp. 2194-2199
    • Packer, M.1    Fowler, M.B.2    Roecker, E.B.3
  • 65
    • 3142776467 scopus 로고    scopus 로고
    • Comparison of carvedilol and metoprolol on clinic outcomes in patients with chronic heart failure in the Carvedilol or Metoprolol European Trial (COMET): randomized controlled trial
    • Poole-Wilson P.A., Swedberg K., Cleland J.G., et al. Comparison of carvedilol and metoprolol on clinic outcomes in patients with chronic heart failure in the Carvedilol or Metoprolol European Trial (COMET): randomized controlled trial. Lancet 2003, 362:7-13.
    • (2003) Lancet , vol.362 , pp. 7-13
    • Poole-Wilson, P.A.1    Swedberg, K.2    Cleland, J.G.3
  • 66
    • 65549145093 scopus 로고    scopus 로고
    • 2009 focused update incorporated into the ACC/AHA 2005 Guidelines for the diagnosis and management of heart failure in adults
    • Hunt S.A., Abraham W.T., Chin M.H., et al. 2009 focused update incorporated into the ACC/AHA 2005 Guidelines for the diagnosis and management of heart failure in adults. Circulation 2009, 119:e391-e479.
    • (2009) Circulation , vol.119 , pp. e391-e479
    • Hunt, S.A.1    Abraham, W.T.2    Chin, M.H.3
  • 67
    • 0035978763 scopus 로고    scopus 로고
    • Carvedilol Prospective Randomized Cumulative Survival Study Group. Effect of carvedilol on survival in severe chronic heart failure
    • Packer M., Coats A.J., Fowler M.B., et al. Carvedilol Prospective Randomized Cumulative Survival Study Group. Effect of carvedilol on survival in severe chronic heart failure. N Engl J Med 2001, 344:1651-1658.
    • (2001) N Engl J Med , vol.344 , pp. 1651-1658
    • Packer, M.1    Coats, A.J.2    Fowler, M.B.3
  • 68
    • 0041909380 scopus 로고    scopus 로고
    • Effects of candesartan in patients with chronic heart failure and reduced left-ventricular systolic function intolerant to angiotensin-converting-enzyme inhibitors: the CHARM-Alternative trial
    • Granger C.B., McMurray J.J., Yusuf S., et al. Effects of candesartan in patients with chronic heart failure and reduced left-ventricular systolic function intolerant to angiotensin-converting-enzyme inhibitors: the CHARM-Alternative trial. Lancet 2003, 362:772-776.
    • (2003) Lancet , vol.362 , pp. 772-776
    • Granger, C.B.1    McMurray, J.J.2    Yusuf, S.3
  • 69
    • 0033514046 scopus 로고    scopus 로고
    • The Cardiac Insufficiency Bisoprolol Study II (CIBIS-II): a randomised trial
    • The Cardiac Insufficiency Bisoprolol Study II (CIBIS-II): a randomised trial. Lancet 1999, 353:9-13.
    • (1999) Lancet , vol.353 , pp. 9-13
  • 70
    • 0037716744 scopus 로고    scopus 로고
    • Effect of enalapril on 12-year survival and life expectancy in patients with left ventricular systolic dysfunction: a follow-up study
    • Jong P., Yusuf S., Rousseau M.F., Ahn S.A., Bangdiwala S.I. Effect of enalapril on 12-year survival and life expectancy in patients with left ventricular systolic dysfunction: a follow-up study. Lancet 2003, 361:1843-1848.
    • (2003) Lancet , vol.361 , pp. 1843-1848
    • Jong, P.1    Yusuf, S.2    Rousseau, M.F.3    Ahn, S.A.4    Bangdiwala, S.I.5
  • 71
    • 34347361610 scopus 로고    scopus 로고
    • Metoprolol reverses left ventricular remodeling in patients with asymptomatic systolic dysfunction: the REversal of VEntricular Remodeling with Toprol-XL (REVERT) trial
    • Colucci W.S., Kolias T.J., Adams K.F., et al. Metoprolol reverses left ventricular remodeling in patients with asymptomatic systolic dysfunction: the REversal of VEntricular Remodeling with Toprol-XL (REVERT) trial. Circulation 2007, 116:49-56.
    • (2007) Circulation , vol.116 , pp. 49-56
    • Colucci, W.S.1    Kolias, T.J.2    Adams, K.F.3
  • 74
    • 80051690306 scopus 로고    scopus 로고
    • Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study
    • Cirak S., Arechavala-Gomeza V., Guglieri M., et al. Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study. Lancet 2011, 378(9791):595-605.
    • (2011) Lancet , vol.378 , Issue.9791 , pp. 595-605
    • Cirak, S.1    Arechavala-Gomeza, V.2    Guglieri, M.3
  • 75
    • 79955158683 scopus 로고    scopus 로고
    • Systemic administration of PRO051 in Duchenne's muscular dystrophy
    • Goemans N.M., Tulinius M., van Den Akker J.T., et al. Systemic administration of PRO051 in Duchenne's muscular dystrophy. N Engl J Med 2011, 364(16):1513-1522.
    • (2011) N Engl J Med , vol.364 , Issue.16 , pp. 1513-1522
    • Goemans, N.M.1    Tulinius, M.2    van Den Akker, J.T.3
  • 76
    • 37549034298 scopus 로고    scopus 로고
    • Local dystrophin restoration with antisense oligonucleotide PRO051
    • van Deutekom J.C., Janson A.A., Ginjaar I.B., et al. Local dystrophin restoration with antisense oligonucleotide PRO051. N Engl J Med 2007, 357(26):2677-2686.
    • (2007) N Engl J Med , vol.357 , Issue.26 , pp. 2677-2686
    • van Deutekom, J.C.1    Janson, A.A.2    Ginjaar, I.B.3
  • 77
    • 69949107887 scopus 로고    scopus 로고
    • Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study
    • Kinali M., Arechavala-Gomeza V., Feng L., et al. Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study. Lancet Neurol 2009, 8(10):918-928.
    • (2009) Lancet Neurol , vol.8 , Issue.10 , pp. 918-928
    • Kinali, M.1    Arechavala-Gomeza, V.2    Feng, L.3
  • 78
    • 84901663192 scopus 로고    scopus 로고
    • RAF1 mutations in childhood-onset dilated cardiomyopathy
    • Dhandapany P.S., Razzaque M.A., Muthusami U., et al. RAF1 mutations in childhood-onset dilated cardiomyopathy. Nat Genet 2014, 46(6):635-639.
    • (2014) Nat Genet , vol.46 , Issue.6 , pp. 635-639
    • Dhandapany, P.S.1    Razzaque, M.A.2    Muthusami, U.3
  • 79
    • 84864524683 scopus 로고    scopus 로고
    • Temsirolimus activates autophagy and ameliorates cardiomyopathy caused by lamin A/C gene mutation
    • 144ra102
    • Choi J.C., Muchir A., Wu W., et al. Temsirolimus activates autophagy and ameliorates cardiomyopathy caused by lamin A/C gene mutation. Sci Transl Med 2012, 4(144):144ra102.
    • (2012) Sci Transl Med , vol.4 , Issue.144
    • Choi, J.C.1    Muchir, A.2    Wu, W.3
  • 80
    • 84864523531 scopus 로고    scopus 로고
    • Rapamycin reverses elevated mTORC1 signaling in lamin A/C-deficient mice, rescues cardiac and skeletal muscle function, and extends survival
    • 144ra103
    • Ramos F.J., Chen S.C., Garelick M.G., et al. Rapamycin reverses elevated mTORC1 signaling in lamin A/C-deficient mice, rescues cardiac and skeletal muscle function, and extends survival. Sci Transl Med 2012, 4(144):144ra103.
    • (2012) Sci Transl Med , vol.4 , Issue.144
    • Ramos, F.J.1    Chen, S.C.2    Garelick, M.G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.