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Volumn 10, Issue 9, 2013, Pages 531-547

Dilated cardiomyopathy: The complexity of a diverse genetic architecture

Author keywords

[No Author keywords available]

Indexed keywords

1,4 DIHYDROPYRIDINE RECEPTOR; ADRENERGIC RECEPTOR STIMULATING AGENT; ALPHA ACTIN; ALPHA ACTININ 2; ALPHA TROPOMYOSIN; ANKYRIN; BETA ADRENERGIC RECEPTOR; DELTA SARCOGLYCAN; DESMIN; DESMOGLEIN 2; DESMOPLAKIN; DYSTROPHIN; DYSTROPHIN ASSOCIATED PROTEIN; GLYCERYL TRINITRATE; IMATINIB; INTEGRIN LINKED KINASE; LAMIN A; LAMIN C; LIM PROTEIN; MYOSIN; MYOSIN BINDING PROTEIN C; MYOSIN VI; PDZ PROTEIN; PHOSPHOLAMBAN; PRESENILIN 1; THYMOPOIETIN; TROPONIN C; TROPONIN I; TROPONIN T; UNINDEXED DRUG;

EID: 84883163817     PISSN: 17595002     EISSN: 17595010     Source Type: Journal    
DOI: 10.1038/nrcardio.2013.105     Document Type: Review
Times cited : (757)

References (130)
  • 1
    • 15944403997 scopus 로고    scopus 로고
    • Clinical and genetic issues in familial dilated cardiomyopathy
    • Burkett, E. L. & Hershberger, R. E. Clinical and genetic issues in familial dilated cardiomyopathy. J. Am. Coll. Cardiol. 45, 969-981 (2005).
    • (2005) J. Am. Coll. Cardiol. , vol.45 , pp. 969-981
    • Burkett, E.L.1    Hershberger, R.E.2
  • 2
    • 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. 12, 655-667 (2010).
    • (2010) Genet. Med. , vol.12 , pp. 655-667
    • Hershberger, R.E.1    Morales, A.2    Siegfried, J.D.3
  • 4
    • 77249109399 scopus 로고    scopus 로고
    • Dilated cardiomyopathy
    • Jefferies, J. L. & Towbin, J. A. Dilated cardiomyopathy. Lancet 375, 752-762 (2010).
    • (2010) Lancet , vol.375 , pp. 752-762
    • Jefferies, J.L.1    Towbin, J.A.2
  • 5
    • 77952158022 scopus 로고    scopus 로고
    • The genetics of dilated cardiomyopathy
    • Dellefave, L. & McNally, E. M. The genetics of dilated cardiomyopathy. Curr. Opin. Cardiol. 25, 198-204 (2010).
    • (2010) Curr. Opin. Cardiol. , vol.25 , pp. 198-204
    • Dellefave, L.1    McNally, E.M.2
  • 6
    • 84856703950 scopus 로고    scopus 로고
    • Genetics of inherited cardiomyopathy
    • Jacoby, D. & McKenna, W. J. Genetics of inherited cardiomyopathy. Eur. Heart J. 33, 296-304 (2012).
    • (2012) Eur. Heart J. , vol.33 , pp. 296-304
    • Jacoby, D.1    McKenna, W.J.2
  • 7
    • 84863890474 scopus 로고    scopus 로고
    • Where genome meets phenome: Rationale for integrating genetic and protein biomarkers in the diagnosis and management of dilated cardiomyopathy and heart failure
    • Piran, S., Liu, P., Morales, A. & Hershberger, R. E. Where genome meets phenome: rationale for integrating genetic and protein biomarkers in the diagnosis and management of dilated cardiomyopathy and heart failure. J. Am. Coll. Cardiol. 60, 283-289 (2012).
    • (2012) J. Am. Coll. Cardiol. , vol.60 , pp. 283-289
    • Piran, S.1    Liu, P.2    Morales, A.3    Hershberger, R.E.4
  • 8
    • 84884589395 scopus 로고    scopus 로고
    • Clinical utility gene card for: Dilated cardiomyopathy (CMD)
    • Posafalvi, A. et al. Clinical utility gene card for: dilated cardiomyopathy (CMD). Eur. J. Hum. Genet. http://dx.doi.org/10.1038/ejhg.2012. 276.
    • Eur. J. Hum. Genet.
    • Posafalvi, A.1
  • 10
    • 83055182072 scopus 로고    scopus 로고
    • Next-generation DNA sequencing, regulation, and the limits of paternalism: The next challenge
    • Evans, J. P. & Berg, J. S. Next-generation DNA sequencing, regulation, and the limits of paternalism: the next challenge. JAMA 306, 2376-2377 (2011).
    • (2011) JAMA , vol.306 , pp. 2376-2377
    • Evans, J.P.1    Berg, J.S.2
  • 11
    • 79959767866 scopus 로고    scopus 로고
    • Molecular diagnostics of cardiomyopathies: The future is here
    • Bagnall, R. D., Ingles, J. & Semsarian, C. Molecular diagnostics of cardiomyopathies: the future is here. Circ. Cardiovasc. Genet. 4, 103-104 (2011).
    • (2011) Circ. Cardiovasc. Genet. , vol.4 , pp. 103-104
    • Bagnall, R.D.1    Ingles, J.2    Semsarian, C.3
  • 12
    • 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. 28, 317-325 (2013).
    • (2013) Curr. Opin. Cardiol. , vol.28 , pp. 317-325
    • Sturm, A.C.1    Hershberger, R.E.2
  • 13
    • 84859218872 scopus 로고    scopus 로고
    • Genetic testing for dilated cardiomyopathy in clinical practice
    • Lakdawala, N. K. et al. Genetic testing for dilated cardiomyopathy in clinical practice. J. Card. Fail. 18, 296-303 (2012).
    • (2012) J. Card. Fail. , vol.18 , pp. 296-303
    • Lakdawala, N.K.1
  • 14
    • 84874524757 scopus 로고    scopus 로고
    • Inherited cardiomyopathies: Molecular genetics and clinical genetic testing in the postgenomic era
    • Teekakirikul, P., Kelly, M. A., Rehm, H. L., Lakdawala, N. K. & Funke, B. H. Inherited cardiomyopathies: molecular genetics and clinical genetic testing in the postgenomic era. J. Mol. Diagn. 15, 158-170 (2012).
    • (2012) J. Mol. Diagn. , vol.15 , pp. 158-170
    • Teekakirikul, P.1    Kelly, M.A.2    Rehm, H.L.3    Lakdawala, N.K.4    Funke, B.H.5
  • 15
    • 84873935699 scopus 로고    scopus 로고
    • Action and the actionability in exome variation
    • MacRae, C. A. Action and the actionability in exome variation. Circ. Cardiovasc. Genet. 5, 597-598 (2012).
    • (2012) Circ. Cardiovasc. Genet. , vol.5 , pp. 597-598
    • MacRae, C.A.1
  • 16
    • 38349086961 scopus 로고    scopus 로고
    • Classification of the cardiomyopathies: A position statement from the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases
    • Elliott, P. et al. Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur. Heart J. 29, 270-276 (2008).
    • (2008) Eur. Heart J. , vol.29 , pp. 270-276
    • Elliott, P.1
  • 17
    • 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. 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 113, 1807-1816 (2006).
    • (2006) Circulation , vol.113 , pp. 1807-1816
    • Maron, B.J.1
  • 18
    • 84885845957 scopus 로고    scopus 로고
    • 2013 ACCF/AHA guideline for the management of heart failure: A report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines
    • Yancy, C. W. et al. 2013 ACCF/AHA guideline for the management of heart failure: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. Circulation http://dx.doi.org/10.1161/CIR.0b013e31829e8776.
    • Circulation
    • Yancy, C.W.1
  • 19
    • 77950482741 scopus 로고    scopus 로고
    • Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: Proposed modification of the Task Force Criteria
    • Marcus, F. I. et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria. Eur. Heart J. 31, 806-814 (2010).
    • (2010) Eur. Heart J. , vol.31 , pp. 806-814
    • Marcus, F.I.1
  • 20
    • 0024422923 scopus 로고
    • 3rd 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. 3rd Epidemiology of idiopathic dilated and hypertrophic cardiomyopathy: a population-based study in Olmsted County, Minnesota, 1975-1984. Circulation 80, 564-572 (1989).
    • (1989) Circulation , vol.80 , pp. 564-572
    • Codd, M.B.1    Sugrue, D.D.2    Gersh, B.J.3    Melton, L.J.4
  • 21
    • 0029083650 scopus 로고
    • Prevalence of hypertrophic cardiomyopathy in a general population of young adults: Echocardiographic analysis of 4111 subjects in the CARDIA study. Coronary Artery Risk Development in (Young) Adults
    • Maron, B. J. 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 92, 785-789 (1995).
    • (1995) Circulation , vol.92 , pp. 785-789
    • Maron, B.J.1
  • 22
    • 0033577053 scopus 로고    scopus 로고
    • Clinical course of hypertrophic cardiomyopathy in a regional United States cohort
    • Maron, B. J. et al. Clinical course of hypertrophic cardiomyopathy in a regional United States cohort. JAMA 281, 650-655 (1999).
    • (1999) JAMA , vol.281 , pp. 650-655
    • Maron, B.J.1
  • 23
    • 84872091789 scopus 로고    scopus 로고
    • Heart disease and stroke statistics-2013 update: A report from the American Heart Association
    • Go, A. S. et al. Heart disease and stroke statistics-2013 update: a report from the American Heart Association. Circulation 127, e6-e245 (2013).
    • (2013) Circulation , vol.127
    • Go, A.S.1
  • 24
    • 0037425535 scopus 로고    scopus 로고
    • Burden of systolic and diastolic ventricular dysfunction in the community: Appreciating the scope of the heart failure epidemic
    • Redfield, M. M. et al. Burden of systolic and diastolic ventricular dysfunction in the community: appreciating the scope of the heart failure epidemic. JAMA 289, 194-202 (2003).
    • (2003) JAMA , vol.289 , pp. 194-202
    • Redfield, M.M.1
  • 25
    • 0035978801 scopus 로고    scopus 로고
    • A trial of the beta-blocker bucindolol in patients with advanced chronic heart failure
    • The Beta-Blocker Evaluation of Survival Trial Investigators
    • The Beta-Blocker Evaluation of Survival Trial Investigators. A trial of the beta-blocker bucindolol in patients with advanced chronic heart failure. N. Engl. J. Med. 344, 1659-1667 (2001).
    • (2001) N. Engl. J. Med. , vol.344 , pp. 1659-1667
  • 26
    • 33846263440 scopus 로고    scopus 로고
    • Heart failure and a controlled trial investigating outcomes of exercise training (HF-ACTION): Design and rationale
    • Whellan, D. J. et al. Heart failure and a controlled trial investigating outcomes of exercise training (HF-ACTION): design and rationale. Am. Heart J. 153, 201-211 (2007).
    • (2007) Am. Heart J. , vol.153 , pp. 201-211
    • Whellan, D.J.1
  • 27
    • 84878965644 scopus 로고    scopus 로고
    • Family history of dilated cardiomyopathy among patients with heart failure from the HF-ACTION genetic ancillary study
    • Hudson, L. et al. Family history of dilated cardiomyopathy among patients with heart failure from the HF-ACTION genetic ancillary study. Clin. Trans. Sci. 6, 179-183 (2013).
    • (2013) Clin. Trans. Sci. , vol.6 , pp. 179-183
    • Hudson, L.1
  • 28
    • 0035810547 scopus 로고    scopus 로고
    • Effect of carvedilol on outcome after myocardial infarction in patients with left-ventricular dysfunction: The CAPRICORN randomised trial
    • Dargie, H. J. Effect of carvedilol on outcome after myocardial infarction in patients with left-ventricular dysfunction: the CAPRICORN randomised trial. Lancet 357, 1385-1390 (2001).
    • (2001) Lancet , vol.357 , pp. 1385-1390
    • Dargie, H.J.1
  • 29
    • 0030882421 scopus 로고    scopus 로고
    • Symptomatic and asymptomatic left-ventricular systolic dysfunction in an urban population
    • McDonagh, T. A. et al. Symptomatic and asymptomatic left-ventricular systolic dysfunction in an urban population. Lancet 350, 829-833 (1997).
    • (1997) Lancet , vol.350 , pp. 829-833
    • McDonagh, T.A.1
  • 30
    • 0035845307 scopus 로고    scopus 로고
    • Prevalence of left-ventricular systolic dysfunction and heart failure in the Echocardiographic Heart of England Screening study: A population based study
    • Davies, M. et al. Prevalence of left-ventricular systolic dysfunction and heart failure in the Echocardiographic Heart of England Screening study: a population based study. Lancet 358, 439-444 (2001).
    • (2001) Lancet , vol.358 , pp. 439-444
    • Davies, M.1
  • 31
    • 0041356972 scopus 로고    scopus 로고
    • Natural history of asymptomatic left ventricular systolic dysfunction in the community
    • Wang, T. J. et al. Natural history of asymptomatic left ventricular systolic dysfunction in the community. Circulation 108, 977-982 (2003).
    • (2003) Circulation , vol.108 , pp. 977-982
    • Wang, T.J.1
  • 32
    • 84870595305 scopus 로고    scopus 로고
    • Prognosis of individuals with asymptomatic left ventricular systolic dysfunction in the Multi-Ethnic Study of Atherosclerosis (MESA)
    • Yeboah, J. et al. Prognosis of individuals with asymptomatic left ventricular systolic dysfunction in the Multi-Ethnic Study of Atherosclerosis (MESA). Circulation 126, 2713-2719 (2012).
    • (2012) Circulation , vol.126 , pp. 2713-2719
    • Yeboah, J.1
  • 33
    • 77649204327 scopus 로고    scopus 로고
    • The importance of the family history in caring for families with long QT syndrome and dilated cardiomyopathy
    • Ruiter, J. S. et al. The importance of the family history in caring for families with long QT syndrome and dilated cardiomyopathy. Am. J. Med. Genet. A 152A, 607-612 (2010).
    • (2010) Am. J. Med. Genet. A , vol.152 A , pp. 607-612
    • Ruiter, J.S.1
  • 34
    • 0026319459 scopus 로고
    • The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy
    • Michels, V. V. et al. The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy. N. Engl. J. Med. 326, 77-82 (1992).
    • (1992) N. Engl. J. Med. , vol.326 , pp. 77-82
    • Michels, V.V.1
  • 35
    • 84876260987 scopus 로고    scopus 로고
    • Temporal relationship of conduction system disease and ventricular dysfunction in LMNA cardiomyopathy
    • Brodt, C. et al. Temporal relationship of conduction system disease and ventricular dysfunction in LMNA cardiomyopathy. J. Card. Fail. 19, 233-239 (2013).
    • (2013) J. Card. Fail. , vol.19 , pp. 233-239
    • Brodt, C.1
  • 36
    • 0036478897 scopus 로고    scopus 로고
    • Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy
    • Gerull, B. et al. Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Nat. Genet. 14, 201-204 (2002).
    • (2002) Nat. Genet. , vol.14 , pp. 201-204
    • Gerull, B.1
  • 37
    • 84863116641 scopus 로고    scopus 로고
    • Truncations of titin causing dilated cardiomyopathy
    • Herman, D. S. et al. Truncations of titin causing dilated cardiomyopathy. N. Engl. J. Med. 366, 619-628 (2012).
    • (2012) N. Engl. J. Med. , vol.366 , pp. 619-628
    • Herman, D.S.1
  • 38
    • 84876276624 scopus 로고    scopus 로고
    • Exome sequencing and genome-wide linkage analysis in 17 families illustrates the complex contribution of TTN truncating variants to dilated cardiomyopathy
    • Norton, N. et al. Exome sequencing and genome-wide linkage analysis in 17 families illustrates the complex contribution of TTN truncating variants to dilated cardiomyopathy. Circ. Cardiovasc. Genet. 6, 144-153 (2013).
    • (2013) Circ. Cardiovasc. Genet. , vol.6 , pp. 144-153
    • Norton, N.1
  • 39
    • 84873884826 scopus 로고    scopus 로고
    • Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation
    • Pan, S. et al. Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation. Circ. Cardiovasc. Genet. 5, 602-610 (2012).
    • (2012) Circ. Cardiovasc. Genet. , vol.5 , pp. 602-610
    • Pan, S.1
  • 40
    • 84860826709 scopus 로고    scopus 로고
    • Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era
    • Norton, N. et al. Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era. Circ. Cardiovasc. Genet. 5, 167-174 (2012).
    • (2012) Circ. Cardiovasc. Genet. , vol.5 , pp. 167-174
    • Norton, N.1
  • 41
    • 84867824466 scopus 로고    scopus 로고
    • Population-based variation in cardiomyopathy genes
    • Golbus, J. R. et al. Population-based variation in cardiomyopathy genes. Circ. Cardiovasc. Genet. 5, 391-399 (2012).
    • (2012) Circ. Cardiovasc. Genet. , vol.5 , pp. 391-399
    • Golbus, J.R.1
  • 42
    • 80052294217 scopus 로고    scopus 로고
    • LMNA cardiomyopathy: Cell biology and genetics meet clinical medicine
    • Lu, J. T., Muchir, A., Nagy, P. L. & Worman, H. J. LMNA cardiomyopathy: cell biology and genetics meet clinical medicine. Dis. Model. Mech. 4, 562-568 (2011).
    • (2011) Dis. Model. Mech. , vol.4 , pp. 562-568
    • Lu, J.T.1    Muchir, A.2    Nagy, P.L.3    Worman, H.J.4
  • 43
    • 45649083874 scopus 로고    scopus 로고
    • Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy
    • Parks, S. B. et al. Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. Am. Heart J. 156, 161-169 (2008).
    • (2008) Am. Heart J. , vol.156 , pp. 161-169
    • Parks, S.B.1
  • 44
    • 60949103027 scopus 로고    scopus 로고
    • Genetic evaluation of cardiomyopathy-A Heart Failure Society of America practice guideline
    • Hershberger, R. E. et al. Genetic evaluation of cardiomyopathy-a Heart Failure Society of America practice guideline. J. Card. Fail. 15, 83-97 (2009).
    • (2009) J. Card. Fail. , vol.15 , pp. 83-97
    • Hershberger, R.E.1
  • 45
    • 84866088969 scopus 로고    scopus 로고
    • Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts
    • Bick, A. G. et al. Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts. Am. J. Hum. Genet. 91, 513-519 (2012).
    • (2012) Am. J. Hum. Genet. , vol.91 , pp. 513-519
    • Bick, A.G.1
  • 46
    • 67649452451 scopus 로고    scopus 로고
    • Promoter methylation patterns of ATM, ATR, BRCA1, BRCA2 and p53 as putative cancer risk modifiers in Jewish BRCA1/BRCA2 mutation carriers
    • Kontorovich, T., Cohen, Y., Nir, U. & Friedman, E. Promoter methylation patterns of ATM, ATR, BRCA1, BRCA2 and p53 as putative cancer risk modifiers in Jewish BRCA1/BRCA2 mutation carriers. Breast Cancer Res. Treat. 116, 195-200 (2009).
    • (2009) Breast Cancer Res. Treat. , vol.116 , pp. 195-200
    • Kontorovich, T.1    Cohen, Y.2    Nir, U.3    Friedman, E.4
  • 47
    • 0037132786 scopus 로고    scopus 로고
    • Penetrance of 845GA (C282Y) HFE hereditary haemochromatosis mutation in the USA
    • Beutler, E., Felitti, V. J., Koziol, J. A., Ho, N. J. & Gelbart, T. Penetrance of 845GA (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet 359, 211-218 (2002).
    • (2002) Lancet , vol.359 , pp. 211-218
    • Beutler, E.1    Felitti, V.J.2    Koziol, J.A.3    Ho, N.J.4    Gelbart, T.5
  • 48
    • 20244372858 scopus 로고    scopus 로고
    • Hemochromatosis and iron-overload screening in a racially diverse population
    • Adams, P. C. et al. Hemochromatosis and iron-overload screening in a racially diverse population. N. Engl. J. Med. 352, 1769-1778 (2005).
    • (2005) N. Engl. J. Med. , vol.352 , pp. 1769-1778
    • Adams, P.C.1
  • 49
    • 84862795516 scopus 로고    scopus 로고
    • Next-generation sequencing to identify genetic causes of cardiomyopathies
    • Norton, N., Li, D. & Hershberger, R. E. Next-generation sequencing to identify genetic causes of cardiomyopathies. Curr. Opin. Cardiol. 27, 214-220 (2012).
    • (2012) Curr. Opin. Cardiol. , vol.27 , pp. 214-220
    • Norton, N.1    Li, D.2    Hershberger, R.E.3
  • 50
    • 0028488315 scopus 로고
    • Black-white differences in mortality in idiopathic dilated cardiomyopathy: The Washington, DC, dilated cardiomyopathy study
    • Coughlin, S. et al. Black-white differences in mortality in idiopathic dilated cardiomyopathy: the Washington, DC, dilated cardiomyopathy study. J. Natl Med. Assoc. 86, 583-591 (1994).
    • (1994) J. Natl Med. Assoc. , vol.86 , pp. 583-591
    • Coughlin, S.1
  • 51
    • 54949103982 scopus 로고    scopus 로고
    • Differences in the incidence of congestive heart failure by ethnicity: The Multi-Ethnic Study of Atherosclerosis
    • Bahrami, H. et al. Differences in the incidence of congestive heart failure by ethnicity: the Multi-Ethnic Study of Atherosclerosis. Arch. Intern. Med. 168, 2138-2145 (2008).
    • (2008) Arch. Intern. Med. , vol.168 , pp. 2138-2145
    • Bahrami, H.1
  • 52
    • 62749131642 scopus 로고    scopus 로고
    • Racial differences in incident heart failure among young adults
    • Bibbins-Domingo, K. et al. Racial differences in incident heart failure among young adults. N. Engl. J. Med. 360, 1179-1190 (2009).
    • (2009) N. Engl. J. Med. , vol.360 , pp. 1179-1190
    • Bibbins-Domingo, K.1
  • 53
    • 77649185345 scopus 로고    scopus 로고
    • Progress with genetic cardiomyopathies: Screening, counseling, and testing in dilated, hypertrophic, and arrhythmogenic right ventricular dysplasia/cardiomyopathy
    • Hershberger, R. E., Cowan, J., Morales, A. & Siegfried, J. D. Progress with genetic cardiomyopathies: screening, counseling, and testing in dilated, hypertrophic, and arrhythmogenic right ventricular dysplasia/ cardiomyopathy. Circ. Heart Fail. 2, 253-261 (2009).
    • (2009) Circ. Heart Fail. , vol.2 , pp. 253-261
    • Hershberger, R.E.1    Cowan, J.2    Morales, A.3    Siegfried, J.D.4
  • 54
    • 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)
    • Ackerman, M. J. 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). Heart Rhythm 8, 1308-1339 (2011).
    • (2011) Heart Rhythm , vol.8 , pp. 1308-1339
    • Ackerman, M.J.1
  • 55
    • 84879420805 scopus 로고    scopus 로고
    • Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics
    • Sikkema-Raddatz, B. et al. Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics. Hum. Mutat. 34, 1035-1042 (2013).
    • (2013) Hum. Mutat. , vol.34 , pp. 1035-1042
    • Sikkema-Raddatz, B.1
  • 56
    • 79953842000 scopus 로고    scopus 로고
    • State of the art review. Update 2011: Clinical and genetic issues in familial dilated cardiomyopathy
    • Hershberger, R. E. & Siegfried, J. D. State of the art review. Update 2011: clinical and genetic issues in familial dilated cardiomyopathy. J. Am. Coll. Cardiol. 57, 1641-1649 (2011).
    • (2011) J. Am. Coll. Cardiol. , vol.57 , pp. 1641-1649
    • Hershberger, R.E.1    Siegfried, J.D.2
  • 57
    • 84863556835 scopus 로고    scopus 로고
    • Evolution and functional impact of rare coding variation from deep sequencing of human exomes
    • Tennessen, J. A. et al. Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science 337, 64-69 (2012).
    • (2012) Science , vol.337 , pp. 64-69
    • Tennessen, J.A.1
  • 58
    • 77951651879 scopus 로고    scopus 로고
    • Single-nucleotide evolutionary constraint scores highlight disease-causing mutations
    • Cooper, G. M. et al. Single-nucleotide evolutionary constraint scores highlight disease-causing mutations. Nat. Methods 7, 250-251 (2010).
    • (2010) Nat. Methods , vol.7 , pp. 250-251
    • Cooper, G.M.1
  • 59
    • 23744458086 scopus 로고    scopus 로고
    • Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes
    • Siepel, A. et al. Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes. Genome Res. 15, 1034-1050 (2005).
    • (2005) Genome Res. , vol.15 , pp. 1034-1050
    • Siepel, A.1
  • 60
    • 0043122919 scopus 로고    scopus 로고
    • SIFT: Predicting amino acid changes that affect protein function
    • Ng, P. C. & Henikoff, S. SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res. 31, 3812-3814 (2003).
    • (2003) Nucleic Acids Res. , vol.31 , pp. 3812-3814
    • Ng, P.C.1    Henikoff, S.2
  • 61
    • 84878799611 scopus 로고    scopus 로고
    • Predicting functional effect of human missense mutations using PolyPhen-2
    • Chapter 7, unit 7.20
    • Adzhubei, I., Jordan, D. M. & Sunyaev, S. R. Predicting functional effect of human missense mutations using PolyPhen-2. Curr. Protoc. Hum. Genet. Chapter 7, unit 7.20 (2013).
    • (2013) Curr. Protoc. Hum. Genet.
    • Adzhubei, I.1    Jordan, D.M.2    Sunyaev, S.R.3
  • 62
    • 0032076955 scopus 로고    scopus 로고
    • Actin mutations in dilated cardiomyopathy, a heritable form of heart failure
    • Olson, T. M., Michels, V. V., Thibodeau, S. N., Tai, Y. S. & Keating, M. T. Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science 280, 750-752 (1998).
    • (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
  • 63
    • 33947727990 scopus 로고    scopus 로고
    • Prevalence of desmin mutations in dilated cardiomyopathy
    • Taylor, M. R. et al. Prevalence of desmin mutations in dilated cardiomyopathy. Circulation 115, 1244-1251 (2007).
    • (2007) Circulation , vol.115 , pp. 1244-1251
    • Taylor, M.R.1
  • 64
    • 0142058043 scopus 로고    scopus 로고
    • Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis
    • Mohapatra, B. et al. Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis. Mol. Genet. Metab. 80, 207-215 (2003).
    • (2003) Mol. Genet. Metab. , vol.80 , pp. 207-215
    • Mohapatra, B.1
  • 65
    • 69949137801 scopus 로고    scopus 로고
    • Mutations in the ANKRD1 gene encoding CARP are responsible for human dilated cardiomyopathy
    • Duboscq-Bidot, L. et al. Mutations in the ANKRD1 gene encoding CARP are responsible for human dilated cardiomyopathy. Eur. Heart J. 30, 2128-2136 (2009).
    • (2009) Eur. Heart J. , vol.30 , pp. 2128-2136
    • Duboscq-Bidot, L.1
  • 66
    • 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, R. E. 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. 1, 21-26 (2008).
    • (2008) Clin. Transl. Sci. , vol.1 , pp. 21-26
    • Hershberger, R.E.1
  • 67
    • 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. et al. The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy. Cell 111, 943-955 (2002).
    • (2002) Cell , vol.111 , pp. 943-955
    • Knoll, R.1
  • 68
    • 0036401384 scopus 로고    scopus 로고
    • Novel mutations in sarcomeric protein genes in dilated cardiomyopathy
    • Daehmlow, S. et al. Novel mutations in sarcomeric protein genes in dilated cardiomyopathy. Biochem. Biophys. Res. Commun. 298, 116-120 (2002).
    • (2002) Biochem. Biophys. Res. Commun. , vol.298 , pp. 116-120
    • Daehmlow, S.1
  • 69
    • 77949898544 scopus 로고    scopus 로고
    • A glimpse into multigene rare variant genetics: Triple mutations in hypertrophic cardiomyopathy
    • Hershberger, R. E. A glimpse into multigene rare variant genetics: triple mutations in hypertrophic cardiomyopathy. J. Am. Coll. Cardiol. 55, 1454-1455 (2010).
    • (2010) J. Am. Coll. Cardiol. , vol.55 , pp. 1454-1455
    • Hershberger, R.E.1
  • 70
    • 21844463045 scopus 로고    scopus 로고
    • Alpha-myosin heavy chain: A sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy
    • Carniel, E. et al. Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy. Circulation 112, 54-59 (2005).
    • (2005) Circulation , vol.112 , pp. 54-59
    • Carniel, E.1
  • 71
    • 0034619996 scopus 로고    scopus 로고
    • Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy
    • Kamisago, M. et al. Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N. Engl. J. Med. 343, 1688-1696 (2000).
    • (2000) N. Engl. J. Med. , vol.343 , pp. 1688-1696
    • Kamisago, M.1
  • 72
    • 17444407002 scopus 로고    scopus 로고
    • Mutation screening in dilated cardiomyopathy: Prominent role of the beta myosin heavy chain gene
    • Villard, E. et al. Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. Eur. Heart J. 26, 794-803 (2005).
    • (2005) Eur. Heart J. , vol.26 , pp. 794-803
    • Villard, E.1
  • 73
    • 38849132943 scopus 로고    scopus 로고
    • Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy
    • Duboscq-Bidot, L. et al. Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy. Cardiovasc. Res. 77, 118-125 (2008).
    • (2008) Cardiovasc. Res. , vol.77 , pp. 118-125
    • Duboscq-Bidot, L.1
  • 74
    • 9644281144 scopus 로고    scopus 로고
    • Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy
    • Hayashi, T. et al. Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy. J. Am. Coll. Cardiol. 44, 2192-2201 (2004).
    • (2004) J. Am. Coll. Cardiol. , vol.44 , pp. 2192-2201
    • Hayashi, T.1
  • 75
    • 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. E. et al. Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. Circ. Cardiovasc. Genet. 3, 155-161 (2010).
    • (2010) Circ. Cardiovasc. Genet. , vol.3 , pp. 155-161
    • Hershberger, R.E.1
  • 76
    • 8144224216 scopus 로고    scopus 로고
    • Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy
    • Mogensen, J. et al. Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. J. Am. Coll. Cardiol. 44, 2033-2040 (2004).
    • (2004) J. Am. Coll. Cardiol. , vol.44 , pp. 2033-2040
    • Mogensen, J.1
  • 77
    • 0842283230 scopus 로고    scopus 로고
    • Novel mutation in cardiac troponin i in recessive idiopathic dilated cardiomyopathy
    • Murphy, R. T. et al. Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy. Lancet 363, 371-372 (2004).
    • (2004) Lancet , vol.363 , pp. 371-372
    • Murphy, R.T.1
  • 78
    • 70349250125 scopus 로고    scopus 로고
    • Identification and functional characterization of cardiac troponin i as a novel disease gene in autosomal dominant dilated cardiomyopathy
    • Carballo, S. et al. Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy. Circ. Res. 105, 375-382 (2009).
    • (2009) Circ. Res. , vol.105 , pp. 375-382
    • Carballo, S.1
  • 79
    • 0035975958 scopus 로고    scopus 로고
    • Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy
    • Li, D. et al. Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy. Circulation 104, 2188-2193 (2001).
    • (2001) Circulation , vol.104 , pp. 2188-2193
    • Li, D.1
  • 80
    • 70349628869 scopus 로고    scopus 로고
    • The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy
    • Moller, D. V. et al. The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy. Eur. J. Hum. Genet. 17, 1241-1249 (2009).
    • (2009) Eur. J. Hum. Genet. , vol.17 , pp. 1241-1249
    • Moller, D.V.1
  • 81
    • 0034971165 scopus 로고    scopus 로고
    • Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy
    • Olson, T. M., Kishimoto, N. Y., Whitby, F. G. & Michels, V. V. Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy. J. Mol. Cell. Cardiol. 33, 723-732 (2001).
    • (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
  • 82
    • 74049128182 scopus 로고    scopus 로고
    • Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: The distinctive natural history of sarcomeric dilated cardiomyopathy
    • Lakdawala, N. K. et al. Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy. J. Am. Coll. Cardiol. 55, 320-329 (2010).
    • (2010) J. Am. Coll. Cardiol. , vol.55 , pp. 320-329
    • Lakdawala, N.K.1
  • 83
    • 33744495726 scopus 로고    scopus 로고
    • Identification of a novel frameshift mutation in the giant muscle filament titin in a large Australian family with dilated cardiomyopathy
    • Gerull, B. et al. Identification of a novel frameshift mutation in the giant muscle filament titin in a large Australian family with dilated cardiomyopathy. J. Mol. Med. 84, 478-483 (2006).
    • (2006) J. Mol. Med. , vol.84 , pp. 478-483
    • Gerull, B.1
  • 84
    • 0033730389 scopus 로고    scopus 로고
    • Epidemiology of desmin and cardiac actin gene mutations in a European population of dilated cardiomyopathy
    • Tesson, F. et al. Epidemiology of desmin and cardiac actin gene mutations in a European population of dilated cardiomyopathy. Eur. Heart J. 21, 1872-1876 (2000).
    • (2000) Eur. Heart J. , vol.21 , pp. 1872-1876
    • Tesson, F.1
  • 85
    • 0033520037 scopus 로고    scopus 로고
    • Desmin mutation responsible for idiopathic dilated cardiomyopathy
    • Li, D. et al. Desmin mutation responsible for idiopathic dilated cardiomyopathy. Circulation 100, 461-464 (1999).
    • (1999) Circulation , vol.100 , pp. 461-464
    • Li, D.1
  • 86
    • 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. et al. X-linked dilated cardiomyopathy: molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus. Circulation 87, 1854-1865 (1993).
    • (1993) Circulation , vol.87 , pp. 1854-1865
    • Towbin, J.A.1
  • 87
    • 0027265702 scopus 로고
    • Deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy
    • Muntoni, F. et al. Deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy. N. Engl. J. Med. 329, 921-925 (1993).
    • (1993) N. Engl. J. Med. , vol.329 , pp. 921-925
    • Muntoni, F.1
  • 88
    • 34548407064 scopus 로고    scopus 로고
    • Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells
    • Knoll, R. et al. Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells. Circulation 116, 515-525 (2007).
    • (2007) Circulation , vol.116 , pp. 515-525
    • Knoll, R.1
  • 89
    • 0344873698 scopus 로고    scopus 로고
    • Mutations in cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction
    • Vatta, M. et al. Mutations in cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. J. Am. Coll. Cardiol. 42, 2014-2027 (2003).
    • (2003) J. Am. Coll. Cardiol. , vol.42 , pp. 2014-2027
    • Vatta, M.1
  • 90
    • 33947593150 scopus 로고    scopus 로고
    • Mutations in PDLIM3 and MYOZ1 encoding myocyte Z line proteins are infrequently found in idiopathic dilated cardiomyopathy
    • Arola, A. M. et al. Mutations in PDLIM3 and MYOZ1 encoding myocyte Z line proteins are infrequently found in idiopathic dilated cardiomyopathy. Mol. Genet. Metab. 90, 435-440 (2007).
    • (2007) Mol. Genet. Metab. , vol.90 , pp. 435-440
    • Arola, A.M.1
  • 91
    • 0346725874 scopus 로고    scopus 로고
    • A novel mutation, Arg71Thr, in the delta-sarcoglycan gene is associated with dilated cardiomyopathy
    • Karkkainen, S. et al. A novel mutation, Arg71Thr, in the delta-sarcoglycan gene is associated with dilated cardiomyopathy. J. Mol. Med. (Berl.) 81, 795-800 (2003).
    • (2003) J. Mol. Med. (Berl.) , vol.81 , pp. 795-800
    • Karkkainen, S.1
  • 92
    • 0033818186 scopus 로고    scopus 로고
    • Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy
    • Tsubata, S. et al. Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. J. Clin. Invest. 106, 655-662 (2000).
    • (2000) J. Clin. Invest. , vol.106 , pp. 655-662
    • Tsubata, S.1
  • 93
    • 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. 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. A 120A, 8-12 (2003).
    • (2003) Am. J. Med. Genet. A , vol.120 A , pp. 8-12
    • Sylvius, N.1
  • 94
    • 0037192309 scopus 로고    scopus 로고
    • Metavinculin mutations alter actin interaction in dilated cardiomyopathy
    • Olson, T. M. et al. Metavinculin mutations alter actin interaction in dilated cardiomyopathy. Circulation 105, 431-437 (2002).
    • (2002) Circulation , vol.105 , pp. 431-437
    • Olson, T.M.1
  • 95
    • 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. 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. 341, 1715-1724 (1999).
    • (1999) N. Engl. J. Med. , vol.341 , pp. 1715-1724
    • Fatkin, D.1
  • 96
    • 0034620567 scopus 로고    scopus 로고
    • Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement
    • Brodsky, G. L. et al. Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. Circulation 101, 473-476 (2000).
    • (2000) Circulation , vol.101 , pp. 473-476
    • Brodsky, G.L.1
  • 97
    • 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, H. M. et al. High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation. Pacing Clin. Electrophysiol. 23, 1661-1666 (2000).
    • (2000) Pacing Clin. Electrophysiol. , vol.23 , pp. 1661-1666
    • Becane, H.M.1
  • 98
    • 0034820958 scopus 로고    scopus 로고
    • Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease
    • Jakobs, P. M. et al. Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease. J. Card. Fail. 7, 249-256 (2001).
    • (2001) J. Card. Fail. , vol.7 , pp. 249-256
    • Jakobs, P.M.1
  • 99
    • 18344380431 scopus 로고    scopus 로고
    • Autosomal dominant dilated cardiomyopathy with atrioventricular block: A lamin A/C defect-related disease
    • Arbustini, E. et al. Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease. J. Am. Coll. Cardiol. 39, 981-990 (2002).
    • (2002) J. Am. Coll. Cardiol. , vol.39 , pp. 981-990
    • Arbustini, E.1
  • 100
    • 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, R. E. 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. 144, 1081-1086 (2002).
    • (2002) Am. Heart J. , vol.144 , pp. 1081-1086
    • Hershberger, R.E.1
  • 101
    • 0037420074 scopus 로고    scopus 로고
    • Natural history of dilated cardiomyopathy due to lamin A/C gene mutations
    • Taylor, M. R. et al. Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. J. Am. Coll. Cardiol. 41, 771-780 (2003).
    • (2003) J. Am. Coll. Cardiol. , vol.41 , pp. 771-780
    • Taylor, M.R.1
  • 102
    • 0042327845 scopus 로고    scopus 로고
    • Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations
    • Sebillon, P. et al. Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations. J. Med. Genet. 40, 560-567 (2003).
    • (2003) J. Med. Genet. , vol.40 , pp. 560-567
    • Sebillon, P.1
  • 103
    • 2542423005 scopus 로고    scopus 로고
    • Lamin A/C truncation in dilated cardiomyopathy with conduction disease
    • MacLeod, H. M., Culley, M. R., Huber, J. M. & McNally, E. M. Lamin A/C truncation in dilated cardiomyopathy with conduction disease. BMC Med. Genet. 4, 4 (2003).
    • (2003) BMC Med. Genet. , vol.4 , pp. 4
    • Macleod, H.M.1    Culley, M.R.2    Huber, J.M.3    McNally, E.M.4
  • 104
    • 0035168177 scopus 로고    scopus 로고
    • A new locus for autosomal dominant dilated cardiomyopathy identified on chromosome 6q12-q16
    • Sylvius, N. et al. A new locus for autosomal dominant dilated cardiomyopathy identified on chromosome 6q12-q16. Am. J. Hum. Genet. 68, 241-246 (2001).
    • (2001) Am. J. Hum. Genet. , vol.68 , pp. 241-246
    • Sylvius, N.1
  • 105
    • 14044257791 scopus 로고    scopus 로고
    • LMNA mutations in cardiac transplant recipients
    • Pethig, K. et al. LMNA mutations in cardiac transplant recipients. Cardiology 103, 57-62 (2005).
    • (2005) Cardiology , vol.103 , pp. 57-62
    • Pethig, K.1
  • 106
    • 33645224459 scopus 로고    scopus 로고
    • Novel mutations in the lamin A/C gene in heart transplant recipients with end stage dilated cardiomyopathy
    • Karkkainen, S. et al. Novel mutations in the lamin A/C gene in heart transplant recipients with end stage dilated cardiomyopathy. Heart 92, 524-526 (2006).
    • (2006) Heart , vol.92 , pp. 524-526
    • Karkkainen, S.1
  • 107
    • 28844466695 scopus 로고    scopus 로고
    • Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy
    • Taylor, M. R. et al. Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy. Hum. Mutat. 26, 566-574 (2005).
    • (2005) Hum. Mutat. , vol.26 , pp. 566-574
    • Taylor, M.R.1
  • 108
    • 33845217332 scopus 로고    scopus 로고
    • Mutations of presenilin genes in dilated cardiomyopathy and heart failure
    • Li, D. et al. Mutations of presenilin genes in dilated cardiomyopathy and heart failure. Am. J. Hum. Genet. 79, 1030-1039 (2006).
    • (2006) Am. J. Hum. Genet. , vol.79 , pp. 1030-1039
    • Li, D.1
  • 109
    • 5644229494 scopus 로고    scopus 로고
    • SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia
    • McNair, W. P. et al. SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia. Circulation 110, 2163-2167 (2004).
    • (2004) Circulation , vol.110 , pp. 2163-2167
    • McNair, W.P.1
  • 110
    • 12544257550 scopus 로고    scopus 로고
    • Sodium channel mutations and susceptibility to heart failure and atrial fibrillation
    • Olson, T. M. et al. Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. JAMA 293, 447-454 (2005).
    • (2005) JAMA , vol.293 , pp. 447-454
    • Olson, T.M.1
  • 111
    • 16944366521 scopus 로고    scopus 로고
    • The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies
    • D'Adamo, P. et al. The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. Am. J. Hum. Genet. 61, 862-867 (1997).
    • (1997) Am. J. Hum. Genet. , vol.61 , pp. 862-867
    • D'adamo, P.1
  • 112
    • 0029963145 scopus 로고    scopus 로고
    • A novel X-linked gene, G4.5., is responsible for
    • Barth syndrome
    • Bione, S. et al. A novel X-linked gene, G4.5., is responsible for Barth syndrome. Nat. Genet. 12, 385-389 (1996).
    • (1996) Nat. Genet. , vol.12 , pp. 385-389
    • Bione, S.1
  • 113
    • 68949191192 scopus 로고    scopus 로고
    • Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy
    • Brauch, K. M. et al. Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. J. Am. Coll. Cardiol. 54, 930-941 (2009).
    • (2009) J. Am. Coll. Cardiol. , vol.54 , pp. 930-941
    • Brauch, K.M.1
  • 114
    • 77957270156 scopus 로고    scopus 로고
    • Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy
    • Li, D. et al. Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy. Clin. Transl. Sci. 3, 90-97 (2010).
    • (2010) Clin. Transl. Sci. , vol.3 , pp. 90-97
    • Li, D.1
  • 115
    • 0037470512 scopus 로고    scopus 로고
    • Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban
    • Schmitt, J. P. et al. Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. Science 299, 1410-1413 (2003).
    • (2003) Science , vol.299 , pp. 1410-1413
    • Schmitt, J.P.1
  • 116
    • 31944450889 scopus 로고    scopus 로고
    • A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy
    • Haghighi, K. et al. A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. Proc. Natl Acad. Sci. USA 103, 1388-1393 (2006).
    • (2006) Proc. Natl Acad. Sci. USA , vol.103 , pp. 1388-1393
    • Haghighi, K.1
  • 117
    • 33748950069 scopus 로고    scopus 로고
    • Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy
    • DeWitt, M. M., MacLeod, H. M., Soliven, B. & McNally, E. M. Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy. J. Am. Coll. Cardiol. 48, 1396-1398 (2006).
    • (2006) J. Am. Coll. Cardiol. , vol.48 , pp. 1396-1398
    • Dewitt, M.M.1    Macleod, H.M.2    Soliven, B.3    McNally, E.M.4
  • 118
    • 33846095295 scopus 로고    scopus 로고
    • Mutational screening of phospholamban gene in hypertrophic and idiopathic dilated cardiomyopathy and functional study of the PLN -42 C>G mutation
    • Medin, M. et al. Mutational screening of phospholamban gene in hypertrophic and idiopathic dilated cardiomyopathy and functional study of the PLN -42 C>G mutation. Eur. J. Heart Fail. 9, 37-43 (2007).
    • (2007) Eur. J. Heart Fail. , vol.9 , pp. 37-43
    • Medin, M.1
  • 119
    • 84860389640 scopus 로고    scopus 로고
    • Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: A clinicopathological study
    • Garcia-Pavia, P. et al. Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study. Heart 97, 1744-1752 (2011).
    • (2011) Heart , vol.97 , pp. 1744-1752
    • Garcia-Pavia, P.1
  • 120
    • 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. 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. 88, 273-282 (2011).
    • (2011) Am. J. Hum. Genet. , vol.88 , pp. 273-282
    • Norton, N.1
  • 121
    • 80052186988 scopus 로고    scopus 로고
    • A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy
    • Villard, E. et al. A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy. Eur. Heart J. 32, 1065-1076 (2011).
    • (2011) Eur. Heart J. , vol.32 , pp. 1065-1076
    • Villard, E.1
  • 122
    • 33344474711 scopus 로고    scopus 로고
    • Alpha B-crystallin mutation in dilated cardiomyopathy
    • Inagaki, N. et al. Alpha B-crystallin mutation in dilated cardiomyopathy. Biochem. Biophys. Res. Commun. 342, 379-386 (2006).
    • (2006) Biochem. Biophys. Res. Commun. , vol.342 , pp. 379-386
    • Inagaki, N.1
  • 123
    • 20144387707 scopus 로고    scopus 로고
    • Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss
    • Schonberger, J. et al. Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss. Nat. Genet. 37, 418-422 (2005).
    • (2005) Nat. Genet. , vol.37 , pp. 418-422
    • Schonberger, J.1
  • 127
    • 84872143942 scopus 로고    scopus 로고
    • Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
    • Fu, W. et al. Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature 493, 216-220 (2013).
    • (2013) Nature , vol.493 , pp. 216-220
    • Fu, W.1
  • 128
    • 0026629099 scopus 로고
    • Prevalence and etiology of idiopathic dilated cardiomyopathy (summary of a National Heart, Lung, and Blood Institute workshop)
    • Manolio, T. A. et al. Prevalence and etiology of idiopathic dilated cardiomyopathy (summary of a National Heart, Lung, and Blood Institute workshop). Am. J. Cardiol. 69, 1458-1466 (1992).
    • (1992) Am. J. Cardiol. , vol.69 , pp. 1458-1466
    • Manolio, T.A.1
  • 129
    • 84888204866 scopus 로고    scopus 로고
    • Immune-mediated and autoimmune myocarditis: Clinical presentation, diagnosis and management
    • Caforio, A. L. et al. Immune-mediated and autoimmune myocarditis: clinical presentation, diagnosis and management. Heart Fail. Rev. http://dx.doi.org/10.1007/s10741-012-9364-5.
    • Heart Fail. Rev.
    • Caforio, A.L.1
  • 130
    • 77449104814 scopus 로고    scopus 로고
    • Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy
    • Hershberger, R. E. et al. Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy. Circ. Cardiovasc. Genet. 2, 306-313 (2009).
    • (2009) Circ. Cardiovasc. Genet. , vol.2 , pp. 306-313
    • Hershberger, R.E.1


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