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Volumn 18, Issue 5, 2012, Pages 396-403

Pediatric cardiomyopathy: Importance of genetic and metabolic evaluation

Author keywords

Cardiomyopathy; genetic testing; genetics; heart failure; mutation

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CHILDHOOD DISEASE; ECHOCARDIOGRAPHY; FEMALE; GENE MUTATION; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; INFANT; MAJOR CLINICAL STUDY; MALE; METABOLIC DISORDER; PREVALENCE; PRIORITY JOURNAL; SYNDROME;

EID: 84860457415     PISSN: 10719164     EISSN: 15328414     Source Type: Journal    
DOI: 10.1016/j.cardfail.2012.01.017     Document Type: Article
Times cited : (106)

References (31)
  • 1
    • 0030813394 scopus 로고    scopus 로고
    • Epidemiology of idiopathic cardiomyopathies in children and adolescents. A nationwide study in Finland
    • A. Arola, E. Jokinen, O. Ruuskanen, M. Saraste, E. Pesonen, and A.L. Kuusela Epidemiology of idiopathic cardiomyopathies in children and adolescents. A nationwide study in Finland Am J Epidemiol 146 1997 385 393
    • (1997) Am J Epidemiol , vol.146 , pp. 385-393
    • Arola, A.1    Jokinen, E.2    Ruuskanen, O.3    Saraste, M.4    Pesonen, E.5    Kuusela, A.L.6
  • 2
    • 33845720299 scopus 로고    scopus 로고
    • Clinical features and outcomes of childhood dilated cardiomyopathy: Results from a national population-based study
    • P.E. Daubeney, A.W. Nugent, P. Chondros, J.B. Carlin, S.D. Colan, and M. Cheung Clinical features and outcomes of childhood dilated cardiomyopathy: results from a national population-based study Circulation 114 2006 2671 2678
    • (2006) Circulation , vol.114 , pp. 2671-2678
    • Daubeney, P.E.1    Nugent, A.W.2    Chondros, P.3    Carlin, J.B.4    Colan, S.D.5    Cheung, M.6
  • 3
    • 33750121615 scopus 로고    scopus 로고
    • Incidence, causes, and outcomes of dilated cardiomyopathy in children
    • J.A. Towbin, A.M. Lowe, S.D. Colan, L.A. Sleeper, E.J. Orav, and S. Clunie Incidence, causes, and outcomes of dilated cardiomyopathy in children JAMA 296 2006 1867 1876
    • (2006) JAMA , vol.296 , pp. 1867-1876
    • Towbin, J.A.1    Lowe, A.M.2    Colan, S.D.3    Sleeper, L.A.4    Orav, E.J.5    Clunie, S.6
  • 4
    • 33847103768 scopus 로고    scopus 로고
    • Epidemiology and cause-specific outcome of hypertrophic cardiomyopathy in children: Findings from the Pediatric Cardiomyopathy Registry
    • S.D. Colan, S.E. Lipshultz, A.M. Lowe, L.A. Sleeper, J. Messere, and G.F. Cox Epidemiology and cause-specific outcome of hypertrophic cardiomyopathy in children: findings from the Pediatric Cardiomyopathy Registry Circulation 115 2007 773 781
    • (2007) Circulation , vol.115 , pp. 773-781
    • Colan, S.D.1    Lipshultz, S.E.2    Lowe, A.M.3    Sleeper, L.A.4    Messere, J.5    Cox, G.F.6
  • 5
    • 0033953776 scopus 로고    scopus 로고
    • Design and implementation of the North American Pediatric Cardiomyopathy Registry
    • M.A. Grenier, S.K. Osganian, G.F. Cox, J.A. Towbin, S.D. Colan, and P.R. Lurie Design and implementation of the North American Pediatric Cardiomyopathy Registry Am Heart J 139 2 Pt 3 2000 S86 S95
    • (2000) Am Heart J , vol.139 , Issue.2 PART 3
    • Grenier, M.A.1    Osganian, S.K.2    Cox, G.F.3    Towbin, J.A.4    Colan, S.D.5    Lurie, P.R.6
  • 7
    • 71649109002 scopus 로고    scopus 로고
    • Use of genetics in the clinical evaluation of cardiomyopathy
    • D.P. Judge Use of genetics in the clinical evaluation of cardiomyopathy JAMA 302 2009 2471 2476
    • (2009) JAMA , vol.302 , pp. 2471-2476
    • Judge, D.P.1
  • 9
    • 67649854428 scopus 로고    scopus 로고
    • Diagnostic, prognostic, and therapeutic implications of genetic testing for hypertrophic cardiomyopathy
    • J.M. Bos, J.A. Towbin, and M.J. Ackerman Diagnostic, prognostic, and therapeutic implications of genetic testing for hypertrophic cardiomyopathy J Am Coll Cardiol 54 2009 201 211
    • (2009) J Am Coll Cardiol , vol.54 , pp. 201-211
    • Bos, J.M.1    Towbin, J.A.2    Ackerman, M.J.3
  • 10
    • 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
    • B.J. Maron, J.A. Towbin, G. Thiene, C. Antzelevitch, D. Corrado, and D. Arnett 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 2006 1807 1816
    • (2006) Circulation , vol.113 , pp. 1807-1816
    • Maron, B.J.1    Towbin, J.A.2    Thiene, G.3    Antzelevitch, C.4    Corrado, D.5    Arnett, D.6
  • 11
    • 34250769985 scopus 로고    scopus 로고
    • Phenotypic plasticity of sarcomeric protein mutations
    • A.J. Marian Phenotypic plasticity of sarcomeric protein mutations J Am Coll Cardiol 49 2007 2427 2429
    • (2007) J Am Coll Cardiol , vol.49 , pp. 2427-2429
    • Marian, A.J.1
  • 12
    • 39749103537 scopus 로고    scopus 로고
    • Sarcomeric proteins and inherited cardiomyopathies
    • S. Morimoto Sarcomeric proteins and inherited cardiomyopathies Cardiovasc Res 77 2008 659 666
    • (2008) Cardiovasc Res , vol.77 , pp. 659-666
    • Morimoto, S.1
  • 14
    • 54449102251 scopus 로고    scopus 로고
    • Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sacrcomere protein genes
    • J.P. Kaski, P. Syrris, M. Burch, M.T. Tomé-Esteban, and M. Fenton Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sacrcomere protein genes Heart 94 2008 1478 1484
    • (2008) Heart , vol.94 , pp. 1478-1484
    • Kaski, J.P.1    Syrris, P.2    Burch, M.3    Tomé-Esteban, M.T.4    Fenton, M.5
  • 15
    • 0037238265 scopus 로고    scopus 로고
    • Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin i mutations
    • J. Mogensen, T. Kubo, M. Duque, W. Uribe, A. Shaw, and R. Murphy Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations J Clin Invest 111 2003 209 216
    • (2003) J Clin Invest , vol.111 , pp. 209-216
    • Mogensen, J.1    Kubo, T.2    Duque, M.3    Uribe, W.4    Shaw, A.5    Murphy, R.6
  • 16
    • 38349125429 scopus 로고    scopus 로고
    • Pediatric restrictive cardiomyopathy associated with a mutation in beta-myosin heavy chain
    • S.M. Ware, M.E. Quinn, E.T. Ballard, E. Miller, K. Uzark, and R.L. Spicer Pediatric restrictive cardiomyopathy associated with a mutation in beta-myosin heavy chain Clin Genet 73 2008 165 170
    • (2008) Clin Genet , vol.73 , pp. 165-170
    • Ware, S.M.1    Quinn, M.E.2    Ballard, E.T.3    Miller, E.4    Uzark, K.5    Spicer, R.L.6
  • 17
    • 33646058879 scopus 로고    scopus 로고
    • Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity
    • Y. Xing, F. Ichida, T. Matsuoka, T. Isobe, Y. Ikemoto, and T. Higaki Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity Mol Genet Metab 88 2006 71 77
    • (2006) Mol Genet Metab , vol.88 , pp. 71-77
    • Xing, Y.1    Ichida, F.2    Matsuoka, T.3    Isobe, T.4    Ikemoto, Y.5    Higaki, T.6
  • 20
    • 77949902017 scopus 로고    scopus 로고
    • Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy
    • J.P. Kaski, P. Syrris, M.T. Esteban, S. Jenkins, A. Pantazis, and J.E. Deanfield Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy Circ Cardiovasc Genet 2 2009 436 441
    • (2009) Circ Cardiovasc Genet , vol.2 , pp. 436-441
    • Kaski, J.P.1    Syrris, P.2    Esteban, M.T.3    Jenkins, S.4    Pantazis, A.5    Deanfield, J.E.6
  • 21
    • 67651031014 scopus 로고    scopus 로고
    • A child cohort study from southern Italy enlarges the genetic spectrum of hypertrophic cardiomyopathy
    • G. Frisso, G. Limongelli, G. Pacileo, A. Del Giudice, L. Forgione, and P. Calabro A child cohort study from southern Italy enlarges the genetic spectrum of hypertrophic cardiomyopathy Clin Genet 76 2009 91 101
    • (2009) Clin Genet , vol.76 , pp. 91-101
    • Frisso, G.1    Limongelli, G.2    Pacileo, G.3    Del Giudice, A.4    Forgione, L.5    Calabro, P.6
  • 23
    • 0034951326 scopus 로고    scopus 로고
    • Clinical spectrum and diagnosis of mitochondrial disorders
    • A. Munnich, and P. Rustin Clinical spectrum and diagnosis of mitochondrial disorders Am J Med Genet 106 2001 4 17
    • (2001) Am J Med Genet , vol.106 , pp. 4-17
    • Munnich, A.1    Rustin, P.2
  • 24
    • 0029763025 scopus 로고    scopus 로고
    • Respiratory chain encephalomyopathies: A diagnostic classification
    • U.A. Walker, S. Collins, and E. Byrne Respiratory chain encephalomyopathies: a diagnostic classification Eur Neurol 36 1996 260 267
    • (1996) Eur Neurol , vol.36 , pp. 260-267
    • Walker, U.A.1    Collins, S.2    Byrne, E.3
  • 25
    • 0026561254 scopus 로고
    • Grading the severity of congestive heart failure in infants
    • R.D. Ross, R.O. Bollinger, and W.W. Pinsky Grading the severity of congestive heart failure in infants Pediatr Cardiol 13 1992 72 75
    • (1992) Pediatr Cardiol , vol.13 , pp. 72-75
    • Ross, R.D.1    Bollinger, R.O.2    Pinsky, W.W.3
  • 26
    • 19944419454 scopus 로고    scopus 로고
    • International Society for Heart and Lung Transplantation: Practice guidelines for management of heart failure in children
    • D. Rosenthal, M.R. Chrisant, E. Edens, L. Mahony, C. Canter, and S. Colan International Society for Heart and Lung Transplantation: practice guidelines for management of heart failure in children J Heart Lung Transplant 23 2004 1313 1333
    • (2004) J Heart Lung Transplant , vol.23 , pp. 1313-1333
    • Rosenthal, D.1    Chrisant, M.R.2    Edens, E.3    Mahony, L.4    Canter, C.5    Colan, S.6
  • 27
    • 29244432482 scopus 로고    scopus 로고
    • Recommendations for chamber quantification: A report from the American Society of Echocardiography's Guidelines and Standards Committee and the Chamber Quantification Writing Group, developed in conjunction with the European Association of Echocardiography, a branch of the European Society of Cardiology
    • R.M. Lang, M. Bierig, R.B. Devereux, F.A. Flachskampf, E. Foster, and P.A. Pellikka Recommendations for chamber quantification: a report from the American Society of Echocardiography's Guidelines and Standards Committee and the Chamber Quantification Writing Group, developed in conjunction with the European Association of Echocardiography, a branch of the European Society of Cardiology J Am Soc Echocardiogr 18 2005 1440 1463
    • (2005) J Am Soc Echocardiogr , vol.18 , pp. 1440-1463
    • Lang, R.M.1    Bierig, M.2    Devereux, R.B.3    Flachskampf, F.A.4    Foster, E.5    Pellikka, P.A.6
  • 28
    • 10744231880 scopus 로고    scopus 로고
    • ACC/AHA/ASE 2003 guideline update for the clinical application of echocardiography: Summary article. A report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (ACC/AHA/ASE Committee to Update the 1997 Guidelines for the Clinical Application of Echocardiography)
    • M.D. Cheitlin, W.F. Armstrong, G.P. Aurigemma, G.A. Beller, F.Z. Bierman, and J.L. Davis ACC/AHA/ASE 2003 guideline update for the clinical application of echocardiography: summary article. A report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (ACC/AHA/ASE Committee to Update the 1997 Guidelines for the Clinical Application of Echocardiography) J Am Soc Echocardiogr 16 2003 1091 1110
    • (2003) J Am Soc Echocardiogr , vol.16 , pp. 1091-1110
    • Cheitlin, M.D.1    Armstrong, W.F.2    Aurigemma, G.P.3    Beller, G.A.4    Bierman, F.Z.5    Davis, J.L.6
  • 29
    • 77949881591 scopus 로고    scopus 로고
    • Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations
    • F. Girolami, C.Y. Ho, C. Semsarian, M. Baldi, M.L. Will, and K. Baldini Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations J Am Coll Cardiol 55 2010 1444 1453
    • (2010) J Am Coll Cardiol , vol.55 , pp. 1444-1453
    • Girolami, F.1    Ho, C.Y.2    Semsarian, C.3    Baldi, M.4    Will, M.L.5    Baldini, K.6
  • 30
    • 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
    • R.E. Hershberger, N. Norton, A. Morales, D. Li, J.D. Siegfried, and J. Gonzalez-Quintana 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 2010 155 161
    • (2010) Circ Cardiovasc Genet , vol.3 , pp. 155-161
    • Hershberger, R.E.1    Norton, N.2    Morales, A.3    Li, D.4    Siegfried, J.D.5    Gonzalez-Quintana, J.6
  • 31
    • 78649631986 scopus 로고    scopus 로고
    • Clinical and genetic issues in dilated cardiomyopathy: A review for genetics professionals
    • R.E. Hershberger, A. Morales, and J.D. Siegfried Clinical and genetic issues in dilated cardiomyopathy: a review for genetics professionals Genet Med 12 2010 655 667
    • (2010) Genet Med , vol.12 , pp. 655-667
    • Hershberger, R.E.1    Morales, A.2    Siegfried, J.D.3


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