메뉴 건너뛰기




Volumn 358, Issue 18, 2008, Pages 1899-1908

Shared genetic causes of cardiac hypertrophy in children and adults

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA TROPOMYOSIN; LYSOSOME ASSOCIATED MEMBRANE PROTEIN 2; MUSCLE PROTEIN; PROTEIN; PROTEIN ACTC; PROTEIN MYBPC3; PROTEIN MYH7; PROTEIN MYL2; PROTEIN MYL3; PROTEIN PRKAG2; PROTEIN TNNI3; PROTEIN TNNT2;

EID: 42949149810     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa075463     Document Type: Article
Times cited : (329)

References (38)
  • 1
    • 0345636017 scopus 로고    scopus 로고
    • The incidence of pediatric cardiomyopathy in two regions of the United States.
    • SE Lipshultz LA Sleeper JA Towbin The incidence of pediatric cardiomyopathy in two regions of the United States. N Engl J Med 348 2003 1647 1655
    • (2003) N Engl J Med , vol.348 , pp. 1647-1655
    • Lipshultz, SE1    Sleeper, LA2    Towbin, JA3
  • 2
    • 0037464530 scopus 로고    scopus 로고
    • The epidemiology of childhood cardiomyopathy in Australia.
    • AW Nugent PE Daubeney P Chondros The epidemiology of childhood cardiomyopathy in Australia. N Engl J Med 348 2003 1639 1646
    • (2003) N Engl J Med , vol.348 , pp. 1639-1646
    • Nugent, AW1    Daubeney, PE2    Chondros, P3
  • 3
    • 24644468556 scopus 로고    scopus 로고
    • Clinical features and outcomes of childhood hypertrophic cardiomyopathy: results from a national population-based study.
    • AW Nugent PE Daubeney P Chondros Clinical features and outcomes of childhood hypertrophic cardiomyopathy: results from a national population-based study. Circulation 112 2005 1332 1338
    • (2005) Circulation , vol.112 , pp. 1332-1338
    • Nugent, AW1    Daubeney, PE2    Chondros, P3
  • 4
    • 33847103768 scopus 로고    scopus 로고
    • Epidemiology and cause-specific outcome of hypertrophic cardiomyopathy in children: findings from the Pediatric Cardiomyopathy Registry.
    • SD Colan SE Lipshultz AM Lowe 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, SD1    Lipshultz, SE2    Lowe, AM3
  • 5
    • 15344341336 scopus 로고    scopus 로고
    • Management of pediatric hypertrophic cardiomyopathy.
    • AT Yetman BW McCrindle Management of pediatric hypertrophic cardiomyopathy. Curr Opin Cardiol 20 2005 80 83
    • (2005) Curr Opin Cardiol , vol.20 , pp. 80-83
    • Yetman, AT1    McCrindle, BW2
  • 6
    • 4344607459 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy in childhood.
    • BJ Maron Hypertrophic cardiomyopathy in childhood. Pediatr Clin North Am 51 2004 1305 1346
    • (2004) Pediatr Clin North Am , vol.51 , pp. 1305-1346
    • Maron, BJ1
  • 7
    • 0035936792 scopus 로고    scopus 로고
    • The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms.
    • JG Seidman C Seidman The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms. Cell 104 2001 557 567
    • (2001) Cell , vol.104 , pp. 557-567
    • Seidman, JG1    Seidman, C2
  • 9
    • 34147182155 scopus 로고    scopus 로고
    • Myozenin 2 is a novel gene for human hypertrophic cardiomyopathy.
    • A Osio L Tan SN Chen Myozenin 2 is a novel gene for human hypertrophic cardiomyopathy. Circ Res 100 2007 766 768
    • (2007) Circ Res , vol.100 , pp. 766-768
    • Osio, A1    Tan, L2    Chen, SN3
  • 10
    • 0242522154 scopus 로고    scopus 로고
    • American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy: a report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines.
    • BJ Maron WJ McKenna GK Danielson American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy: a report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines. J Am Coll Cardiol 42 2003 1687 1713
    • (2003) J Am Coll Cardiol , vol.42 , pp. 1687-1713
    • Maron, BJ1    McKenna, WJ2    Danielson, GK3
  • 11
    • 0036167225 scopus 로고    scopus 로고
    • Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy.
    • M Arad DW Benson AR Perez-Atayde Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. J Clin Invest 109 2002 357 362
    • (2002) J Clin Invest , vol.109 , pp. 357-362
    • Arad, M1    Benson, DW2    Perez-Atayde, AR3
  • 12
    • 18944396765 scopus 로고    scopus 로고
    • Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency.
    • B Burwinkel JW Scott C Buhrer Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency. Am J Hum Genet 76 2005 1034 1049
    • (2005) Am J Hum Genet , vol.76 , pp. 1034-1049
    • Burwinkel, B1    Scott, JW2    Buhrer, C3
  • 13
    • 19944434362 scopus 로고    scopus 로고
    • Glycogen storage diseases presenting as hypertrophic cardiomyopathy.
    • M Arad BJ Maron JM Gorham Glycogen storage diseases presenting as hypertrophic cardiomyopathy. N Engl J Med 352 2005 362 372
    • (2005) N Engl J Med , vol.352 , pp. 362-372
    • Arad, M1    Maron, BJ2    Gorham, JM3
  • 14
    • 11344286209 scopus 로고    scopus 로고
    • The PTPN11 gene is not implicated in nonsyndromic hypertrophic cardiomyopathy.
    • AE Roberts B Hult HL Rehm The PTPN11 gene is not implicated in nonsyndromic hypertrophic cardiomyopathy. Am J Med Genet A 132 2005 333 334
    • (2005) Am J Med Genet A , vol.132 , pp. 333-334
    • Roberts, AE1    Hult, B2    Rehm, HL3
  • 15
    • 85120120598 scopus 로고    scopus 로고
    • CardioGenomics Project Web site. The program in genomics applications. Boston: NHLBI Program for Genomic Applications, Harvard Medical School, 2007. (Accessed April 7, 2008, at http://cardiogenomics.med.harvard.edu .)
  • 16
    • 85120119967 scopus 로고    scopus 로고
    • SAS-STAT user's guide: release 8.1. Cary, NC: SAS Institute, 2000.
  • 17
    • 0035173378 scopus 로고    scopus 로고
    • dbSNP: the NCBI database of genetic variation.
    • ST Sherry MH Ward M Kholodov dbSNP: the NCBI database of genetic variation. Nucleic Acids Res 29 2001 308 311
    • (2001) Nucleic Acids Res , vol.29 , pp. 308-311
    • Sherry, ST1    Ward, MH2    Kholodov, M3
  • 18
    • 4043081356 scopus 로고    scopus 로고
    • Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.
    • SL Van Driest MA Jaeger SR Ommen Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. J Am Coll Cardiol 44 2004 602 610
    • (2004) J Am Coll Cardiol , vol.44 , pp. 602-610
    • Van Driest, SL1    Jaeger, MA2    Ommen, SR3
  • 19
    • 0028352313 scopus 로고
    • Isolation of genes from complex sources of mammalian genomic DNA using exon amplification.
    • DM Church CJ Stotler JL Rutter JR Murrell JA Trofatter AJ Buckler Isolation of genes from complex sources of mammalian genomic DNA using exon amplification. Nat Genet 6 1994 98 105
    • (1994) Nat Genet , vol.6 , pp. 98-105
    • Church, DM1    Stotler, CJ2    Rutter, JL3    Murrell, JR4    Trofatter, JA5    Buckler, AJ6
  • 20
    • 0037454049 scopus 로고    scopus 로고
    • Haploinsufficiency in combination with aging causes SCN5A-linked hereditary Lenègre disease.
    • V Probst F Kyndt F Potet Haploinsufficiency in combination with aging causes SCN5A-linked hereditary Lenègre disease. J Am Coll Cardiol 41 2003 643 652
    • (2003) J Am Coll Cardiol , vol.41 , pp. 643-652
    • Probst, V1    Kyndt, F2    Potet, F3
  • 21
    • 0028844204 scopus 로고
    • Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy.
    • H Watkins D Conner L Thierfelder Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. Nat Genet 11 1995 434 437
    • (1995) Nat Genet , vol.11 , pp. 434-437
    • Watkins, H1    Conner, D2    Thierfelder, L3
  • 22
    • 33646757738 scopus 로고    scopus 로고
    • Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.
    • J Ingles A Doolan C Chiu J Seidman C Seidman C Semsarian Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. J Med Genet 42 2005 e59
    • (2005) J Med Genet , vol.42 , pp. e59
    • Ingles, J1    Doolan, A2    Chiu, C3    Seidman, J4    Seidman, C5    Semsarian, C6
  • 23
    • 0026573969 scopus 로고
    • Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy.
    • H Watkins A Rosenzweig DS Hwang Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Engl J Med 326 1992 1108 1114
    • (1992) N Engl J Med , vol.326 , pp. 1108-1114
    • Watkins, H1    Rosenzweig, A2    Hwang, DS3
  • 24
    • 0028140230 scopus 로고
    • Genotype-phenotype correlations in hypertrophic cardiomyopathy: insights provided by comparisons of kindreds with distinct and identical beta-myosin heavy chain gene mutations.
    • L Fananapazir ND Epstein Genotype-phenotype correlations in hypertrophic cardiomyopathy: insights provided by comparisons of kindreds with distinct and identical beta-myosin heavy chain gene mutations. Circulation 89 1994 22 32
    • (1994) Circulation , vol.89 , pp. 22-32
    • Fananapazir, L1    Epstein, ND2
  • 25
    • 0037058868 scopus 로고    scopus 로고
    • Prevalence and severity of “benign” mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathy.
    • SL Van Driest MJ Ackerman SR Ommen Prevalence and severity of “benign” mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathy. Circulation 106 2002 3085 3090
    • (2002) Circulation , vol.106 , pp. 3085-3090
    • Van Driest, SL1    Ackerman, MJ2    Ommen, SR3
  • 26
    • 0037630018 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
    • P Richard P Charron L Carrier Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation 107 2003 2227 2232
    • (2003) Circulation , vol.107 , pp. 2227-2232
    • Richard, P1    Charron, P2    Carrier, L3
  • 27
    • 0033577957 scopus 로고    scopus 로고
    • Familial hypertrophic cardiomyopathy and atrial fibrillation caused by Arg663His beta-cardiac myosin heavy chain mutation.
    • EJ Gruver D Fatkin GA Dodds Familial hypertrophic cardiomyopathy and atrial fibrillation caused by Arg663His beta-cardiac myosin heavy chain mutation. Am J Cardiol 83 1999 13H 18H
    • (1999) Am J Cardiol , vol.83 , pp. 13H-18H
    • Gruver, EJ1    Fatkin, D2    Dodds, GA3
  • 28
    • 0028306518 scopus 로고
    • A new missense mutation, Arg719Gln, in the beta-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy.
    • MW Consevage GC Salada BG Baylen RL Ladda PK Rogan A new missense mutation, Arg719Gln, in the beta-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy. Hum Mol Genet 3 1994 1025 1026
    • (1994) Hum Mol Genet , vol.3 , pp. 1025-1026
    • Consevage, MW1    Salada, GC2    Baylen, BG3    Ladda, RL4    Rogan, PK5
  • 29
    • 0026629472 scopus 로고
    • Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene: a 908Leu→Val mutation and a 403Arg→Gln mutation.
    • ND Epstein GM Cohn F Cyran L Fananapazir Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene: a 908Leu→Val mutation and a 403Arg→Gln mutation. Circulation 86 1992 345 352
    • (1992) Circulation , vol.86 , pp. 345-352
    • Epstein, ND1    Cohn, GM2    Cyran, F3    Fananapazir, L4
  • 30
    • 7044264544 scopus 로고    scopus 로고
    • Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.
    • SL Van Driest VC Vasile SR Ommen Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. J Am Coll Cardiol 44 2004 1903 1910
    • (2004) J Am Coll Cardiol , vol.44 , pp. 1903-1910
    • Van Driest, SL1    Vasile, VC2    Ommen, SR3
  • 31
    • 0032580520 scopus 로고    scopus 로고
    • Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy.
    • H Niimura LL Bachinski S Sangwatanaroj Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. N Engl J Med 338 1998 1248 1257
    • (1998) N Engl J Med , vol.338 , pp. 1248-1257
    • Niimura, H1    Bachinski, LL2    Sangwatanaroj, S3
  • 32
    • 0142104868 scopus 로고    scopus 로고
    • The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands.
    • M Alders R Jongbloed W Deelen The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands. Eur Heart J 24 2003 1848 1853
    • (2003) Eur Heart J , vol.24 , pp. 1848-1853
    • Alders, M1    Jongbloed, R2    Deelen, W3
  • 33
    • 0028902929 scopus 로고
    • Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy.
    • H Watkins WJ McKenna L Thierfelder Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. N Engl J Med 332 1995 1058 1064
    • (1995) N Engl J Med , vol.332 , pp. 1058-1064
    • Watkins, H1    McKenna, WJ2    Thierfelder, L3
  • 34
    • 33745444609 scopus 로고    scopus 로고
    • Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study.
    • H Morita MG Larson SC Barr Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study. Circulation 113 2006 2697 2705
    • (2006) Circulation , vol.113 , pp. 2697-2705
    • Morita, H1    Larson, MG2    Barr, SC3
  • 36
    • 34249912630 scopus 로고    scopus 로고
    • Mutations in the genes for sarcomeric proteins in Japanese patients with onset sporadic hypertrophic cardiomyopathy after age 40 years.
    • R Anan H Niimura T Takenaka S Hamasaki C Tei Mutations in the genes for sarcomeric proteins in Japanese patients with onset sporadic hypertrophic cardiomyopathy after age 40 years. Am J Cardiol 99 2007 1750 1754
    • (2007) Am J Cardiol , vol.99 , pp. 1750-1754
    • Anan, R1    Niimura, H2    Takenaka, T3    Hamasaki, S4    Tei, C5
  • 37
    • 0037192339 scopus 로고    scopus 로고
    • Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly.
    • H Niimura KK Patton WJ McKenna Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. Circulation 105 2002 446 451
    • (2002) Circulation , vol.105 , pp. 446-451
    • Niimura, H1    Patton, KK2    McKenna, WJ3
  • 38
    • 0033607481 scopus 로고    scopus 로고
    • COOH-terminal truncated cardiac myosin-binding protein C mutants resulting from familial hypertrophic cardiomyopathy mutations exhibit altered expression and/or incorporation in fetal rat cardiomyocytes.
    • J Flavigny M Souchet P Sebillon COOH-terminal truncated cardiac myosin-binding protein C mutants resulting from familial hypertrophic cardiomyopathy mutations exhibit altered expression and/or incorporation in fetal rat cardiomyocytes. J Mol Biol 294 1999 443 456
    • (1999) J Mol Biol , vol.294 , pp. 443-456
    • Flavigny, J1    Souchet, M2    Sebillon, P3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.