Molecular Genetic Basis of Hypertrophic Cardiomyopathy:
Genetics of SCD in HCM. Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disease caused by mutations in sarcomeric proteins. The disease is characterized by left ventricular hypertrophy in the absence of an increased external load, and myofibrillar disarray. A large number of mutations in...
Ausführliche Beschreibung
Autor*in: |
MARIAN, ALI J. - M.D. [verfasserIn] ROBERTS, ROBERT - M.D. [verfasserIn] |
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E-Artikel |
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Erschienen: |
Oxford, UK: Blackwell Publishing Ltd ; 1998 |
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Online-Ressource |
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2007 ; Blackwell Publishing Journal Backfiles 1879-2005 |
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Übergeordnetes Werk: |
In: Journal of cardiovascular electrophysiology - Oxford : Wiley-Blackwell, 1990, 9(1998), 1, Seite 0 |
Übergeordnetes Werk: |
volume:9 ; year:1998 ; number:1 ; pages:0 |
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DOI / URN: |
10.1111/j.1540-8167.1998.tb00871.x |
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10.1111/j.1540-8167.1998.tb00871.x doi (DE-627)NLEJ24334046X DE-627 ger DE-627 rakwb MARIAN, ALI J. M.D. verfasserin aut Molecular Genetic Basis of Hypertrophic Cardiomyopathy: Oxford, UK Blackwell Publishing Ltd 1998 Online-Ressource nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Genetics of SCD in HCM. Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disease caused by mutations in sarcomeric proteins. The disease is characterized by left ventricular hypertrophy in the absence of an increased external load, and myofibrillar disarray. A large number of mutations in genes coding for the β-myosin heavy chain (β-MyHC), cardiac troponin T (cTnT), cardiac troponin I, α-tropomyosin, myosin binding protein C (MyBP-C), and myosin light chain 1 and 2 in patients with HCM have been identified. Genotype-phenotype correlation studies have shown that mutations carry prognostic significance. The Gly256Glu, Val606Met, and Leu908Val mutations in the μ-MyHC are associated with a benign prognosis. In contrast, Arg403Gln, Arg719Trp, and Arg453Cys mutations are associated with a high incidence of sudden cardiac death (SCD). Mutations in cTnT are associated with a mild degree of hypertrophy, but a high incidence of SCD. Mutations in MyBP-C are associated with mild hypertrophy and a benign prognosis. However, it has become evident that factors other than the underlying mutations, such as genetic background and possibly environmental factors, also modulate phenotypic expression of HCM. 2007 Blackwell Publishing Journal Backfiles 1879-2005 |2007|||||||||| hypertrophic cardiomyopathy ROBERTS, ROBERT M.D. verfasserin aut In Journal of cardiovascular electrophysiology Oxford : Wiley-Blackwell, 1990 9(1998), 1, Seite 0 Online-Ressource (DE-627)NLEJ243926243 (DE-600)2037519-0 1540-8167 nnns volume:9 year:1998 number:1 pages:0 http://dx.doi.org/10.1111/j.1540-8167.1998.tb00871.x text/html Verlag Deutschlandweit zugänglich Volltext GBV_USEFLAG_U ZDB-1-DJB GBV_NL_ARTICLE AR 9 1998 1 0 |
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10.1111/j.1540-8167.1998.tb00871.x doi (DE-627)NLEJ24334046X DE-627 ger DE-627 rakwb MARIAN, ALI J. M.D. verfasserin aut Molecular Genetic Basis of Hypertrophic Cardiomyopathy: Oxford, UK Blackwell Publishing Ltd 1998 Online-Ressource nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Genetics of SCD in HCM. Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disease caused by mutations in sarcomeric proteins. The disease is characterized by left ventricular hypertrophy in the absence of an increased external load, and myofibrillar disarray. A large number of mutations in genes coding for the β-myosin heavy chain (β-MyHC), cardiac troponin T (cTnT), cardiac troponin I, α-tropomyosin, myosin binding protein C (MyBP-C), and myosin light chain 1 and 2 in patients with HCM have been identified. Genotype-phenotype correlation studies have shown that mutations carry prognostic significance. The Gly256Glu, Val606Met, and Leu908Val mutations in the μ-MyHC are associated with a benign prognosis. In contrast, Arg403Gln, Arg719Trp, and Arg453Cys mutations are associated with a high incidence of sudden cardiac death (SCD). Mutations in cTnT are associated with a mild degree of hypertrophy, but a high incidence of SCD. Mutations in MyBP-C are associated with mild hypertrophy and a benign prognosis. However, it has become evident that factors other than the underlying mutations, such as genetic background and possibly environmental factors, also modulate phenotypic expression of HCM. 2007 Blackwell Publishing Journal Backfiles 1879-2005 |2007|||||||||| hypertrophic cardiomyopathy ROBERTS, ROBERT M.D. verfasserin aut In Journal of cardiovascular electrophysiology Oxford : Wiley-Blackwell, 1990 9(1998), 1, Seite 0 Online-Ressource (DE-627)NLEJ243926243 (DE-600)2037519-0 1540-8167 nnns volume:9 year:1998 number:1 pages:0 http://dx.doi.org/10.1111/j.1540-8167.1998.tb00871.x text/html Verlag Deutschlandweit zugänglich Volltext GBV_USEFLAG_U ZDB-1-DJB GBV_NL_ARTICLE AR 9 1998 1 0 |
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10.1111/j.1540-8167.1998.tb00871.x doi (DE-627)NLEJ24334046X DE-627 ger DE-627 rakwb MARIAN, ALI J. M.D. verfasserin aut Molecular Genetic Basis of Hypertrophic Cardiomyopathy: Oxford, UK Blackwell Publishing Ltd 1998 Online-Ressource nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Genetics of SCD in HCM. Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disease caused by mutations in sarcomeric proteins. The disease is characterized by left ventricular hypertrophy in the absence of an increased external load, and myofibrillar disarray. A large number of mutations in genes coding for the β-myosin heavy chain (β-MyHC), cardiac troponin T (cTnT), cardiac troponin I, α-tropomyosin, myosin binding protein C (MyBP-C), and myosin light chain 1 and 2 in patients with HCM have been identified. Genotype-phenotype correlation studies have shown that mutations carry prognostic significance. The Gly256Glu, Val606Met, and Leu908Val mutations in the μ-MyHC are associated with a benign prognosis. In contrast, Arg403Gln, Arg719Trp, and Arg453Cys mutations are associated with a high incidence of sudden cardiac death (SCD). Mutations in cTnT are associated with a mild degree of hypertrophy, but a high incidence of SCD. Mutations in MyBP-C are associated with mild hypertrophy and a benign prognosis. However, it has become evident that factors other than the underlying mutations, such as genetic background and possibly environmental factors, also modulate phenotypic expression of HCM. 2007 Blackwell Publishing Journal Backfiles 1879-2005 |2007|||||||||| hypertrophic cardiomyopathy ROBERTS, ROBERT M.D. verfasserin aut In Journal of cardiovascular electrophysiology Oxford : Wiley-Blackwell, 1990 9(1998), 1, Seite 0 Online-Ressource (DE-627)NLEJ243926243 (DE-600)2037519-0 1540-8167 nnns volume:9 year:1998 number:1 pages:0 http://dx.doi.org/10.1111/j.1540-8167.1998.tb00871.x text/html Verlag Deutschlandweit zugänglich Volltext GBV_USEFLAG_U ZDB-1-DJB GBV_NL_ARTICLE AR 9 1998 1 0 |
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10.1111/j.1540-8167.1998.tb00871.x doi (DE-627)NLEJ24334046X DE-627 ger DE-627 rakwb MARIAN, ALI J. M.D. verfasserin aut Molecular Genetic Basis of Hypertrophic Cardiomyopathy: Oxford, UK Blackwell Publishing Ltd 1998 Online-Ressource nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Genetics of SCD in HCM. Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disease caused by mutations in sarcomeric proteins. The disease is characterized by left ventricular hypertrophy in the absence of an increased external load, and myofibrillar disarray. A large number of mutations in genes coding for the β-myosin heavy chain (β-MyHC), cardiac troponin T (cTnT), cardiac troponin I, α-tropomyosin, myosin binding protein C (MyBP-C), and myosin light chain 1 and 2 in patients with HCM have been identified. Genotype-phenotype correlation studies have shown that mutations carry prognostic significance. The Gly256Glu, Val606Met, and Leu908Val mutations in the μ-MyHC are associated with a benign prognosis. In contrast, Arg403Gln, Arg719Trp, and Arg453Cys mutations are associated with a high incidence of sudden cardiac death (SCD). Mutations in cTnT are associated with a mild degree of hypertrophy, but a high incidence of SCD. Mutations in MyBP-C are associated with mild hypertrophy and a benign prognosis. However, it has become evident that factors other than the underlying mutations, such as genetic background and possibly environmental factors, also modulate phenotypic expression of HCM. 2007 Blackwell Publishing Journal Backfiles 1879-2005 |2007|||||||||| hypertrophic cardiomyopathy ROBERTS, ROBERT M.D. verfasserin aut In Journal of cardiovascular electrophysiology Oxford : Wiley-Blackwell, 1990 9(1998), 1, Seite 0 Online-Ressource (DE-627)NLEJ243926243 (DE-600)2037519-0 1540-8167 nnns volume:9 year:1998 number:1 pages:0 http://dx.doi.org/10.1111/j.1540-8167.1998.tb00871.x text/html Verlag Deutschlandweit zugänglich Volltext GBV_USEFLAG_U ZDB-1-DJB GBV_NL_ARTICLE AR 9 1998 1 0 |
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Genetics of SCD in HCM. Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disease caused by mutations in sarcomeric proteins. The disease is characterized by left ventricular hypertrophy in the absence of an increased external load, and myofibrillar disarray. A large number of mutations in genes coding for the β-myosin heavy chain (β-MyHC), cardiac troponin T (cTnT), cardiac troponin I, α-tropomyosin, myosin binding protein C (MyBP-C), and myosin light chain 1 and 2 in patients with HCM have been identified. Genotype-phenotype correlation studies have shown that mutations carry prognostic significance. The Gly256Glu, Val606Met, and Leu908Val mutations in the μ-MyHC are associated with a benign prognosis. In contrast, Arg403Gln, Arg719Trp, and Arg453Cys mutations are associated with a high incidence of sudden cardiac death (SCD). Mutations in cTnT are associated with a mild degree of hypertrophy, but a high incidence of SCD. Mutations in MyBP-C are associated with mild hypertrophy and a benign prognosis. However, it has become evident that factors other than the underlying mutations, such as genetic background and possibly environmental factors, also modulate phenotypic expression of HCM. |
abstractGer |
Genetics of SCD in HCM. Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disease caused by mutations in sarcomeric proteins. The disease is characterized by left ventricular hypertrophy in the absence of an increased external load, and myofibrillar disarray. A large number of mutations in genes coding for the β-myosin heavy chain (β-MyHC), cardiac troponin T (cTnT), cardiac troponin I, α-tropomyosin, myosin binding protein C (MyBP-C), and myosin light chain 1 and 2 in patients with HCM have been identified. Genotype-phenotype correlation studies have shown that mutations carry prognostic significance. The Gly256Glu, Val606Met, and Leu908Val mutations in the μ-MyHC are associated with a benign prognosis. In contrast, Arg403Gln, Arg719Trp, and Arg453Cys mutations are associated with a high incidence of sudden cardiac death (SCD). Mutations in cTnT are associated with a mild degree of hypertrophy, but a high incidence of SCD. Mutations in MyBP-C are associated with mild hypertrophy and a benign prognosis. However, it has become evident that factors other than the underlying mutations, such as genetic background and possibly environmental factors, also modulate phenotypic expression of HCM. |
abstract_unstemmed |
Genetics of SCD in HCM. Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disease caused by mutations in sarcomeric proteins. The disease is characterized by left ventricular hypertrophy in the absence of an increased external load, and myofibrillar disarray. A large number of mutations in genes coding for the β-myosin heavy chain (β-MyHC), cardiac troponin T (cTnT), cardiac troponin I, α-tropomyosin, myosin binding protein C (MyBP-C), and myosin light chain 1 and 2 in patients with HCM have been identified. Genotype-phenotype correlation studies have shown that mutations carry prognostic significance. The Gly256Glu, Val606Met, and Leu908Val mutations in the μ-MyHC are associated with a benign prognosis. In contrast, Arg403Gln, Arg719Trp, and Arg453Cys mutations are associated with a high incidence of sudden cardiac death (SCD). Mutations in cTnT are associated with a mild degree of hypertrophy, but a high incidence of SCD. Mutations in MyBP-C are associated with mild hypertrophy and a benign prognosis. However, it has become evident that factors other than the underlying mutations, such as genetic background and possibly environmental factors, also modulate phenotypic expression of HCM. |
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<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">NLEJ24334046X</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230506095807.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">120427s1998 xx |||||o 00| ||und c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1111/j.1540-8167.1998.tb00871.x</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)NLEJ24334046X</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">MARIAN, ALI J.</subfield><subfield code="c">M.D.</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Molecular Genetic Basis of Hypertrophic Cardiomyopathy:</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="a">Oxford, UK</subfield><subfield code="b">Blackwell Publishing Ltd</subfield><subfield code="c">1998</subfield></datafield><datafield tag="300" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">zzz</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">z</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">zu</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Genetics of SCD in HCM. Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disease caused by mutations in sarcomeric proteins. The disease is characterized by left ventricular hypertrophy in the absence of an increased external load, and myofibrillar disarray. A large number of mutations in genes coding for the β-myosin heavy chain (β-MyHC), cardiac troponin T (cTnT), cardiac troponin I, α-tropomyosin, myosin binding protein C (MyBP-C), and myosin light chain 1 and 2 in patients with HCM have been identified. Genotype-phenotype correlation studies have shown that mutations carry prognostic significance. The Gly256Glu, Val606Met, and Leu908Val mutations in the μ-MyHC are associated with a benign prognosis. In contrast, Arg403Gln, Arg719Trp, and Arg453Cys mutations are associated with a high incidence of sudden cardiac death (SCD). Mutations in cTnT are associated with a mild degree of hypertrophy, but a high incidence of SCD. Mutations in MyBP-C are associated with mild hypertrophy and a benign prognosis. 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7.399638 |