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Volumn 97, Issue 5, 1996, Pages 585-590

Malignant familial hypertrophic cardiomyopathy in a family with a 453Arg→Cys mutation in the β-myosin heavy chain gene: Coexistence of sudden death and end-stage heart failure

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYSTEINE; MYOSIN HEAVY CHAIN;

EID: 0029879075     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02281865     Document Type: Article
Times cited : (16)

References (33)
  • 2
    • 0025609463 scopus 로고
    • Apical segmental dysfunction in hypertrophie cardiomyopathy: Subgroup with unique clinical features
    • Ando H, Imaizumi T, Urabe Y, Takeshita A, Nakamura M (1990) Apical segmental dysfunction in hypertrophie cardiomyopathy: subgroup with unique clinical features. J Am Coll Cardiol 16 : 1579-1588
    • (1990) J Am Coll Cardiol , vol.16 , pp. 1579-1588
    • Ando, H.1    Imaizumi, T.2    Urabe, Y.3    Takeshita, A.4    Nakamura, M.5
  • 4
    • 0024605645 scopus 로고
    • Long-term outcome of patients with hypertrophie cardiomyopathy successfully resuscitated after cardiac arrest
    • Cecchi F, Maron BJ, Epstein SE (1989) Long-term outcome of patients with hypertrophie cardiomyopathy successfully resuscitated after cardiac arrest. J Am Coll Cardiol 13 : 1283-1288
    • (1989) J Am Coll Cardiol , vol.13 , pp. 1283-1288
    • Cecchi, F.1    Maron, B.J.2    Epstein, S.E.3
  • 5
    • 0027302431 scopus 로고
    • Skeletal muscle expression and abnormal function of β-myosin in hypertrophie cardiomyopathy
    • Cuda G, Fananapazir L, Zhu WS, Sellers JR, Epstein ND (1993) Skeletal muscle expression and abnormal function of β-myosin in hypertrophie cardiomyopathy. J Clin Invest 91 : 2861-2865
    • (1993) J Clin Invest , vol.91 , pp. 2861-2865
    • Cuda, G.1    Fananapazir, L.2    Zhu, W.S.3    Sellers, J.R.4    Epstein, N.D.5
  • 7
    • 0026629472 scopus 로고
    • Differences in clinical expression of hypertrophie cardiomyopathy associated with two distinct mutations in the β-myosin heavy chain gene
    • Epstein ND, Cohn GM, Cyran F, Fananapazir L (1992b) Differences in clinical expression of hypertrophie cardiomyopathy associated with two distinct mutations in the β-myosin heavy chain gene. Circulation 86 : 345-352
    • (1992) Circulation , vol.86 , pp. 345-352
    • Epstein, N.D.1    Cohn, G.M.2    Cyran, F.3    Fananapazir, L.4
  • 8
    • 0028140230 scopus 로고
    • Genotype-phenotype correlations in hypertrophie cardiomyopathy: Insights provided by comparisons of kindreds with distinct and identical β-myosin heavy chain gene mutations
    • Fananapazir L, Epstem ND (1994) Genotype-phenotype correlations in hypertrophie cardiomyopathy: insights provided by comparisons of kindreds with distinct and identical β-myosin heavy chain gene mutations. Circulation 89 : 22-32
    • (1994) Circulation , vol.89 , pp. 22-32
    • Fananapazir, L.1    Epstem, N.D.2
  • 9
    • 0024463304 scopus 로고
    • Electrophysiologic abnormalities in patients with hypertrophie cardiomyopathy: A consecutive analysis in 155 patients
    • Fananapazir L, Tracy CM. Leon MB, et al (1989) Electrophysiologic abnormalities in patients with hypertrophie cardiomyopathy: a consecutive analysis in 155 patients. Circulation 80 : 1259-1268
    • (1989) Circulation , vol.80 , pp. 1259-1268
    • Fananapazir, L.1    Tracy, C.M.2    Leon, M.B.3
  • 10
    • 0023152790 scopus 로고
    • Progression of hypertrophie cardiomyopathy into a hypokinetic left ventricle: Hiah incidence in patients with midventricular obstruction
    • Fighali S, Krajczer Z, Edelman S, Leachman RD (1987) Progression of hypertrophie cardiomyopathy into a hypokinetic left ventricle: hiah incidence in patients with midventricular obstruction. J Am Coll Cardiol 9 : 288-294
    • (1987) J Am Coll Cardiol , vol.9 , pp. 288-294
    • Fighali, S.1    Krajczer, Z.2    Edelman, S.3    Leachman, R.D.4
  • 12
    • 0027247910 scopus 로고
    • Coexistence of sudden death and end-stage heart failure in familial hypertrophic cardiomyopathy
    • Hecht GM, Klues HG, Roberts WC, Maron BJ (1993) Coexistence of sudden death and end-stage heart failure in familial hypertrophic cardiomyopathy. J Am Coll Cardiol 22 : 489-197
    • (1993) J Am Coll Cardiol , vol.22 , pp. 489-1197
    • Hecht, G.M.1    Klues, H.G.2    Roberts, W.C.3    Maron, B.J.4
  • 14
    • 0026788485 scopus 로고
    • No evidence for linkage of familial hypertrophic cardiomyopathy and chromosome 14q1 locus D14S26 in a Chinese family: Evidence for genetic heterogeneity
    • Ko YL, Lien WP, Chen JJ, Wu CW, Tang TK, Liew CC (1992 a) No evidence for linkage of familial hypertrophic cardiomyopathy and chromosome 14q1 locus D14S26 in a Chinese family: evidence for genetic heterogeneity. Hum Genet 89 : 597-601
    • (1992) Hum Genet , vol.89 , pp. 597-601
    • Ko, Y.L.1    Lien, W.P.2    Chen, J.J.3    Wu, C.W.4    Tang, T.K.5    Liew, C.C.6
  • 15
    • 0026894515 scopus 로고
    • Inheritance of hypertrophic cardiomyopathy in Chinese: M-mode and two-dimensional echocardiographic analysis of 28 families
    • 1992
    • Ko YL, Lei MH, Cherng JJ, Lin JL, Chen JJ, Kuan P, Lien WP (1992 b) Inheritance of hypertrophic cardiomyopathy in Chinese: M-mode and two-dimensional echocardiographic analysis of 28 families. J Formos Med Assoc 1992: 91 :669-673
    • (1992) J Formos Med Assoc , vol.91 , pp. 669-673
    • Ko, Y.L.1    Lei, M.H.2    Cherng, J.J.3    Lin, J.L.4    Chen, J.J.5    Kuan, P.6    Lien, W.P.7
  • 16
    • 0029085671 scopus 로고
    • Apical segmental dysfunction in hypertrophic cardiomyopathy: Progression into end-stage heart failure with sudden cardiac death
    • Ko YL, Lin JL, Lei MH, Chen JJ, Tsou JS, Kuan P, Lien WP (1995) Apical segmental dysfunction in hypertrophic cardiomyopathy: progression into end-stage heart failure with sudden cardiac death. Cardiology 86 : 436-440
    • (1995) Cardiology , vol.86 , pp. 436-440
    • Ko, Y.L.1    Lin, J.L.2    Lei, M.H.3    Chen, J.J.4    Tsou, J.S.5    Kuan, P.6    Lien, W.P.7
  • 19
    • 0026551763 scopus 로고
    • Sudden cardiac death in hypertrophic cardiomyopathy
    • Maron BJ, Fananapazir L (1992) Sudden cardiac death in hypertrophic cardiomyopathy. Circulation [Suppl I] 85 : I-57-I-63
    • (1992) Circulation [Suppl I] , vol.85
    • Maron, B.J.1    Fananapazir, L.2
  • 20
    • 0018761299 scopus 로고
    • Hypertrophic cardiomyopathy and transmural myocardial infarction without significant atherosclerosis of the extramural coronary arteries
    • Maron BJ, Epstein SE, Roberts WC (1979) Hypertrophic cardiomyopathy and transmural myocardial infarction without significant atherosclerosis of the extramural coronary arteries. Am J Cardiol 43: 1086-1102
    • (1979) Am J Cardiol , vol.43 , pp. 1086-1102
    • Maron, B.J.1    Epstein, S.E.2    Roberts, W.C.3
  • 21
    • 0019520493 scopus 로고
    • Prognostic significance of 24 hour ambulatory electrocardiographic monitoring in patients with hypertrophie cardiomyopathy: A prospective study
    • Maron BJ, Savage DD, Wolfson JK, et al (1981) Prognostic significance of 24 hour ambulatory electrocardiographic monitoring in patients with hypertrophie cardiomyopathy: a prospective study. Am J Cardiol 48 : 252-257
    • (1981) Am J Cardiol , vol.48 , pp. 252-257
    • Maron, B.J.1    Savage, D.D.2    Wolfson, J.K.3
  • 22
    • 0021346026 scopus 로고
    • Patterns of inheritance in hypertrophie cardiomyopathy: Assessment by M-mode and two-dimensional echocardiography
    • Maron BJ, Nichols PF III. Pickle LW, Wesley YE, Mulvihill JJ (1984) Patterns of inheritance in hypertrophie cardiomyopathy: assessment by M-mode and two-dimensional echocardiography. Am J Cardiol 53 : 1087-1094
    • (1984) Am J Cardiol , vol.53 , pp. 1087-1094
    • Maron, B.J.1    Nichols III, P.F.2    Pickle, L.W.3    Wesley, Y.E.4    Mulvihill, J.J.5
  • 23
    • 0023130164 scopus 로고
    • Hypertrophie cardiomyopathy: Interrelations of clinical manifestations, pathophysiology and therapy
    • Maron BJ, Bonow RO, Canon RO, Leon MB, Epstein SE (1987) Hypertrophie cardiomyopathy: interrelations of clinical manifestations, pathophysiology and therapy. N Engl J Med 316 : 780-789
    • (1987) N Engl J Med , vol.316 , pp. 780-789
    • Maron, B.J.1    Bonow, R.O.2    Canon, R.O.3    Leon, M.B.4    Epstein, S.E.5
  • 24
    • 0024756969 scopus 로고
    • Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
    • Orita M, Suzuki Y, Sekiya T, Hayashi K (1989) Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5 : 874-879
    • (1989) Genomics , vol.5 , pp. 874-879
    • Orita, M.1    Suzuki, Y.2    Sekiya, T.3    Hayashi, K.4
  • 25
    • 0026754168 scopus 로고
    • Expression of a missense mutation in the messenger RNA for β-myosin heavy chain in myocardial tissue in hypertrophic cardiomyopathy
    • Perryman MB, Yu QT, Marian AJ, Mares A, Czernuszewicz G Jr, Ifegwu J, Hill R, Roberts R (1992) Expression of a missense mutation in the messenger RNA for β-myosin heavy chain in myocardial tissue in hypertrophic cardiomyopathy. J Clin Invest 90 : 271-277
    • (1992) J Clin Invest , vol.90 , pp. 271-277
    • Perryman, M.B.1    Yu, Q.T.2    Marian, A.J.3    Mares, A.4    Czernuszewicz Jr., G.5    Ifegwu, J.6    Hill, R.7    Roberts, R.8
  • 28
    • 0023269245 scopus 로고
    • Occurrence and significance of progressive left ventricular wall thinning and relative cavity dilatation in hypertrophie cardiomyopathy
    • Spirito P, Maron BJ, Bonow RO, Epstein SE (1987) Occurrence and significance of progressive left ventricular wall thinning and relative cavity dilatation in hypertrophie cardiomyopathy. Am J Cardiol 59 : 123-129
    • (1987) Am J Cardiol , vol.59 , pp. 123-129
    • Spirito, P.1    Maron, B.J.2    Bonow, R.O.3    Epstein, S.E.4
  • 31
    • 0028178083 scopus 로고
    • α-Tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: A disease of the sarcornere
    • Thierfelder L, Watkins H, MacRae C, Lamas R, McKenna W, Vosberg H-P, Seidman JG, Seidman CE (1994) α-Tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcornere. Cell 77 : 713-725
    • (1994) Cell , vol.77 , pp. 713-725
    • Thierfelder, L.1    Watkins, H.2    MacRae, C.3    Lamas, R.4    McKenna, W.5    Vosberg, H.-P.6    Seidman, J.G.7    Seidman, C.E.8
  • 32
    • 0026573969 scopus 로고
    • Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy
    • Watkins H, Rosenzweig A, Hwang DS, Levi T, Mckenna W, Seidman CE, Seidman JG (1992) Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Engl J Med 326: 1108-1114
    • (1992) N Engl J Med , vol.326 , pp. 1108-1114
    • Watkins, H.1    Rosenzweig, A.2    Hwang, D.S.3    Levi, T.4    Mckenna, W.5    Seidman, C.E.6    Seidman, J.G.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.