메뉴 건너뛰기




Volumn 19, Issue 3, 1998, Pages 490-499

Familial hypertrophic cardiomyopathy. Cardiac ultrasonic abnormalities in genetically affected subjects without echocardiographic evidence of left ventricular hypertrophy

Author keywords

MHC gene; Echocardiography; Genetics; Hypertrophic cardiomyopathy; MyPB C gene

Indexed keywords

MYOSIN HEAVY CHAIN;

EID: 0032032248     PISSN: 0195668X     EISSN: None     Source Type: Journal    
DOI: 10.1053/euhj.1997.0735     Document Type: Article
Times cited : (46)

References (42)
  • 2
    • 0029166817 scopus 로고
    • Recent advances in the molecular genetics of hypertrophic cardiomyopathy
    • [2] Marian AJ, Roberts R.Recent advances in the molecular genetics of hypertrophic cardiomyopathy. Circulation 1995; 92: 1336-47.
    • (1995) Circulation , vol.92 , pp. 1336-1347
    • Marian, A.J.1    Roberts, R.2
  • 3
    • 0025040392 scopus 로고
    • A molecular basis for familial hypertrophic cardiomyopathy: A β-cardiac myosin heavy chain gene missense mutation
    • [3] Geisterfer-Lowrance AAT, Kass S, Tanogawa G, et al. A molecular basis for familial hypertrophic cardiomyopathy: a β-cardiac myosin heavy chain gene missense mutation. Cell 1990; 62: 999-1996.
    • (1990) Cell , vol.62 , pp. 999-1996
    • Geisterfer-Lowrance, A.A.T.1    Kass, S.2    Tanogawa, G.3
  • 4
    • 0024426784 scopus 로고
    • Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14ql
    • [4] Jarcho JA, McKenna W, Peter Pare JA et al. Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14ql. N Engl J Med 1989; 321: 1372-8.
    • (1989) N Engl J Med , vol.321 , pp. 1372-1378
    • Jarcho, J.A.1    McKenna, W.2    Peter Pare, J.A.3
  • 5
    • 0027420155 scopus 로고
    • A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3
    • [5] Watkins H, MacRae C, Thierfelder L et al. A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3. Nature genet 1993; 3: 333-7.
    • (1993) Nature Genet , vol.3 , pp. 333-337
    • Watkins, H.1    MacRae, C.2    Thierfelder, L.3
  • 6
    • 0027180678 scopus 로고
    • A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2
    • [6] Thierfelder L, MacRae C, Watkins H. et al. A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2. Proc Natl Acad Sci USA 1993; 90: 6270-4.
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 6270-6274
    • Thierfelder, L.1    MacRae, C.2    Watkins, H.3
  • 7
    • 0027161005 scopus 로고
    • Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11
    • [7] Carrier L, Hengstenberg C, Beckman JS et al. Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11. Nature genet 1993; 4: 311-4.
    • (1993) Nature Genet , vol.4 , pp. 311-314
    • Carrier, L.1    Hengstenberg, C.2    Beckman, J.S.3
  • 8
    • 0028902929 scopus 로고
    • Mutations in the genes for cardiac troponin T and α-tropomyosin in hypertrophic cardiomyopathy
    • [8] Watkins HC, McKenna WJ, Thierfelder LH et al. Mutations in the genes for cardiac troponin T and α-tropomyosin in hypertrophic cardiomyopathy. N Engl J Med 1995; 332: 1058-64.
    • (1995) N Engl J Med , vol.332 , pp. 1058-1064
    • Watkins, H.C.1    McKenna, W.J.2    Thierfelder, L.H.3
  • 9
    • 0028886136 scopus 로고
    • Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy
    • [9] Bonne G, Carrier L, Bercovici J, et al. Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. Nature genet 1995; 11: 438-40.
    • (1995) Nature Genet , vol.11 , pp. 438-440
    • Bonne, G.1    Carrier, L.2    Bercovici, J.3
  • 10
    • 0028844204 scopus 로고
    • Mutations in the cardiac myosin binding protein gene on chromosome 11 cause familial hypertrophic cardiomyopathy
    • [10] Watkins H, Conner D, Thierfelder L et al. Mutations in the cardiac myosin binding protein gene on chromosome 11 cause familial hypertrophic cardiomyopathy. Nature genet 1995; 11: 434-7.
    • (1995) Nature Genet , vol.11 , pp. 434-437
    • Watkins, H.1    Conner, D.2    Thierfelder, L.3
  • 11
    • 0029143611 scopus 로고
    • Familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3
    • [11] McRae CA, Ghaisas N, Kass S. et al. Familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3.. J Clin Invest 1995; 96: 1216-20.
    • (1995) J Clin Invest , vol.96 , pp. 1216-1220
    • McRae, C.A.1    Ghaisas, N.2    Kass, S.3
  • 12
    • 0000580911 scopus 로고
    • Mise en évidence d'un cinquième locus impliqué dans les cardiomyopathies hypertrophiques familiales
    • [12] Hengstenberg C, Charron P, Isnard R. et al. Mise en évidence d'un cinquième locus impliqué dans les cardiomyopathies hypertrophiques familiales. Arch Mal Coeur 1994; 87: 1655-62.
    • (1994) Arch Mal Coeur , vol.87 , pp. 1655-1662
    • Hengstenberg, C.1    Charron, P.2    Isnard, R.3
  • 13
    • 0023130164 scopus 로고
    • Hypertrophic cardiomyopathy: Interrelations of clinical manifestations, pathophysiology and therapy
    • [13] Maron BJ, Bonow RO, Canon III RO, Leon MB, Epstein SE. Hypertrophic cardiomyopathy: interrelations of clinical manifestations, pathophysiology and therapy. N Engl J Med 1987; 316: 780-9/844-52.
    • (1987) N Engl J Med , vol.316 , pp. 780-789
    • Maron, B.J.1    Bonow, R.O.2    Canon R.O. III3    Leon, M.B.4    Epstein, S.E.5
  • 14
    • 0027209383 scopus 로고
    • Left ventricular hypertrophy and morphology in familial hypertrophic cardiomyopathy associated with mutations of the beta-myosin heavy chain
    • [14] Solomon SD, Wolff S, Watkins H et al. Left ventricular hypertrophy and morphology in familial hypertrophic cardiomyopathy associated with mutations of the beta-myosin heavy chain. J Am Coll Cardiol 1993; 22: 498-505.
    • (1993) J Am Coll Cardiol , vol.22 , pp. 498-505
    • Solomon, S.D.1    Wolff, S.2    Watkins, H.3
  • 15
    • 0027283680 scopus 로고
    • Molecular echocardiography
    • [15] Keating M.Molecular echocardiography (Editorial). J Am Coll Cardiol 1993; 22: 506-7.
    • (1993) J Am Coll Cardiol , vol.22 , pp. 506-507
    • Keating, M.1
  • 16
    • 0022498091 scopus 로고
    • Development and progression of left ventricular hypertrophy in children with hypertrophic cardiomyopathy
    • [16] Maron BJ, Spirito P, Wesley Y, Arce J. Development and progression of left ventricular hypertrophy in children with hypertrophic cardiomyopathy. N Engl J Med 1986; 315: 610-14.
    • (1986) N Engl J Med , vol.315 , pp. 610-614
    • Maron, B.J.1    Spirito, P.2    Wesley, Y.3    Arce, J.4
  • 17
    • 0030842476 scopus 로고    scopus 로고
    • Diagnostic value of electrocardiography and echocardiography in genetically affected adults with familial hypertrophic cardiomyopathy
    • [17] Charron P, Dubourg O, Desnos M et al. Diagnostic value of electrocardiography and echocardiography in genetically affected adults with familial hypertrophic cardiomyopathy. Circulation 1997; 96: 214-19.
    • (1997) Circulation , vol.96 , pp. 214-219
    • Charron, P.1    Dubourg, O.2    Desnos, M.3
  • 18
    • 0029128024 scopus 로고
    • Prevalence of hypertrophic cardiomyopathy and limitations of screening methods
    • [18] Fananapazir L, Epstein ND. Prevalence of hypertrophic cardiomyopathy and limitations of screening methods. Circulation 1995; 92: 700-4.
    • (1995) Circulation , vol.92 , pp. 700-704
    • Fananapazir, L.1    Epstein, N.D.2
  • 19
    • 0027138216 scopus 로고
    • Familial hypertrophic cardiomyopathy: Micro satellite haplotyping and identification of a hot-spot for mutations in the β-myosin heavy chain gene
    • [19] Dausse E, Komajda M, Fetler L. et al. Familial Hypertrophic cardiomyopathy: micro satellite haplotyping and identification of a hot-spot for mutations in the β-myosin heavy chain gene. J Clin Invest 1993; 92: 2807-13.
    • (1993) J Clin Invest , vol.92 , pp. 2807-2813
    • Dausse, E.1    Komajda, M.2    Fetler, L.3
  • 20
    • 0026409603 scopus 로고
    • Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytes
    • [20] Rosenzweig A, Watkins H, Hwang DS et al. Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytes. N Engl J Med 1991; 325: 1573-60.
    • (1991) N Engl J Med , vol.325 , pp. 1573-1660
    • Rosenzweig, A.1    Watkins, H.2    Hwang, D.S.3
  • 21
    • 0025279744 scopus 로고
    • Hypertrophic cardiomyopathy without hypertrophy: Two families with myocardial disarray in the absence of increased myocardial mass
    • [21] McKenna WJ, Stewart JT, Nihoyannopoulos P, McGinty F, Davies MJ. Hypertrophic cardiomyopathy without hypertrophy: two families with myocardial disarray in the absence of increased myocardial mass. Br Heart J 1990; 63: 287-90.
    • (1990) Br Heart J , vol.63 , pp. 287-290
    • McKenna, W.J.1    Stewart, J.T.2    Nihoyannopoulos, P.3    McGinty, F.4    Davies, M.J.5
  • 22
    • 0028140230 scopus 로고
    • Genotype-phenotype correlations in hypertrophic cardiomyopathy: Insights provided by comparisons of kindreds with distinct and identical β-myosin heavy chain gene mutations
    • [22] Fananapazir L, Epstein N. Genotype-phenotype correlations in hypertrophic cardiomyopathy: Insights provided by comparisons of kindreds with distinct and identical β-myosin heavy chain gene mutations. Circulation 1994; 89: 22-32.
    • (1994) Circulation , vol.89 , pp. 22-32
    • Fananapazir, L.1    Epstein, N.2
  • 23
    • 0026629472 scopus 로고
    • Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the β-myosin heavy chain gene: A 908 Leu → Val mutation and a 403 Arg → Glu mutation
    • [23] Epstein ND, Cohn GM, Cyran F, Fananapazir L. Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the β-myosin heavy chain gene: a 908 Leu → Val mutation and a 403 Arg → Glu mutation. Circulation 1992; 86: 345-52.
    • (1992) Circulation , vol.86 , pp. 345-352
    • Epstein, N.D.1    Cohn, G.M.2    Cyran, F.3    Fananapazir, L.4
  • 24
    • 0028927133 scopus 로고
    • Doppler echocardiography in familial hypertrophic cardiomyopathy: The French Cooperative Study
    • [24] Dubourg O, Isnard R, Hagège A, et al. Doppler echocardiography in familial hypertrophic cardiomyopathy: the French Cooperative Study. Echocardiography 1995; 12: 235-41.
    • (1995) Echocardiography , vol.12 , pp. 235-241
    • Dubourg, O.1    Isnard, R.2    Hagège, A.3
  • 25
    • 0028167795 scopus 로고
    • The electrocardiogram is a more sensitive indicator than echocardiography of hypertrophic cardiomyopathy in families with a mutation in the MYH7 gene
    • [25] Al-Mahdawi S, Chamberlain S, Chojnowska L et al. The electrocardiogram is a more sensitive indicator than echocardiography of hypertrophic cardiomyopathy in families with a mutation in the MYH7 gene. Br Heart J 1994; 72: 105-11.
    • (1994) Br Heart J , vol.72 , pp. 105-111
    • Al-Mahdawi, S.1    Chamberlain, S.2    Chojnowska, L.3
  • 26
    • 0026762993 scopus 로고
    • Exclusion of cardiac myosin heavy chain and actin gene involvement in hypertrophic cardiomyopathy of several French families
    • [26] Schwartz K, Beckmann J, Dufour C et al. Exclusion of cardiac myosin heavy chain and actin gene involvement in hypertrophic cardiomyopathy of several French families. Circ Res 1992; 71: 3-8.
    • (1992) Circ Res , vol.71 , pp. 3-8
    • Schwartz, K.1    Beckmann, J.2    Dufour, C.3
  • 27
    • 0018231715 scopus 로고
    • The committee on M-mode standardization of the American Society of Echocardiography: Recommendations regarding quantitation in M-mode echocardiography. Results of a survey of echocardiographic measurements
    • [27] Sahn DJ, DeMaria A, Kisslo J, Weyman A. The committee on M-mode standardization of the American Society of Echocardiography: recommendations regarding quantitation in M-mode echocardiography. Results of a survey of echocardiographic measurements. Circulation 1978; 58: 1072-83.
    • (1978) Circulation , vol.58 , pp. 1072-1083
    • Sahn, D.J.1    DeMaria, A.2    Kisslo, J.3    Weyman, A.4
  • 28
    • 0017843160 scopus 로고
    • Echocardiographic measurements in normal subjects: Growth-related changes that occur between infancy and early adulthood
    • [28] Henry WL, Ware J, Gardin JM, Hepner SL, McKay J, Weiner M.. Echocardiographic measurements in normal subjects: growth-related changes that occur between infancy and early adulthood. Circulation 1978; 57: 278-82.
    • (1978) Circulation , vol.57 , pp. 278-282
    • Henry, W.L.1    Ware, J.2    Gardin, J.M.3    Hepner, S.L.4    McKay, J.5    Weiner, M.6
  • 29
    • 0017279676 scopus 로고
    • Problems in echocardiographic-angiographic correlations in the presence of asynergy
    • [29] Teicholz LE, Kreulen T, Herman MV, Gorlin R. Problems in echocardiographic-angiographic correlations in the presence of asynergy. Am J Cardiol 1976; 37: 7-11.
    • (1976) Am J Cardiol , vol.37 , pp. 7-11
    • Teicholz, L.E.1    Kreulen, T.2    Herman, M.V.3    Gorlin, R.4
  • 30
    • 0017331788 scopus 로고
    • Echocardiographic determination of left ventricular mass in man. Anatomic validation of the method
    • [30] Devereux RB, Reichek N. Echocardiographic determination of left ventricular mass in man. Anatomic validation of the method. Circulation 1977; 55: 613-18.
    • (1977) Circulation , vol.55 , pp. 613-618
    • Devereux, R.B.1    Reichek, N.2
  • 31
    • 0020041965 scopus 로고
    • Noninvasive determination of left ventricular end-systolic stress: Validation of the method and initial application
    • [31] Reichek N, Wilson J, St John Sutton M, Plappert TA, Goldberg S, Hirshfeld JW. Noninvasive determination of left ventricular end-systolic stress: validation of the method and initial application. Circulation 1982; 65: 99-109.
    • (1982) Circulation , vol.65 , pp. 99-109
    • Reichek, N.1    Wilson, J.2    St. John Sutton, M.3    Plappert, T.A.4    Goldberg, S.5    Hirshfeld, J.W.6
  • 32
    • 0020421994 scopus 로고
    • Left ventricular end-systolic stress-shortening and stress length relations in humans. Normal values and sensitivity to inotropic state
    • [32] Borow KN, Green LH, Grossman W, Braunwald E. Left ventricular end-systolic stress-shortening and stress length relations in humans. Normal values and sensitivity to inotropic state. Am J Cardiol 1982; 50: 1301-8.
    • (1982) Am J Cardiol , vol.50 , pp. 1301-1308
    • Borow, K.N.1    Green, L.H.2    Grossman, W.3    Braunwald, E.4
  • 33
    • 0025345602 scopus 로고
    • Sudden death in hypertrophic cardiomyopathy with normal left ventricular mass
    • [33] Maron BJ, Kragel AH, Roberts WC. Sudden death in hypertrophic cardiomyopathy with normal left ventricular mass. Br Heart J 1990; 63: 308-10.
    • (1990) Br Heart J , vol.63 , pp. 308-310
    • Maron, B.J.1    Kragel, A.H.2    Roberts, W.C.3
  • 34
    • 0022390809 scopus 로고
    • Hypertrophic cardiomyopathy: The importance of the site and extent of hypertrophy-a review
    • [34] Wigle ED, Sasson Z, Henderson MA et al. Hypertrophic cardiomyopathy: the importance of the site and extent of hypertrophy-a review. Prog Cardiovasc Dis 1985; 28: 1-83.
    • (1985) Prog Cardiovasc Dis , vol.28 , pp. 1-83
    • Wigle, E.D.1    Sasson, Z.2    Henderson, M.A.3
  • 35
    • 0028849972 scopus 로고
    • Phenotypic spectrum and patterns of left ventricular hypertrophy in hypertrophic cardiomyopathy: Morphologic observations and significance as assessed by two-dimensional echocardiography in 600 patients
    • [35] Klues HG, Schiffers A, Maron BJ. Phenotypic spectrum and patterns of left ventricular hypertrophy in hypertrophic cardiomyopathy: Morphologic observations and significance as assessed by two-dimensional echocardiography in 600 patients. J Am Coll Coll Cardiol 1995; 26: 1699-708.
    • (1995) J Am Coll Coll Cardiol , vol.26 , pp. 1699-1708
    • Klues, H.G.1    Schiffers, A.2    Maron, B.J.3
  • 36
    • 0020561948 scopus 로고
    • Distribution of left ventricular hypertrophy in hypertrophic cardiomyopathy: A two-dimensional echocardiographic study
    • [36] Shapiro LM, McKenna WJ. Distribution of left ventricular hypertrophy in hypertrophic cardiomyopathy: a two-dimensional echocardiographic study. J Am Coll Cardiol 1983; 2: 437-44.
    • (1983) J Am Coll Cardiol , vol.2 , pp. 437-444
    • Shapiro, L.M.1    McKenna, W.J.2
  • 37
    • 0026665672 scopus 로고
    • Risk, genotype, and cardiovascular disease
    • [37] Keating M. Risk, genotype, and cardiovascular disease. Circulation 1992; 86: 688-90.
    • (1992) Circulation , vol.86 , pp. 688-690
    • Keating, M.1
  • 38
    • 0010613771 scopus 로고
    • In vitro motility activity of β-cardiac myosin depends on the nature of the β-myosin heavy chain gene mutation in hypertrophic cardiomyopathy
    • [38] Cuda G, Sellers J, Epstein ND, Fananapazir L. In vitro motility activity of β-cardiac myosin depends on the nature of the β-myosin heavy chain gene mutation in hypertrophic cardiomyopathy. Circulation 1993; 38 (Suppl I): I-343.
    • (1993) Circulation , vol.38 , Issue.SUPPL. I
    • Cuda, G.1    Sellers, J.2    Epstein, N.D.3    Fananapazir, L.4
  • 39
    • 0027980111 scopus 로고
    • Heterologous expression of a cardiomyopathic myosin that is defective in its actin interaction
    • [39] Sweeney HL, Straceski AJ, Leinwand LA, Tikunov BA, Faust L. Heterologous expression of a cardiomyopathic myosin that is defective in its actin interaction. J Biol Chem 1994; 269: 1603-5.
    • (1994) J Biol Chem , vol.269 , pp. 1603-1605
    • Sweeney, H.L.1    Straceski, A.J.2    Leinwand, L.A.3    Tikunov, B.A.4    Faust, L.5
  • 40
    • 0023118885 scopus 로고    scopus 로고
    • An integrated mechanism to explain the systolic anterior motion of the mitral valve in hypertrophic cardiomyopathy based on echocardiographic observations
    • [40] Jiang L, Levine RA, King ME, Weyman AE. An integrated mechanism to explain the systolic anterior motion of the mitral valve in hypertrophic cardiomyopathy based on echocardiographic observations. Am Heart J 1997; 113: 633-44.
    • (1997) Am Heart J , vol.113 , pp. 633-644
    • Jiang, L.1    Levine, R.A.2    King, M.E.3    Weyman, A.E.4
  • 41
    • 0026532927 scopus 로고
    • Diversity of structural mitral valve alterations in hypertrophic cardiomyopathy
    • [41] Klues HG, Maron BJ, Dollar AL, Roberts WC. Diversity of structural mitral valve alterations in hypertrophic cardiomyopathy. Circulation 1992; 85: 1651-61.
    • (1992) Circulation , vol.85 , pp. 1651-1661
    • Klues, H.G.1    Maron, B.J.2    Dollar, A.L.3    Roberts, W.C.4
  • 42
    • 0029149023 scopus 로고
    • Converting enzyme genotypes and left ventricular hypertrophy in patients with hypertrophic cardiomyopathy
    • [42] Lechin M, Quinones MA, Omran A. et al. Converting enzyme genotypes and left ventricular hypertrophy in patients with hypertrophic cardiomyopathy. Circulation 1995; 92: 1808-12.
    • (1995) Circulation , vol.92 , pp. 1808-1812
    • Lechin, M.1    Quinones, M.A.2    Omran, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.