메뉴 건너뛰기




Volumn 11, Issue 5, 1999, Pages 437-443

Recent advances in understanding the genetic etiology of congenital heart disease

Author keywords

[No Author keywords available]

Indexed keywords

ALAGILLE SYNDROME; CHROMOSOME DELETION; CONGENITAL HEART DISEASE; GENE LOCUS; GENOTYPE; HEART ARRHYTHMIA; HEART ATRIUM SEPTUM DEFECT; HEART DILATATION; HETEROTAXY SYNDROME; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; LONG QT SYNDROME; PHENOTYPE; PRIORITY JOURNAL; REVIEW;

EID: 0032826441     PISSN: 10408703     EISSN: None     Source Type: Journal    
DOI: 10.1097/00008480-199910000-00012     Document Type: Review
Times cited : (12)

References (52)
  • 1
    • 0028902929 scopus 로고
    • Mutations in the genes for cardiac troponin T and α-tropomyosin in hypertrophic cardiomyopathy
    • Watkins H, McKenna WJ, Thierfelder L, Suk HJ, Anan R, O'Donoghue A, et al.: Mutations in the genes for cardiac troponin T and α-tropomyosin in hypertrophic cardiomyopathy. N Engl J Med 1995, 332:1058-1064.
    • (1995) N Engl J Med , vol.332 , pp. 1058-1064
    • Watkins, H.1    McKenna, W.J.2    Thierfelder, L.3    Suk, H.J.4    Anan, R.5    O'Donoghue, A.6
  • 2
    • 0032580520 scopus 로고    scopus 로고
    • Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy
    • Niimura H, Bachinski LL, Sangwatanaroj S, Watkins H, Chudley AE, McKenna W, et al.: Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. N Engl J Med 1998, 338:1248-1257.
    • (1998) N Engl J Med , vol.338 , pp. 1248-1257
    • Niimura, H.1    Bachinski, L.L.2    Sangwatanaroj, S.3    Watkins, H.4    Chudley, A.E.5    McKenna, W.6
  • 3
    • 0032428460 scopus 로고    scopus 로고
    • Molecular genetic studies of familial hypertrophic cardiomyopathy
    • Seidman CE, Seidman JG: Molecular genetic studies of familial hypertrophic cardiomyopathy. Basic Res Cardiol 1998, 93(suppl 3):13-16.
    • (1998) Basic Res Cardiol , vol.93 , Issue.SUPPL. 3 , pp. 3-16
    • Seidman, C.E.1    Seidman, J.G.2
  • 4
    • 0032491158 scopus 로고    scopus 로고
    • Impact of laboratory molecular diagnosis on contemporary diagnostic criteria for genetically transmitted cardiovascular disease: Hypertrophic cardiomyopathy, long-QT syndrome, and Marfan syndrome
    • Maron BJ, Moller JH, Seidman CE, Vincent GM, Dietz HC, Moss AJ, et al.: Impact of laboratory molecular diagnosis on contemporary diagnostic criteria for genetically transmitted cardiovascular disease: hypertrophic cardiomyopathy, long-QT syndrome, and Marfan syndrome. Circulation 1998, 98:1460-1471. In this article, the authors review the clinical and molecular genetics of hypertrophic cardiomyopathy and also discuss the practical and ethical issues of molecular diagnosis for clinical purposes.
    • (1998) Circulation , vol.98 , pp. 1460-1471
    • Maron, B.J.1    Moller, J.H.2    Seidman, C.E.3    Vincent, G.M.4    Dietz, H.C.5    Moss, A.J.6
  • 5
    • 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: Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Engl J Med 1992, 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
  • 6
    • 0026629472 scopus 로고
    • Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the β-myosin heavy chain gene
    • Epatein 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. Circulation 1992, 86:345-352.
    • (1992) Circulation , vol.86 , pp. 345-352
    • Epatein, N.D.1    Cohn, G.M.2    Cyran, F.3    Fananapazir, L.4
  • 7
    • 0029166817 scopus 로고
    • Recent advances in the molecular genetics of hypertrophic cardiomyopathy
    • Marian AJ, Roberts R: Recent advances in the molecular genetics of hypertrophic cardiomyopathy. Circulation 1995, 92:1336-1347.
    • (1995) Circulation , vol.92 , pp. 1336-1347
    • Marian, A.J.1    Roberts, R.2
  • 9
    • 0032499634 scopus 로고    scopus 로고
    • Clinical features and prognostic implications of familial hypertrophic cardiomyopathy related to the cardiac myosin-binding protein C gene
    • Charron P, Dubourg O, Desnos M, Bennaceur M, Carrier L, Camproux A-C, et al.: Clinical features and prognostic implications of familial hypertrophic cardiomyopathy related to the cardiac myosin-binding protein C gene. Circulation 1998, 97:2230-2236.
    • (1998) Circulation , vol.97 , pp. 2230-2236
    • Charron, P.1    Dubourg, O.2    Desnos, M.3    Bennaceur, M.4    Carrier, L.5    Camproux, A.-C.6
  • 11
    • 0030920253 scopus 로고    scopus 로고
    • Dystrophinopathy, the expanding phenotype: Dystrophin abnormalities in X-linked dilated cardiomyopathy
    • Beggs AH: Dystrophinopathy, the expanding phenotype: dystrophin abnormalities in X-linked dilated cardiomyopathy. Circulation 1997, 95:2344-2347.
    • (1997) Circulation , vol.95 , pp. 2344-2347
    • Beggs, A.H.1
  • 16
    • 0032076955 scopus 로고    scopus 로고
    • Actin mutations in dilated cardiomyopathy, a heritable form of heart failure
    • Olson TM, Michels VV, Thibodeau SN, Tai Y-S, Keating MT: Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science 1998, 280:750-752. These investigators hypothesized that actin dysfunction would result in heart failure and that mutations in actin might cause dilated cardiomyopathy. They identified missense mutations of actin in two unrelated families with dilated cardiomyopathy. This report is the first to identify an autosomal disease-related gene (compared with an X-linked gene).
    • (1998) Science , vol.280 , pp. 750-752
    • Olson, T.M.1    Michels, V.V.2    Thibodeau, S.N.3    Tai, Y.-S.4    Keating, M.T.5
  • 17
    • 0032953645 scopus 로고    scopus 로고
    • Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter
    • Nezu J-I, Tamai I, Oku A, Ohashi R, Yabuuchi H, Hashimoto N, et al.: Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter. Nat Genet 1999, 21:91-94.
    • (1999) Nat Genet , vol.21 , pp. 91-94
    • Nezu, J.-I.1    Tamai, I.2    Oku, A.3    Ohashi, R.4    Yabuuchi, H.5    Hashimoto, N.6
  • 19
    • 0031885093 scopus 로고    scopus 로고
    • Familial dilated cardiomyopathy: Cardiac abnormalities are common in asymptomatic relatives and may represent early disease
    • Baig MK, Goldman JH, Caforio ALP, Coonar AS, Keeling PJ, McKenna WJ: Familial dilated cardiomyopathy: cardiac abnormalities are common in asymptomatic relatives and may represent early disease. J Am Coll Cardiol 1998, 31:195-201. The investigators prospectively examined asymptomatic relatives of index cases with dilated cardiomyopathy for echocardiographic changes. Nearly one third of relatives were found to have echocardiographic changes; some went on to develop dilated cardiomyopathy. This study emphasizes that dilated cardiomyopathy is more frequently familial than previously considered. The results lead to unanswered questions about the appropriate screening of family members when an index case is first diagnosed.
    • (1998) J Am Coll Cardiol , vol.31 , pp. 195-201
    • Baig, M.K.1    Goldman, J.H.2    Caforio, A.L.P.3    Coonar, A.S.4    Keeling, P.J.5    McKenna, W.J.6
  • 20
    • 0029847602 scopus 로고    scopus 로고
    • Multiple mechanisms in the long-QT syndrome: Current knowledge, gaps and future directions
    • Roden DM, Lazzara R, Rosen M, Schwartz PJ, Towbin J, Vincent GM: Multiple mechanisms in the long-QT syndrome: current knowledge, gaps and future directions. Circulation 1996, 94:1996-2012.
    • (1996) Circulation , vol.94 , pp. 1996-2012
    • Roden, D.M.1    Lazzara, R.2    Rosen, M.3    Schwartz, P.J.4    Towbin, J.5    Vincent, G.M.6
  • 21
    • 0030981050 scopus 로고    scopus 로고
    • Molecular genetics of long QT syndrome from genes to patients
    • Wang Q, Chen Q, Li H, Towbin J: Molecular genetics of long QT syndrome from genes to patients. Curr Opin Cardiol 1997, 12:310-320.
    • (1997) Curr Opin Cardiol , vol.12 , pp. 310-320
    • Wang, Q.1    Chen, Q.2    Li, H.3    Towbin, J.4
  • 22
    • 0033514256 scopus 로고    scopus 로고
    • Genetic and molecular basis of cardiac arrhythmias: Impact on clinical management: Parts I and II
    • Priori SG, Barhanin J, Hauer RNW, Haverkamp W, Jongsma HJ, Kleber AG, et al.: Genetic and molecular basis of cardiac arrhythmias: impact on clinical management: parts I and II. Circulation 1999, 99:518-528.
    • (1999) Circulation , vol.99 , pp. 518-528
    • Priori, S.G.1    Barhanin, J.2    Hauer, R.N.W.3    Haverkamp, W.4    Jongsma, H.J.5    Kleber, A.G.6
  • 23
    • 0026759352 scopus 로고
    • The spectrum of symptoms and QT intervals in carriers of the gene for the long-QT syndrome
    • Vincent GM, Timothy KW, Leppert M, Keating M: The spectrum of symptoms and QT intervals in carriers of the gene for the long-QT syndrome. N Engl J Med 1992, 327:846-852.
    • (1992) N Engl J Med , vol.327 , pp. 846-852
    • Vincent, G.M.1    Timothy, K.W.2    Leppert, M.3    Keating, M.4
  • 24
    • 0033514263 scopus 로고    scopus 로고
    • Low penetrance in the long-QT syndrome
    • Priori SG, Napolitano C, Schwartz PJ: Low penetrance in the long-QT syndrome. Circulation 1999, 99:529-533. In this study, the authors found that 33% of asymptomatic relatives (with normal electrocardiograms) of "sporadic" cases with the long QT syndrome carried the mutation. Thus, the penetrance of the disease is lower than previously considered. The investigators also highlight the inadequacy of clinical diagnosis alone in the absence of molecular confirmation. However, they do not fully address the present unavailability and inadequacy of molecular diagnostic tests or the dilemma of treatment for the older, asymptomatic mutation carrier.
    • (1999) Circulation , vol.99 , pp. 529-533
    • Priori, S.G.1    Napolitano, C.2    Schwartz, P.J.3
  • 25
    • 0028861892 scopus 로고
    • ECG T-wave patterns in genetically distinct forms of the hereditary long QT syndrome
    • Moss AJ, Zareba W, Benhorin J, Locati EH, Hall WJ, Robinson JL, et al.: ECG T-wave patterns in genetically distinct forms of the hereditary long QT syndrome. Circulation 1995, 92:2929-2934.
    • (1995) Circulation , vol.92 , pp. 2929-2934
    • Moss, A.J.1    Zareba, W.2    Benhorin, J.3    Locati, E.H.4    Hall, W.J.5    Robinson, J.L.6
  • 26
    • 0032189139 scopus 로고    scopus 로고
    • Influence of the genotype on the clinical course of the long-QT syndrome
    • Zareba W, Moss AJ, Schwartz PJ, Vincent GM, Robinson JL, Priori SG, et al.: Influence of the genotype on the clinical course of the long-QT syndrome. N Engl J Med 1998, 339:960-965. The authors of this study compare the frequency of cardiac events within a large cohort of patients with long QT syndrome based on the length of their QTc and specific genotype. The patients whose electrocardiogram revealed a longer QTc were at greater risk for cardiac events, whereas patients with mutations in KvLQT1 or HERG were at greater risk for earlier cardiac events, but all three genotypes (KvLQT1, HERG, and SCN5A) had the same cumulative mortality. The strength of this article lies in the large numbers of patients examined, but it should be remembered that this cohort comes from only 38 families who share a more common genetic background than an equivalent number of unrelated people. The genetic background could also influence outcome.
    • (1998) N Engl J Med , vol.339 , pp. 960-965
    • Zareba, W.1    Moss, A.J.2    Schwartz, P.J.3    Vincent, G.M.4    Robinson, J.L.5    Priori, S.G.6
  • 30
    • 0032578962 scopus 로고    scopus 로고
    • Localization of a gene responsible for arrhythmogenic right ventricular dysplasia to chromosome 3p23
    • Ahmad F, Li D, Karibe A, Gonzalez O, Tapscott T, Hill R, et al.: Localization of a gene responsible for arrhythmogenic right ventricular dysplasia to chromosome 3p23. Circulation 1998, 98:2791-2795.
    • (1998) Circulation , vol.98 , pp. 2791-2795
    • Ahmad, F.1    Li, D.2    Karibe, A.3    Gonzalez, O.4    Tapscott, T.5    Hill, R.6
  • 32
    • 0032546384 scopus 로고    scopus 로고
    • Genetic basis and molecular mechanism for idiopathic ventricular fibrillation
    • Chen Q, Kirsch GE, Zhang D, Brugada R, Brugada J, Brugada P, et al.: Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature 1998, 392:293-296. These investigators identify the first disease-related gene in a unique patient population with asymptomatic electrocardiogram changes and ventricular fibrillation. They demonstrate that although the disease gene is the same as that in some patients with long QT syndrome, the families with ventricular fibrillation have a unique syndrome. This report contributes to the evidence that familial arrhythmias are caused by mutations in ion channels.
    • (1998) Nature , vol.392 , pp. 293-296
    • Chen, Q.1    Kirsch, G.E.2    Zhang, D.3    Brugada, R.4    Brugada, J.5    Brugada, P.6
  • 37
    • 0032568480 scopus 로고    scopus 로고
    • Reduced penetrance, variable expressivity, and genetic heterogeneity of familial atrial septal defects
    • Benson DW, Sharkey A, Fatkin D, Lang P, Basson CT, McDonough B, et al.: Reduced penetrance, variable expressivity, and genetic heterogeneity of familial atrial septal defects. Circulation 1998, 97:2043-2048.
    • (1998) Circulation , vol.97 , pp. 2043-2048
    • Benson, D.W.1    Sharkey, A.2    Fatkin, D.3    Lang, P.4    Basson, C.T.5    McDonough, B.6
  • 38
    • 0032479573 scopus 로고    scopus 로고
    • Congenital heart disease caused by mutations in the transcription factor NkX2-5
    • Schott JJ, Benson DW, Basson CT, Pease W, Silberbach GM, Moak JP, et al.: Congenital heart disease caused by mutations in the transcription factor NkX2-5. Science 1998, 281:108-111. In this study, the authors use the classic techniques of linkage analysis and candidate gene screening to identify the first disease-related gene for nonsyndromic congenital heart disease, ie, atrial septal defects with conduction abnormalities.
    • (1998) Science , vol.281 , pp. 108-111
    • Schott, J.J.1    Benson, D.W.2    Basson, C.T.3    Pease, W.4    Silberbach, G.M.5    Moak, J.P.6
  • 39
    • 0031132215 scopus 로고    scopus 로고
    • Chromosome 22q11 deletion syndrome: An update and review for the primary pediatrician
    • Thomas JA, Graham JM: Chromosome 22q11 deletion syndrome: an update and review for the primary pediatrician. Clin Pediatr 1997, 36:253-266.
    • (1997) Clin Pediatr , vol.36 , pp. 253-266
    • Thomas, J.A.1    Graham, J.M.2
  • 40
    • 0000169321 scopus 로고    scopus 로고
    • The genetic basis of conotruncal cardiac defects: The chromosome 22q11.2 deletion
    • Edited by Harvey RP, Rosenthal N. San Diego: Academic Press
    • Emanuel BS, Budarf ML, Scambler PJ: The genetic basis of conotruncal cardiac defects: the chromosome 22q11.2 deletion. In Heart Development, edn 26. Edited by Harvey RP, Rosenthal N. San Diego: Academic Press; 1999:463-478.
    • (1999) Heart Development, Edn 26 , pp. 463-478
    • Emanuel, B.S.1    Budarf, M.L.2    Scambler, P.J.3
  • 41
    • 16944364802 scopus 로고    scopus 로고
    • Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: A European collaborative study
    • Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, et al.: Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 1997, 34:798-804.
    • (1997) J Med Genet , vol.34 , pp. 798-804
    • Ryan, A.K.1    Goodship, J.A.2    Wilson, D.I.3    Philip, N.4    Levy, A.5    Seidel, H.6
  • 42
  • 44
    • 0030960331 scopus 로고    scopus 로고
    • Detection of an atypical 22q11 deletion that has no overlap with the DiGeorge syndrome critical region
    • O'Donnell H, McKeown C, Gould C, Morrow B, Scambler P: Detection of an atypical 22q11 deletion that has no overlap with the DiGeorge syndrome critical region. Am J Hum Genet 1997, 60:1544-1548.
    • (1997) Am J Hum Genet , vol.60 , pp. 1544-1548
    • O'Donnell, H.1    McKeown, C.2    Gould, C.3    Morrow, B.4    Scambler, P.5
  • 47
    • 0033582626 scopus 로고    scopus 로고
    • A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects
    • Yamagishi H, Garg V, Matsuoka R, Thomas T, Srivastava D: A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects. Science 1999, 283:1158-1161. In this study, the authors report on a unique patient with an atypical deletion of 22q11 that provides some evidence that the gene UFDL1 may be disease-related in the 22q11 deletion syndrome. Evidence supporting this hypothesis includes expression studies of UFDL1 in the mouse embryo and experiments implicating UFDL1 in the same developmental pathway as d-Hand. Most investigators in this field do not consider this hypothesis to be definitive and believe further investigations are required.
    • (1999) Science , vol.283 , pp. 1158-1161
    • Yamagishi, H.1    Garg, V.2    Matsuoka, R.3    Thomas, T.4    Srivastava, D.5
  • 48
    • 0033000465 scopus 로고    scopus 로고
    • HAND proteins: Molecular mediators of cardiac development and congenital heart disease
    • Srivastava D: HAND proteins: molecular mediators of cardiac development and congenital heart disease. Trends Cardiovasc Med 1999, 9:11-18.
    • (1999) Trends Cardiovasc Med , vol.9 , pp. 11-18
    • Srivastava, D.1
  • 49
    • 0038875342 scopus 로고    scopus 로고
    • Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1
    • Li L, Krantz ID, Deng Y, Genin A, Banta AB, Collins CC, et al.: Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat Genet 1997, 16:243-251.
    • (1997) Nat Genet , vol.16 , pp. 243-251
    • Li, L.1    Krantz, I.D.2    Deng, Y.3    Genin, A.4    Banta, A.B.5    Collins, C.C.6
  • 50
    • 0030914459 scopus 로고    scopus 로고
    • Mutations in the human Jagged1 gene are responsible for Alagille syndrome
    • Oda T, Elkahloun AG, Pike BL, Okajima K, Krantz ID, Genin A, et al.: Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nat Genet 1997, 16:235-242.
    • (1997) Nat Genet , vol.16 , pp. 235-242
    • Oda, T.1    Elkahloun, A.G.2    Pike, B.L.3    Okajima, K.4    Krantz, I.D.5    Genin, A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.