메뉴 건너뛰기




Volumn 39, Issue 4, 2007, Pages 312-318

Characterization of familial and sporadic arrhythmogenic right ventricular cardiomyopathy in Finland

Author keywords

Arrhythmogenic right ventricular cardiomyopathy; Clinical characterization; Familial presentation; Genetics

Indexed keywords

ADULT; AGE DISTRIBUTION; ARRHYTHMOGENESIS; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; EXERCISE TEST; FAMILIAL DISEASE; FEMALE; FINLAND; HEART DILATATION; HEART RIGHT VENTRICLE DYSPLASIA; HEART VENTRICLE ARRHYTHMIA; HUMAN; INCIDENCE; MALE; MOLECULAR GENETICS; PRIORITY JOURNAL; RELATIVE;

EID: 34250200732     PISSN: 07853890     EISSN: 16512219     Source Type: Journal    
DOI: 10.1080/07853890701282003     Document Type: Article
Times cited : (1)

References (44)
  • 1
    • 0028347223 scopus 로고
    • Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International Society and Federation of Cardiology
    • McKenna WJ, Thiene G, Nava A, Fontaliran F, Blomstrom-Lundqvist C, Fontaine G, et al. Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International Society and Federation of Cardiology. Br Heart J. 1994;71:215-8.
    • (1994) Br Heart J , vol.71 , pp. 215-218
    • McKenna, W.J.1    Thiene, G.2    Nava, A.3    Fontaliran, F.4    Blomstrom-Lundqvist, C.5    Fontaine, G.6
  • 3
    • 0029787576 scopus 로고    scopus 로고
    • Arrhythmogenic right ventricular cardiomyopathy. Dysplasia, dystrophy or myocarditis?
    • Basso C, Thiene G, Corrado D, Angelini A, Nava A, Valente M. Arrhythmogenic right ventricular cardiomyopathy. Dysplasia, dystrophy or myocarditis? Circulation. 1996;94:983-91.
    • (1996) Circulation , vol.94 , pp. 983-991
    • Basso, C.1    Thiene, G.2    Corrado, D.3    Angelini, A.4    Nava, A.5    Valente, M.6
  • 4
    • 0032574681 scopus 로고    scopus 로고
    • Arrhythmogenic right ventricular cardiomyopathies. Clinical forms and main differential diagnoses
    • Fontaine G, Fontaliran F, Frank R. Arrhythmogenic right ventricular cardiomyopathies. Clinical forms and main differential diagnoses. Circulation. 1998;97:1532-5.
    • (1998) Circulation , vol.97 , pp. 1532-1535
    • Fontaine, G.1    Fontaliran, F.2    Frank, R.3
  • 5
    • 0023848617 scopus 로고
    • Right ventricular cardiomyopathy and sudden cardiac death in young people
    • Thiene G, Nava A, Corrado D, Rossi L, Pennelli N. Right ventricular cardiomyopathy and sudden cardiac death in young people. N Engl J Med. 1988;318:129-33.
    • (1988) N Engl J Med , vol.318 , pp. 129-133
    • Thiene, G.1    Nava, A.2    Corrado, D.3    Rossi, L.4    Pennelli, N.5
  • 6
    • 0030057106 scopus 로고    scopus 로고
    • Sudden death in young competitive athletes. Clinical, demographic, and pathological profiles
    • Maron BJ, Shirani J, Poliac LC, Mathenge R, Roberts WC, Mueller FO. Sudden death in young competitive athletes. Clinical, demographic, and pathological profiles. JAMA. 1996;276:199-204.
    • (1996) JAMA , vol.276 , pp. 199-204
    • Maron, B.J.1    Shirani, J.2    Poliac, L.C.3    Mathenge, R.4    Roberts, W.C.5    Mueller, F.O.6
  • 7
    • 0026568792 scopus 로고
    • Left ventricular involvement in right ventricular dysplasia
    • Pinamonti B, Sinagra G, Salvi A. Left ventricular involvement in right ventricular dysplasia. Am Heart J. 1992;123: 711-24.
    • (1992) Am Heart J , vol.123 , pp. 711-724
    • Pinamonti, B.1    Sinagra, G.2    Salvi, A.3
  • 8
    • 0032789401 scopus 로고    scopus 로고
    • Arrhythmogenic right ventricular dysplasia masquerading as dilated cardiomyopathy
    • Nemec J, Edwards BS, Osborn MJ, Edwards WD. Arrhythmogenic right ventricular dysplasia masquerading as dilated cardiomyopathy. Am J Cardiol. 1999;84:237-9.
    • (1999) Am J Cardiol , vol.84 , pp. 237-239
    • Nemec, J.1    Edwards, B.S.2    Osborn, M.J.3    Edwards, W.D.4
  • 9
    • 0037120964 scopus 로고    scopus 로고
    • Prospective evaluation of relatives for familial arrhytmogenic right ventricular cardiomyopathy/dysplasia reveals a need to broaden diagnostic criteria
    • Hamid MS, Norman M, Quraishi A, Firoozi S, Thaman R, Gimeno JR, et al. Prospective evaluation of relatives for familial arrhytmogenic right ventricular cardiomyopathy/dysplasia reveals a need to broaden diagnostic criteria. J Am Coll Cardiol. 2002;40:1445-50.
    • (2002) J Am Coll Cardiol , vol.40 , pp. 1445-1450
    • Hamid, M.S.1    Norman, M.2    Quraishi, A.3    Firoozi, S.4    Thaman, R.5    Gimeno, J.R.6
  • 10
    • 0028243281 scopus 로고
    • The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23-q24
    • Rampazzo A, Nava A, Danieli GA, Buja G, Daliento L, Fasoli G, et al. The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23-q24. Hum Mol Genet. 1994;3:959-62.
    • (1994) Hum Mol Genet , vol.3 , pp. 959-962
    • Rampazzo, A.1    Nava, A.2    Danieli, G.A.3    Buja, G.4    Daliento, L.5    Fasoli, G.6
  • 11
    • 0028807911 scopus 로고
    • A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43
    • Rampazzo A, Nava A, Erne P, Eberhard M, Vian E, Slomp P, et al. A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43. Hum Mol Genet. 1995;4:2151-4.
    • (1995) Hum Mol Genet , vol.4 , pp. 2151-2154
    • Rampazzo, A.1    Nava, A.2    Erne, P.3    Eberhard, M.4    Vian, E.5    Slomp, P.6
  • 12
  • 13
    • 0030724006 scopus 로고    scopus 로고
    • ARVD4, a new locus for arrhythmogenic right ventricular cardiomyopathy, maps to chromosome 2 long arm
    • Rampazzo A, Nava A, Miorin M, Fonderico P, Pope B, Tiso N, et al. ARVD4, a new locus for arrhythmogenic right ventricular cardiomyopathy, maps to chromosome 2 long arm. Genomics. 1997;45:259-63.
    • (1997) Genomics , vol.45 , pp. 259-263
    • Rampazzo, A.1    Nava, A.2    Miorin, M.3    Fonderico, P.4    Pope, B.5    Tiso, N.6
  • 14
    • 0032578962 scopus 로고    scopus 로고
    • Localization of a gene responsible for arrhythmogenic right ventricular dysplasia to chromosome 3p23
    • Ahmad F, Li D, Karibe A, Gonzales O, Tapsctt T, Hill R, Weilbaecher D, et al. Localization of a gene responsible for arrhythmogenic right ventricular dysplasia to chromosome 3p23. Circulation. 1998;98:2791-5.
    • (1998) Circulation , vol.98 , pp. 2791-2795
    • Ahmad, F.1    Li, D.2    Karibe, A.3    Gonzales, O.4    Tapsctt, T.5    Hill, R.6    Weilbaecher, D.7
  • 15
    • 0035253502 scopus 로고    scopus 로고
    • Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhytmogenic right ventricular cardiomyopathy type 2 (ARVD 2)
    • Tiso N, Stephan DA, Nava A, Bagattin A, Devaney JM, Stanchi F, et al. Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhytmogenic right ventricular cardiomyopathy type 2 (ARVD 2). Hum Mol Genet. 2001;10:189-94.
    • (2001) Hum Mol Genet , vol.10 , pp. 189-194
    • Tiso, N.1    Stephan, D.A.2    Nava, A.3    Bagattin, A.4    Devaney, J.M.5    Stanchi, F.6
  • 16
    • 0035969990 scopus 로고    scopus 로고
    • Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia
    • Laitinen PJ, Brown KM, Piippo K, Swan H, Devaney JM, Brahmbhatt B, et al. Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia. Circulation. 2001;103:485-90.
    • (2001) Circulation , vol.103 , pp. 485-490
    • Laitinen, P.J.1    Brown, K.M.2    Piippo, K.3    Swan, H.4    Devaney, J.M.5    Brahmbhatt, B.6
  • 17
    • 18644363134 scopus 로고    scopus 로고
    • Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy
    • Rampazzo A, Nava A, Malacrida S, Beffagna G, Bauce B, Rossi V, et al. Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet. 2002;71:1200-6.
    • (2002) Am J Hum Genet , vol.71 , pp. 1200-1206
    • Rampazzo, A.1    Nava, A.2    Malacrida, S.3    Beffagna, G.4    Bauce, B.5    Rossi, V.6
  • 18
    • 25844452812 scopus 로고    scopus 로고
    • Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations
    • Bauce B, Basso C, Rampazzo A, Beffagna G, Daliento L, Frigo G, et al. Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations. Eur Heart J. 2005;26:1666-75.
    • (2005) Eur Heart J , vol.26 , pp. 1666-1675
    • Bauce, B.1    Basso, C.2    Rampazzo, A.3    Beffagna, G.4    Daliento, L.5    Frigo, G.6
  • 19
    • 23244443601 scopus 로고    scopus 로고
    • Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy
    • Norman M, Simpson M, Mogensen J, Shaw A, Hughes S, Syrris P, et al. Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy. Circulation. 2005;112:636-42.
    • (2005) Circulation , vol.112 , pp. 636-642
    • Norman, M.1    Simpson, M.2    Mogensen, J.3    Shaw, A.4    Hughes, S.5    Syrris, P.6
  • 20
    • 11444264507 scopus 로고    scopus 로고
    • Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy
    • Gerull B, Heuser A, Wichter T, Paul M, Basson CT, McDermott DA, et al. Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nat Genet. 2004;36:1162-4.
    • (2004) Nat Genet , vol.36 , pp. 1162-1164
    • Gerull, B.1    Heuser, A.2    Wichter, T.3    Paul, M.4    Basson, C.T.5    McDermott, D.A.6
  • 21
    • 33644851952 scopus 로고    scopus 로고
    • Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy
    • Syrris P, Ward D, Asimaki A, Sen-Chowdhry S, Ebrahim HY, Evans A, et al. Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy. Circulation. 2006;113:356-64.
    • (2006) Circulation , vol.113 , pp. 356-364
    • Syrris, P.1    Ward, D.2    Asimaki, A.3    Sen-Chowdhry, S.4    Ebrahim, H.Y.5    Evans, A.6
  • 22
    • 33645787474 scopus 로고    scopus 로고
    • Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2
    • Dalal D, Molin LH, Piccini J, Tichnell C, James C, Bomma C, et al. Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2. Circulation. 2006;113:1641-9.
    • (2006) Circulation , vol.113 , pp. 1641-1649
    • Dalal, D.1    Molin, L.H.2    Piccini, J.3    Tichnell, C.4    James, C.5    Bomma, C.6
  • 23
    • 0032568477 scopus 로고    scopus 로고
    • Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21
    • Coonar AS, Protonotarios N, Tsatsopoulou A, Needham EWA, Houlston RS, Cliff S, et al. Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21. Circulation. 1998;97: 2049-58.
    • (1998) Circulation , vol.97 , pp. 2049-2058
    • Coonar, A.S.1    Protonotarios, N.2    Tsatsopoulou, A.3    Needham, E.W.A.4    Houlston, R.S.5    Cliff, S.6
  • 24
    • 0034679297 scopus 로고    scopus 로고
    • Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease)
    • McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, Anastasakis A, Coonar A, et al. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet. 2000;355:2119-24.
    • (2000) Lancet , vol.355 , pp. 2119-2124
    • McKoy, G.1    Protonotarios, N.2    Crosby, A.3    Tsatsopoulou, A.4    Anastasakis, A.5    Coonar, A.6
  • 25
    • 0031717898 scopus 로고    scopus 로고
    • Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy
    • Carvajal-Huerta L. Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy. J Am Acad Dermatol. 1998;39:418-21.
    • (1998) J Am Acad Dermatol , vol.39 , pp. 418-421
    • Carvajal-Huerta, L.1
  • 26
    • 0034326902 scopus 로고    scopus 로고
    • Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma
    • Norgett EE, Hatsell SJ, Carvajal-Huerta L, Cabezas JC, Common J, Purkis PE, et al. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet. 2000;9:2761-6.
    • (2000) Hum Mol Genet , vol.9 , pp. 2761-2766
    • Norgett, E.E.1    Hatsell, S.J.2    Carvajal-Huerta, L.3    Cabezas, J.C.4    Common, J.5    Purkis, P.E.6
  • 27
    • 0037811950 scopus 로고    scopus 로고
    • A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair
    • Alcalai R, Metzger S, Rosenheck S, Meiner V, Chajek-Shaul T. A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair. J Am Coll Cardiol. 2003;42:319-27.
    • (2003) J Am Coll Cardiol , vol.42 , pp. 319-327
    • Alcalai, R.1    Metzger, S.2    Rosenheck, S.3    Meiner, V.4    Chajek-Shaul, T.5
  • 28
    • 0030712343 scopus 로고    scopus 로고
    • Spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomyopathy/ dysplasia. A multicenter study
    • Corrado D, Basso C, Thiene G, McKenna WJ, Davies MJ, Fontaliran F, et al. Spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomyopathy/ dysplasia. A multicenter study. J Am Coll Cardiol. 1997;30:1512-20.
    • (1997) J Am Coll Cardiol , vol.30 , pp. 1512-1520
    • Corrado, D.1    Basso, C.2    Thiene, G.3    McKenna, W.J.4    Davies, M.J.5    Fontaliran, F.6
  • 29
    • 0032402906 scopus 로고    scopus 로고
    • Diagnostic value of plasma levels of brain natriuretic peptide in arrhythmogenic right ventricular dysplasia
    • Matsuo K, Nishikimi T, Yutani C, Kurita T, Shimigu W, Taguchi A, et al. Diagnostic value of plasma levels of brain natriuretic peptide in arrhythmogenic right ventricular dysplasia. Circulation. 1998;98:2433-40.
    • (1998) Circulation , vol.98 , pp. 2433-2440
    • Matsuo, K.1    Nishikimi, T.2    Yutani, C.3    Kurita, T.4    Shimigu, W.5    Taguchi, A.6
  • 30
    • 33644878722 scopus 로고    scopus 로고
    • Arrhythmogenic right ventricular dysplasia. A United States experience
    • Dalal D, Nasir K, Bomma C, Prakasa K, Tandri H, Piccini J, et al. Arrhythmogenic right ventricular dysplasia. A United States experience. Circulation. 2005;112:3823-32.
    • (2005) Circulation , vol.112 , pp. 3823-3832
    • Dalal, D.1    Nasir, K.2    Bomma, C.3    Prakasa, K.4    Tandri, H.5    Piccini, J.6
  • 31
    • 0026149704 scopus 로고
    • Standards for analysis of ventricular late potentials using high-resolution or signal-averaged electrocardiography. A statement by a Task Force Committee of the European Society of Cardiology, the American Heart Association, and the American College of Cardiology
    • Breithardt G, Cain ME, el Sherif N, Flowers N, Hombach V, Janse M, et al. Standards for analysis of ventricular late potentials using high-resolution or signal-averaged electrocardiography. A statement by a Task Force Committee of the European Society of Cardiology, the American Heart Association, and the American College of Cardiology. Circulation. 1991;83:1491-8.
    • (1991) Circulation , vol.83 , pp. 1491-1498
    • Breithardt, G.1    Cain, M.E.2    el Sherif, N.3    Flowers, N.4    Hombach, V.5    Janse, M.6
  • 33
    • 0035019206 scopus 로고    scopus 로고
    • MRI of the cardiomyopathies
    • Di Cesare E. MRI of the cardiomyopathies. Eur J Radiol. 2001;38:179-84.
    • (2001) Eur J Radiol , vol.38 , pp. 179-184
    • Di Cesare, E.1
  • 36
    • 0023241618 scopus 로고
    • A long term follow-up of 15 patients with arrhythmogenic right ventricular dysplasia
    • Blomström-Lundqvist C, Sabel KG, Olsson SB. A long term follow-up of 15 patients with arrhythmogenic right ventricular dysplasia. Br Heart J. 1987;58:477-88.
    • (1987) Br Heart J , vol.58 , pp. 477-488
    • Blomström-Lundqvist, C.1    Sabel, K.G.2    Olsson, S.B.3
  • 38
    • 0024418301 scopus 로고
    • Long-term follow-up in patients with arrhythmogenic right ventricular disease
    • Marcus FI, Fontaine GH, Frank R, Gallagher JJ, Reiter MJ. Long-term follow-up in patients with arrhythmogenic right ventricular disease. Eur Heart J. 1989;10 Suppl D:68-73.
    • (1989) Eur Heart J , vol.10 , Issue.SUPPL. D , pp. 68-73
    • Marcus, F.I.1    Fontaine, G.H.2    Frank, R.3    Gallagher, J.J.4    Reiter, M.J.5
  • 39
    • 0033662201 scopus 로고    scopus 로고
    • Clinical profile and long-term follow-up of 37 families with arrhythmogenic right ventricular cardiomyopathy and in their pedigrees
    • Nava A, Bauce B, Basso C, Muriago M, Rampazzo A, Villanova C, et al. Clinical profile and long-term follow-up of 37 families with arrhythmogenic right ventricular cardiomyopathy and in their pedigrees. J Am Coll Cardiol. 2000;36:2226-33.
    • (2000) J Am Coll Cardiol , vol.36 , pp. 2226-2233
    • Nava, A.1    Bauce, B.2    Basso, C.3    Muriago, M.4    Rampazzo, A.5    Villanova, C.6
  • 40
    • 0032861290 scopus 로고    scopus 로고
    • Arrhythmogenic right ventricular dysplasia/cardiomyopathy: Perspectives on disease
    • Norman MW, KcKenna WJ. Arrhythmogenic right ventricular dysplasia/cardiomyopathy: perspectives on disease. Z Kardiol. 1999;88:550-4.
    • (1999) Z Kardiol , vol.88 , pp. 550-554
    • Norman, M.W.1    KcKenna, W.J.2
  • 42
    • 0037847537 scopus 로고    scopus 로고
    • Clinical and electrophysiological differences between patients with arrhythmogenic right ventricular dysplasia and right ventricular outflow tract tachycardia
    • O'Donnell D, Cox D, Bourke J, Mitchell L, Furniss S. Clinical and electrophysiological differences between patients with arrhythmogenic right ventricular dysplasia and right ventricular outflow tract tachycardia. Eur Heart J. 2003;24:801-10.
    • (2003) Eur Heart J , vol.24 , pp. 801-810
    • O'Donnell, D.1    Cox, D.2    Bourke, J.3    Mitchell, L.4    Furniss, S.5
  • 44
    • 33645772930 scopus 로고    scopus 로고
    • Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy
    • van Tintelen JP, Entius MM, Bhuiyan ZA, Jongbloed R, Wiesfeld AC, Wilde AA, et al. Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circulation. 2006;113: 1650-8.
    • (2006) Circulation , vol.113 , pp. 1650-1658
    • van Tintelen, J.P.1    Entius, M.M.2    Bhuiyan, Z.A.3    Jongbloed, R.4    Wiesfeld, A.C.5    Wilde, A.A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.