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Volumn 7, Issue 8, 2012, Pages

Scn5a mutations in brugada syndrome are associated with increased cardiac dimensions and reduced contractility

Author keywords

[No Author keywords available]

Indexed keywords

SODIUM CHANNEL NAV1.5;

EID: 84864493050     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0042037     Document Type: Article
Times cited : (71)

References (39)
  • 4
    • 0037428063 scopus 로고    scopus 로고
    • A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill
    • Groenewegen AW, Firouzi M, Bezzina CR, Vliex S, van Langen IM, et al. ((2003)) A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill. Circ Res 92:: 14-22.
    • (2003) Circ Res , vol.92 , pp. 14-22
    • Groenewegen, A.W.1    Firouzi, M.2    Bezzina, C.R.3    Vliex, S.4    van Langen, I.M.5
  • 5
    • 0037154288 scopus 로고    scopus 로고
    • Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block
    • Wang DW, Viswanathan PC, Balser JR, George AL, Benson DW, ((2002)) Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block. Circulation 105:: 341-346.
    • (2002) Circulation , vol.105 , pp. 341-346
    • Wang, D.W.1    Viswanathan, P.C.2    Balser, J.R.3    George, A.L.4    Benson, D.W.5
  • 6
    • 0242317397 scopus 로고    scopus 로고
    • Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A)
    • Benson DW, Wang DW, Dyment M, Knilans TK, Fish FA, et al. ((2003)) Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). J Clin Invest 112:: 1019-1028.
    • (2003) J Clin Invest , vol.112 , pp. 1019-1028
    • Benson, D.W.1    Wang, D.W.2    Dyment, M.3    Knilans, T.K.4    Fish, F.A.5
  • 7
    • 73049097840 scopus 로고    scopus 로고
    • Cardiac sodium channel Nav1.5 and interacting proteins: physiology and pathophysiology
    • Abriel H, ((2010)) Cardiac sodium channel Nav1.5 and interacting proteins: physiology and pathophysiology. J Mol Cell Cardiol 48:: 2-11.
    • (2010) J Mol Cell Cardiol , vol.48 , pp. 2-11
    • Abriel, H.1
  • 8
    • 12544257550 scopus 로고    scopus 로고
    • Sodium channel mutations and susceptibility to heart failure and atrial fibrillation
    • Olson TM, Michels VV, Ballew JD, Reyna SP, Karst ML, et al. ((2005)) Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. JAMA 293:: 447-454.
    • (2005) JAMA , vol.293 , pp. 447-454
    • Olson, T.M.1    Michels, V.V.2    Ballew, J.D.3    Reyna, S.P.4    Karst, M.L.5
  • 9
    • 27844591399 scopus 로고    scopus 로고
    • Right ventricular fibrosis and conduction delay in a patient with clinical signs of Brugada syndrome: a combined electrophysiological, genetic, histopathologic, and computational study
    • Coronel R, Casini S, Koopmann TT, Wilms-Schopman FJG, Verkerk AO, et al. ((2005)) Right ventricular fibrosis and conduction delay in a patient with clinical signs of Brugada syndrome: a combined electrophysiological, genetic, histopathologic, and computational study. Circulation 112:: 2769-2777.
    • (2005) Circulation , vol.112 , pp. 2769-2777
    • Coronel, R.1    Casini, S.2    Koopmann, T.T.3    Wilms-Schopman, F.J.G.4    Verkerk, A.O.5
  • 10
    • 74449093486 scopus 로고    scopus 로고
    • Mechanism of right precordial ST-segment elevation in structural heart disease: excitation failure by current-to-load mismatch
    • Hoogendijk MG, Potse M, Linnenbank AC, Verkerk AO, den Ruijter HM, et al. ((2010)) Mechanism of right precordial ST-segment elevation in structural heart disease: excitation failure by current-to-load mismatch. Heart Rhythm 7:: 238-248.
    • (2010) Heart Rhythm , vol.7 , pp. 238-248
    • Hoogendijk, M.G.1    Potse, M.2    Linnenbank, A.C.3    Verkerk, A.O.4    den Ruijter, H.M.5
  • 11
    • 0037423552 scopus 로고    scopus 로고
    • Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system
    • Bezzina CR, Rook MB, Groenewegen WA, Herfst LJ, van der Wal AC, et al. ((2003)) Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system. Circ Res 92:: 159-168.
    • (2003) Circ Res , vol.92 , pp. 159-168
    • Bezzina, C.R.1    Rook, M.B.2    Groenewegen, W.A.3    Herfst, L.J.4    van der Wal, A.C.5
  • 12
    • 33644786429 scopus 로고    scopus 로고
    • Cardiac histological substrate in patients with clinical phenotype of Brugada syndrome
    • Frustaci A, Priori SG, Pieroni M, Chimenti C, Napolitano C, et al. ((2005)) Cardiac histological substrate in patients with clinical phenotype of Brugada syndrome. Circulation 112:: 3680-3687.
    • (2005) Circulation , vol.112 , pp. 3680-3687
    • Frustaci, A.1    Priori, S.G.2    Pieroni, M.3    Chimenti, C.4    Napolitano, C.5
  • 13
    • 70349309539 scopus 로고    scopus 로고
    • Absence of pathognomonic or inflammatory patterns in cardiac biopsies from patients with Brugada syndrome
    • Zumhagen S, Spieker T, Rolinck J, Baba HA, Breithardt G, et al. ((2009)) Absence of pathognomonic or inflammatory patterns in cardiac biopsies from patients with Brugada syndrome. Circ Arrhythm Electrophysiol 2:: 16-23.
    • (2009) Circ Arrhythm Electrophysiol , vol.2 , pp. 16-23
    • Zumhagen, S.1    Spieker, T.2    Rolinck, J.3    Baba, H.A.4    Breithardt, G.5
  • 15
    • 78650097232 scopus 로고    scopus 로고
    • Spontaneous type-1 ECG pattern is associated with cardiovascular magnetic resonance imaging changes in Brugada syndrome
    • Papavassiliu T, Veltmann C, Doesch C, Haghi D, Germans T, et al. ((2010)) Spontaneous type-1 ECG pattern is associated with cardiovascular magnetic resonance imaging changes in Brugada syndrome. Heart Rhythm 7:: 1790-1796.
    • (2010) Heart Rhythm , vol.7 , pp. 1790-1796
    • Papavassiliu, T.1    Veltmann, C.2    Doesch, C.3    Haghi, D.4    Germans, T.5
  • 16
    • 0037301738 scopus 로고    scopus 로고
    • Abnormal response to sodium channel blockers in patients with Brugada syndrome: augmented localised wall motion abnormalities in the right ventricular outflow tract region detected by electron beam computed tomography
    • Takagi M, Aihara N, Kuribayashi S, Taguchi A, Kurita T, et al. ((2003)) Abnormal response to sodium channel blockers in patients with Brugada syndrome: augmented localised wall motion abnormalities in the right ventricular outflow tract region detected by electron beam computed tomography. Heart 89:: 169-174.
    • (2003) Heart , vol.89 , pp. 169-174
    • Takagi, M.1    Aihara, N.2    Kuribayashi, S.3    Taguchi, A.4    Kurita, T.5
  • 17
    • 70349437385 scopus 로고    scopus 로고
    • Magnetic resonance investigations in Brugada syndrome reveal unexpectedly high rate of structural abnormalities
    • Catalano O, Antonaci S, Moro G, Mussida M, Frascaroli M, et al. ((2009)) Magnetic resonance investigations in Brugada syndrome reveal unexpectedly high rate of structural abnormalities. Eur Heart J 30:: 2241-2248.
    • (2009) Eur Heart J , vol.30 , pp. 2241-2248
    • Catalano, O.1    Antonaci, S.2    Moro, G.3    Mussida, M.4    Frascaroli, M.5
  • 18
    • 77449091606 scopus 로고    scopus 로고
    • SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome
    • Probst V, Wilde AAM, Barc J, Sacher F, Babuty D, et al. ((2009)) SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome. Circ Cardiovasc Genet 2:: 552-557.
    • (2009) Circ Cardiovasc Genet , vol.2 , pp. 552-557
    • Probst, V.1    Wilde, A.A.M.2    Barc, J.3    Sacher, F.4    Babuty, D.5
  • 19
    • 0033533990 scopus 로고    scopus 로고
    • A single Na+ channel mutation causing both Long-QT and Brugada syndromes
    • Bezzina C, Veldkamp MW, van Den Berg MP, Postma AV, Rook MB, et al. ((1999)) A single Na+ channel mutation causing both Long-QT and Brugada syndromes. Circ Res 85:: 1206-1213.
    • (1999) Circ Res , vol.85 , pp. 1206-1213
    • Bezzina, C.1    Veldkamp, M.W.2    van Den Berg, M.P.3    Postma, A.V.4    Rook, M.B.5
  • 20
    • 21144438184 scopus 로고    scopus 로고
    • A mutation in the human cardiac sodium channel (E161K) contributes to sick sinus syndrome, conduction disease and Brugada syndrome in two families
    • Smits JPP, Koopmann TT, Wilders R, Veldkamp MW, Opthof T, et al. ((2005)) A mutation in the human cardiac sodium channel (E161K) contributes to sick sinus syndrome, conduction disease and Brugada syndrome in two families. J Mol Cell Cardiol 38:: 969-981.
    • (2005) J Mol Cell Cardiol , vol.38 , pp. 969-981
    • Smits, J.P.P.1    Koopmann, T.T.2    Wilders, R.3    Veldkamp, M.W.4    Opthof, T.5
  • 21
  • 22
    • 0021246433 scopus 로고
    • Chronic oral toxicity and oncogenicity studies of flecainide, an antiarrhythmic, in rats and mice
    • Case MT, Sibinski LJ, Steffen GR, ((1984)) Chronic oral toxicity and oncogenicity studies of flecainide, an antiarrhythmic, in rats and mice. Toxicol Appl Pharmacol 73:: 232-242.
    • (1984) Toxicol Appl Pharmacol , vol.73 , pp. 232-242
    • Case, M.T.1    Sibinski, L.J.2    Steffen, G.R.3
  • 23
    • 20244376320 scopus 로고    scopus 로고
    • Mouse model of SCN5A-linked hereditary Lenegre's disease: age-related conduction slowing and myocardial fibrosis
    • Royer A, van Veen TA, Le Bouter S, Marionneau C, Griol-Charhbili V, et al. ((2005)) Mouse model of SCN5A-linked hereditary Lenegre's disease: age-related conduction slowing and myocardial fibrosis. Circulation 111:: 1738-1746.
    • (2005) Circulation , vol.111 , pp. 1738-1746
    • Royer, A.1    van Veen, T.A.2    Le Bouter, S.3    Marionneau, C.4    Griol-Charhbili, V.5
  • 24
    • 33845708766 scopus 로고    scopus 로고
    • Overlap syndrome of cardiac sodium channel disease in mice carrying the equivalent mutation of human SCN5A-1795insD
    • Remme CA, Verkerk AO, Nuyens D, van Ginneken ACG, van Brunschot S, et al. ((2006)) Overlap syndrome of cardiac sodium channel disease in mice carrying the equivalent mutation of human SCN5A-1795insD. Circulation 114:: 2584-2594.
    • (2006) Circulation , vol.114 , pp. 2584-2594
    • Remme, C.A.1    Verkerk, A.O.2    Nuyens, D.3    van Ginneken, A.C.G.4    van Brunschot, S.5
  • 25
    • 76749162786 scopus 로고    scopus 로고
    • Tubulin polymerization modifies cardiac sodium channel expression and gating
    • Casini S, Tan HL, Demirayak I, Remme CA, Amin AS, et al. ((2010)) Tubulin polymerization modifies cardiac sodium channel expression and gating. Cardiovasc Res 85:: 691-700.
    • (2010) Cardiovasc Res , vol.85 , pp. 691-700
    • Casini, S.1    Tan, H.L.2    Demirayak, I.3    Remme, C.A.4    Amin, A.S.5
  • 26
    • 33747425933 scopus 로고    scopus 로고
    • Cardiac sodium channel Nav1.5 is regulated by a multiprotein complex composed of syntrophins and dystrophin
    • Gavillet B, Rougier J, Domenighetti AA, Behar R, Boixel C, et al. ((2006)) Cardiac sodium channel Nav1.5 is regulated by a multiprotein complex composed of syntrophins and dystrophin. Circ Res 99:: 407-414.
    • (2006) Circ Res , vol.99 , pp. 407-414
    • Gavillet, B.1    Rougier, J.2    Domenighetti, A.A.3    Behar, R.4    Boixel, C.5
  • 27
    • 48249148221 scopus 로고    scopus 로고
    • Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex
    • Ueda K, Valdivia C, Medeiros-Domingo A, Tester DJ, Vatta M, et al. ((2008)) Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex. Proc Natl Acad Sci 105:: 9355-9360.
    • (2008) Proc Natl Acad Sci , vol.105 , pp. 9355-9360
    • Ueda, K.1    Valdivia, C.2    Medeiros-Domingo, A.3    Tester, D.J.4    Vatta, M.5
  • 28
    • 0038707943 scopus 로고    scopus 로고
    • Cardiac chamber formation: development, genes, and evolution
    • Moorman AF, Christoffels VM, ((2003)) Cardiac chamber formation: development, genes, and evolution. Physiol Rev 83:: 1223-1267.
    • (2003) Physiol Rev , vol.83 , pp. 1223-1267
    • Moorman, A.F.1    Christoffels, V.M.2
  • 29
    • 0035893688 scopus 로고    scopus 로고
    • The sodium channel β-subunit SCN3B modulates the kinetics of SCN5a and is expressed heterogeneously in sheep heart
    • Fahmi AI, Patel M, Stevens EB, Fowden AL, John JE, et al. ((2001)) The sodium channel β-subunit SCN3B modulates the kinetics of SCN5a and is expressed heterogeneously in sheep heart. J Physiol 537:: 693-700.
    • (2001) J Physiol , vol.537 , pp. 693-700
    • Fahmi, A.I.1    Patel, M.2    Stevens, E.B.3    Fowden, A.L.4    John, J.E.5
  • 30
    • 45749090058 scopus 로고    scopus 로고
    • Sodium channel beta1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans
    • Watanabe H, Koopmann TT, Le Scouarnec S, Yang T, Ingram CR, et al. ((2008)) Sodium channel beta1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. J Clin Invest 118:: 2260-2268.
    • (2008) J Clin Invest , vol.118 , pp. 2260-2268
    • Watanabe, H.1    Koopmann, T.T.2    Le Scouarnec, S.3    Yang, T.4    Ingram, C.R.5
  • 31
    • 36049001507 scopus 로고    scopus 로고
    • Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias
    • London B, Michalec M, Mehdi H, Zhu X, Kerchner L, et al. ((2007)) Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias. Circulation 116:: 2260-2268.
    • (2007) Circulation , vol.116 , pp. 2260-2268
    • London, B.1    Michalec, M.2    Mehdi, H.3    Zhu, X.4    Kerchner, L.5
  • 32
    • 0038787546 scopus 로고    scopus 로고
    • Comparison of right ventricular volume measurements between axial and short axis orientation using steady-state free precession magnetic resonance imaging
    • Alfakih K, Plein S, Bloomer T, Jones T, Ridgway J, et al. ((2003)) Comparison of right ventricular volume measurements between axial and short axis orientation using steady-state free precession magnetic resonance imaging. J Magn Reson Imaging 18:: 25-32.
    • (2003) J Magn Reson Imaging , vol.18 , pp. 25-32
    • Alfakih, K.1    Plein, S.2    Bloomer, T.3    Jones, T.4    Ridgway, J.5
  • 34
    • 76449089572 scopus 로고    scopus 로고
    • Local depolarization abnormalities are the dominant pathophysiologic mechanism for the type-1 ECG in Brugada syndrome: a study of electrocardiograms, body surface potential maps and vectorcardiograms during ajmaline provocation
    • Postema PG, van Dessel PFHM, Kors JA, Linnenbank AC, van Herpen G, et al. ((2010)) Local depolarization abnormalities are the dominant pathophysiologic mechanism for the type-1 ECG in Brugada syndrome: a study of electrocardiograms, body surface potential maps and vectorcardiograms during ajmaline provocation. J Am Coll Cardiol 55:789-797.
    • (2010) J Am Coll Cardiol , vol.55 , pp. 789-797
    • Postema, P.G.1    van Dessel, P.F.H.M.2    Kors, J.A.3    Linnenbank, A.C.4    van Herpen, G.5
  • 36
    • 78650215892 scopus 로고    scopus 로고
    • Cardiac-resynchronization therapy for mild-to-moderate heart failure. N Engl J Med
    • Tang AS, Wells GA, Talajic M, Sheldon R, Connolly S, et al. ((2010)) Cardiac-resynchronization therapy for mild-to-moderate heart failure. N Engl J Med. 363:: 2385-2395.
    • (2010) , vol.363 , pp. 2385-2395
    • Tang, A.S.1    Wells, G.A.2    Talajic, M.3    Sheldon, R.4    Connolly, S.5
  • 37
    • 81855206198 scopus 로고    scopus 로고
    • Right ventricular pacing improves hemodynamics in right ventricular failure from pressure overload: an open observational proof-of-principle study in patients with chronic thromboembolic pulmonary hypertension
    • Hardziyenka M, Surie S, de GrootJR, de Bruin-Bon HACMR, Knops RE, et al. ((2011)) Right ventricular pacing improves hemodynamics in right ventricular failure from pressure overload: an open observational proof-of-principle study in patients with chronic thromboembolic pulmonary hypertension. Europace 13:: 1753-1759.
    • (2011) Europace , vol.13 , pp. 1753-1759
    • Hardziyenka, M.1    Surie, S.2    de Groot, J.R.3    de Bruin-Bon, H.A.C.M.R.4    Knops, R.E.5
  • 38
    • 79954629348 scopus 로고    scopus 로고
    • Prevention of ventricular fibrillation episodes in Brugada syndrome by catheter ablation over the anterior right ventricular outflow trac epicardium
    • Nademanee K, Veerakul G, Chandanamattha P, Chaothawee L, Ariyachaipanich A, et al. ((2011)) Prevention of ventricular fibrillation episodes in Brugada syndrome by catheter ablation over the anterior right ventricular outflow trac epicardium. Circulation 123:: 1270-1279.
    • (2011) Circulation , vol.123 , pp. 1270-1279
    • Nademanee, K.1    Veerakul, G.2    Chandanamattha, P.3    Chaothawee, L.4    Ariyachaipanich, A.5
  • 39
    • 33846627787 scopus 로고    scopus 로고
    • Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death
    • Antzelevitch C, Pollevick GD, Cordeiro JM, Casis O, Sanguinetti MC, et al. ((2007)) Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death. Circulation 115:: 442-449.
    • (2007) Circulation , vol.115 , pp. 442-449
    • Antzelevitch, C.1    Pollevick, G.D.2    Cordeiro, J.M.3    Casis, O.4    Sanguinetti, M.C.5


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