Multifocal ectopic Purkinje-related premature contractions: A new SCN5A-related cardiac channelopathy

Journal of the American College of Cardiology

Volumn 60, Issue 2, 2012, Pages 144-156

  Laurent, Gabriel ^a   Saal, Samuel ^b   Amarouch, Mohamed Yassine ^c,d   Béziau, Delphine M ^c,d   Marsman, Roos F J ^e   Faivre, Laurence ^b   Barc, Julien ^c,d   Dina, Christian ^c,d   Bertaux, Geraldine ^a   Barthez, Olivier ^a   Thauvin Robinet, Christel ^b   Charron, Philippe ^c   Fressart, Véronique ^f   Maltret, Alice ^g   Villain, Elisabeth ^g   Baron, Estelle ^c,d   Mérot, Jean ^c,d   Turpault, Rodolphe ^c,d   Coudière, Yves ^c,d   Charpentier, Flavien ^c,d,h   Schott, Jean Jacques ^c,d,h   Loussouarn, Gildas ^c,d   Wilde, Arthur A M ^e   Wolf, Jean Eric ^a   Baró, Isabelle ^c,d   Kyndt, Florence ^c,d,i   Probst, Vincent ^c,d,h   more..

^a HÔPITAL DU BOCAGE   (France)

^b Medical University of Dijon   (France)

^c Universite de Nantes   (France)

^d UNIVERSITÉ DE NANTES   (France)

^e ACADEMIC MEDICAL CENTER   (Netherlands)

^f Centre de Génétique   (France)

^g UNIVERSITÉ PARIS DESCARTES   (France)

^h L INSTITUT DU THORAX   (France)

ⁱ NANTES UNIVERSITY HOSPITAL   (France)

Author keywords

arrhythmia; Purkinje fibers; SCN5A; ventricular tachycardia

Indexed keywords

AMIODARONE; DIHYDROQUINIDINE; FLECAINIDE; PROPAFENONE; QUINIDINE;

ACTION POTENTIAL; ADOLESCENT; ADULT; ARTICLE; CARDIAC CHANNELOPATHY; CELL STRAIN COS7; CHILD; CLINICAL ARTICLE; COMPUTER MODEL; CONGESTIVE CARDIOMYOPATHY; FAMILY; FEMALE; GENE; GENE MUTATION; HAPLOTYPE; HEART ATRIUM ARRHYTHMIA; HEART CONTRACTION; HEART ELECTROPHYSIOLOGY; HEART LEFT BUNDLE BRANCH BLOCK; HUMAN; IN VITRO STUDY; MALE; MULTIFOCAL ECTOPIC PURKINJE RELATED PREMATURE CONTRACTION; NUCLEOTIDE SEQUENCE; PATCH CLAMP; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PURKINJE CELL; REPOLARIZATION; SCHOOL CHILD; SCN5A GENE; SUDDEN DEATH;

ADOLESCENT; ADULT; ANTI-ARRHYTHMIA AGENTS; ARRHYTHMIAS, CARDIAC; CARDIOMYOPATHY, DILATED; CHILD; DEATH, SUDDEN, CARDIAC; DNA MUTATIONAL ANALYSIS; ELECTROPHYSIOLOGIC TECHNIQUES, CARDIAC; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; MUTATION; MYOCARDIAL CONTRACTION; PATCH-CLAMP TECHNIQUES; PEDIGREE; PHENOTYPE; PURKINJE FIBERS; QUINIDINE; SODIUM CHANNELS; SYNDROME; VENTRICULAR PREMATURE COMPLEXES; YOUNG ADULT;

EID: 84863491451     PISSN: 07351097     EISSN: 15583597     Source Type: Journal    
DOI: 10.1016/j.jacc.2012.02.052     Document Type: Article

References (45)

1. E.S. Kaufman Mechanisms and clinical management of inherited channelopathies: long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, and short QT syndrome Heart Rhythm 6 2009 S51 S55
2. P.J. Mohler, J.J. Schott, A.O. Gramolini Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death Nature 421 2003 634 639
3. H. Watanabe, T.T. Koopmann, S. Le Scouarnec Sodium channel beta1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans J Clin Invest 118 2008 2260 2268
4. P.L. Hedley, P. Jorgensen, S. Schlamowitz The genetic basis of long QT and short QT syndromes: a mutation update Hum Mutat 30 2009 1486 1511
5. T. Zimmer, R. Surber SCN5A channelopathies - an update on mutations and mechanisms Prog Biophys Mol Biol 98 2008 120 136
6. J. Tfelt-Hansen, B.G. Winkel, M. Grunnet, T. Jespersen Inherited cardiac diseases caused by mutations in the Nav1.5 sodium channel J Cardiovasc Electrophysiol 21 2010 107 115
7. M.B. Rook, A.C. Bezzina, W.A. Groenewegen Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome Cardiovasc Res 44 1999 507 517
8. J.J. Schott, C. Alshinawi, F. Kyndt Cardiac conduction defects associate with mutations in SCN5A Nat Genet 23 1999 20 21
9. V. Probst, F. Kyndt, F. Potet Haploinsufficiency in combination with aging causes SCN5A-linked hereditary Lenegre disease J Am Coll Cardiol 41 2003 643 652
10. T.M. Olson, V.V. Michels, J.D. Ballew Sodium channel mutations and susceptibility to heart failure and atrial fibrillation JAMA 293 2005 447 454
11. W.P. McNair, L. Ku, M.R. Taylor SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia Circulation 110 2004 2163 2167
12. T.P. Nguyen, D.W. Wang, T.H. Rhodes, A.L. George Jr Divergent biophysical defects caused by mutant sodium channels in dilated cardiomyopathy with arrhythmia Circ Res 102 2008 364 371
13. W.P. McNair, G. Sinagra, M.R. Taylor SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism J Am Coll Cardiol 57 2011 2160 2168
14. C.A. Remme, A.A. Wilde, C.R. Bezzina Cardiac sodium channel overlap syndromes: different faces of SCN5A mutations Trends Cardiovasc Med 18 2008 78 87
15. C.M. Wolf, L. Wang, R. Alcalai Lamin A/C haploinsufficiency causes dilated cardiomyopathy and apoptosis-triggered cardiac conduction system disease J Mol Cell Cardiol 44 2008 293 303
16. M. Bienengraeber, T.M. Olson, V.A. Selivanov ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating Nat Genet 36 2004 382 387
17. E. Genin, A. Tullio-Pelet, F. Begeot, S. Lyonnet, L. Abel Estimating the age of rare disease mutations: the example of Triple-A syndrome J Med Genet 41 2004 445 449
18. M. Allouis, F. Le Bouffant, R. Wilders 14-3-3 is a regulator of the cardiac voltage-gated sodium channel Nav1.5 Circ Res 98 2006 1538 1546
19. D. DiFrancesco, D. Noble A model of cardiac electrical activity incorporating ionic pumps and concentration changes Philos Trans R Soc Lond B Biol Sci 307 1985 353 398
20. V. Iyer, R. Mazhari, R.L. Winslow A computational model of the human left-ventricular epicardial myocyte Biophys J 87 2004 1507 1525
21. J. Keener, J. Sneyd Mathematical Physiology 2nd edition 2001 Springer New York, NY
22. O.V. Aslanidi, P. Stewart, M.R. Boyett, H. Zhang Optimal velocity and safety of discontinuous conduction through the heterogeneous Purkinje-ventricular junction Biophys J 97 2009 20 39
23. C. Kampmann, C.M. Wiethoff, A. Wenzel Normal values of M mode echocardiographic measurements of more than 2000 healthy infants and children in central Europe Heart 83 2000 667 672
24. A. Nogami, S. Naito, H. Tada Demonstration of diastolic and presystolic Purkinje potentials as critical potentials in a macroreentry circuit of verapamil-sensitive idiopathic left ventricular tachycardia J Am Coll Cardiol 36 2000 811 823
25. C. Reithmann, A. Hahnefeld, M. Ulbrich, T. Matis, G. Steinbeck Different forms of ventricular tachycardia involving the left anterior fascicle in nonischemic cardiomyopathy: critical sites of the reentrant circuit in low-voltage areas J Cardiovasc Electrophysiol 20 2009 841 849
26. H. Tanner, G. Hindricks, M. Volkmer Catheter ablation of recurrent scar-related ventricular tachycardia using electroanatomical mapping and irrigated ablation technology: results of the prospective multicenter Euro-VT-study J Cardiovasc Electrophysiol 21 2010 47 53
27. Y. Imaizumi, W.R. Giles Quinidine-induced inhibition of transient outward current in cardiac muscle Am J Physiol 253 1987 H704 H708
28. Z. Wang, B. Fermini, S. Nattel Effects of flecainide, quinidine, and 4-aminopyridine on transient outward and ultrarapid delayed rectifier currents in human atrial myocytes J Pharmacol Exp Ther 272 1995 184 196
29. D.M. Roden, P.B. Bennett, D.J. Snyders, J.R. Balser, L.M. Hondeghem Quinidine delays IK activation in guinea pig ventricular myocytes Circ Res 62 1988 1055 1058
30. J.A. Sanchez-Chapula, T. Ferrer, R.A. Navarro-Polanco, M.C. Sanguinetti Voltage-dependent profile of human ether-a-go-go-related gene channel block is influenced by a single residue in the S6 transmembrane domain Mol Pharmacol 63 2003 1051 1058
31. J.J. Salata, J.A. Wasserstrom Effects of quinidine on action potentials and ionic currents in isolated canine ventricular myocytes Circ Res 62 1988 324 337
32. N. Iost, L. Virag, A. Varro, J.G. Papp Comparison of the effect of class IA antiarrhythmic drugs on transmembrane potassium currents in rabbit ventricular myocytes J Cardiovasc Pharmacol Ther 8 2003 31 41
33. L. Wu, D. Guo, H. Li Role of late sodium current in modulating the proarrhythmic and antiarrhythmic effects of quinidine Heart Rhythm 5 2008 1726 1734
34. G. Lopera, W.G. Stevenson, K. Soejima Identification and ablation of three types of ventricular tachycardia involving the His-Purkinje system in patients with heart disease J Cardiovasc Electrophysiol 15 2004 52 58
35. L.M. Rodriguez, J.L. Smeets, C. Timmermans, H.J. Trappe, H.J. Wellens Radiofrequency catheter ablation of idiopathic ventricular tachycardia originating in the anterior fascicle of the left bundle branch J Cardiovasc Electrophysiol 7 1996 1211 1216
36. H. Doppalapudi, T. Yamada, H.T. McElderry, V.J. Plumb, A.E. Epstein, G.N. Kay Ventricular tachycardia originating from the posterior papillary muscle in the left ventricle: a distinct clinical syndrome Circ Arrhythm Electrophysiol 1 2008 23 29
37. J.D. Kapplinger, D.J. Tester, M. Alders An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing Heart Rhythm 7 2010 33 46
38. J.D. Kapplinger, D.J. Tester, B.A. Salisbury Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test Heart Rhythm 6 2009 1297 1303
39. N. Makita Phenotypic overlap of cardiac sodium channelopathies: individual-specific or mutation-specific? Circ J 73 2009 810 817
40. J. Cheng, A. Morales, J.D. Siegfried SCN5A rare variants in familial dilated cardiomyopathy decrease peak sodium current depending on the common polymorphism H558R and common splice variant Q1077del Clin Transl Sci 3 2010 287 294
41. R.E. Hershberger, S.B. Parks, J.D. Kushner Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy Clin Transl Sci 1 2008 21 26
42. A. Morales, T. Painter, R. Li Rare variant mutations in pregnancy-associated or peripartum cardiomyopathy Circulation 121 2010 2176 2182
43. D.M. Roden Human genomics and its impact on arrhythmias Trends Cardiovasc Med 14 2004 112 116
44. D.J. Snyders, L.M. Hondeghem Effects of quinidine on the sodium current of guinea pig ventricular myocytes Evidence for a drug-associated rested state with altered kinetics Circ Res 66 1990 565 579
45. T. Yang, D.M. Roden Extracellular potassium modulation of drug block of IKr Implications for torsade de pointes and reverse use-dependence Circulation 93 1996 407 411