R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy

Journal of the American College of Cardiology

Volumn 60, Issue 16, 2012, Pages 1566-1573

  Mann, Stefan A ^a   Castro, Maria L ^a   Ohanian, Monique ^a   Guo, Guanglan ^a   Zodgekar, Poonam ^a   Sheu, Angela ^a   Stockhammer, Kathryn ^a   Thompson, Tina ^b   Playford, David ^c   Subbiah, Rajesh ^d,e   Kuchar, Dennis ^d   Aggarwal, Anu ^b   Vandenberg, Jamie I ^a,e   Fatkin, Diane ^a,d,e  

^a VICTOR CHANG CARDIAC RESEARCH INSTITUTE   (Australia)

^b ROYAL MELBOURNE HOSPITAL   (Australia)

^c Galliers Private Hospital   (Australia)

^d ST VINCENT S HOSPITAL   (Australia)

^e UNIVERSITY OF NEW SOUTH WALES   (Australia)

Author keywords

familial dilated cardiomyopathy; SCN5A mutations; ventricular ectopy

Indexed keywords

AMIODARONE; ARGININE; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; FLECAINIDE; GLUTAMINE; ISOPRENALINE; LAMIN A; METOPROLOL; SODIUM; SODIUM CHANNEL BLOCKING AGENT; SODIUM CHANNEL NAV1.5;

ACTION POTENTIAL; ADULT; AGED; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; CHANNEL GATING; CLINICAL ARTICLE; CLINICAL EVALUATION; CONGESTIVE CARDIOMYOPATHY; DENSITY; DISEASE ASSOCIATION; FEMALE; GENE; GENE MUTATION; GENETIC VARIABILITY; HEART ELECTROPHYSIOLOGY; HEART VENTRICLE EXTRASYSTOLE; HUMAN; HUMAN CELL; LMNA GENE; MALE; MATHEMATICAL MODEL; MISSENSE MUTATION; NONHUMAN; PATCH CLAMP; PRIORITY JOURNAL; PURKINJE FIBER; SCN5A GENE; SODIUM CURRENT; STEADY STATE; WILD TYPE;

ADULT; AGED, 80 AND OVER; ANIMALS; CARDIOMYOPATHY, DILATED; CHO CELLS; CRICETINAE; FEMALE; HUMANS; LAMIN TYPE A; MALE; MIDDLE AGED; MUTATION, MISSENSE; NAV1.5 VOLTAGE-GATED SODIUM CHANNEL; PHENOTYPE; PURKINJE FIBERS; VENTRICULAR PREMATURE COMPLEXES; YOUNG ADULT;

EID: 84867399876     PISSN: 07351097     EISSN: 15583597     Source Type: Journal    
DOI: 10.1016/j.jacc.2012.05.050     Document Type: Article

References (35)

1. D. Fatkin, R. Otway, Z. Richmond Genetics of dilated cardiomyopathy Heart Fail Clin 6 2010 129 140
2. M.J. Ackerman, S.G. Priori, S. Willems HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies Europace 13 2011 1077 1109
3. W.P. McNair, L. Ku, M.R. Taylor SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia Circulation 110 2004 2163 2167
4. 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
5. D. Fatkin, C.A. MacRae, T. Sasaki Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy N Engl J Med 341 1999 1715 1724
6. P. Stewart, O.V. Aslanidi, D. Noble, P.J. Noble, M.R. Boyett, H. Zhang Mathematical models of the electrical action potential of Purkinje fibre cells Philos Transact A Math Phys Eng Sci 367 2009 2225 2255
7. K.H. ten Tusscher, D. Noble, P.J. Noble, A.V. Panfilov A model for human ventricular tissue Am J Physiol Heart Circ Physiol 286 2004 H1573 H1589
8. 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
9. 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
10. K. Nair, R. Pekhletski, E. Szabo Escape capture bigeminy: phenotypic marker of cardiac sodium channel voltage sensor mutation R222Q Heart Rhythm 2012 Jun 16 [E-pub ahead of print]; http://dx.doi.org/10.1016/j.hrthm.2012.06.029
11. G. Laurent, S. Saal, M.Y. Amarouch Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy J Am Coll Cardiol 60 2012 144 156
12. 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 Trans Sci 3 2010 287 294
13. f in adult canine cardiac ventricular myocytes J Physiol 485 1995 469 483
14. I. Kodama, K. Kamiya, J. Toyama Cellular electrophysiology of amiodarone Cardiovasc Res 35 1997 13 29
15. J.P. Smits, M.T. Blom, A.A. Wilde, H.L. Tan Cardiac sodium channels and inherited electrophysiologic disorders: a pharmacogenetic overview Expert Opin Pharmacother 9 2008 537 549
16. R.G. Hiss, L.E. Lamb Electrocardiographic findings in 122,043 individuals Circulation 25 1962 947 961
17. H.L. Kennedy, J.A. Whitlock, M.K. Sprague, L.J. Kennedy, T.A. Buckingham, R.J. Goldberg Long-term follow-up of asymptomatic healthy subjects with frequent and complex ventricular ectopy N Engl J Med 312 1985 193 197
18. M. Bikkina, M.G. Larson, D. Levy Prognostic implications of asymptomatic ventricular arrhythmias: the Framingham Heart Study Ann Intern Med 117 1992 990 996
19. D.F. Duffee, W.K. Shen, H.C. Smith Suppression of frequent premature ventricular contractions and improvement of left ventricular function in patients with presumed idiopathic dilated cardiomyopathy Mayo Clin Proc 73 1998 430 433
20. T.S. Baman, D.C. Lange, K.J. Ilg Relationship between burden of premature ventricular complexes and left ventricular function Heart Rhythm 7 2010 865 869
21. M.L. Smith, M.H. Hamdan, S.L. Wasmund, C.F. Kneip, J.A. Joglar, R.L. Page High-frequency ventricular ectopy can increase sympathetic neural activity in humans Heart Rhythm 7 2010 497 503
22. H. Morita, S. Nagase, D. Miura Differential effects of cardiac sodium channel mutations on initiation of ventricular arrhythmias in patients with Brugada syndrome Heart Rhythm 6 2009 487 492
23. A. Nogami Purkinje-related arrhythmias Part I: Monomorphic ventricular tachycardias Pacing Clin Electrophysiol 34 2011 626 650
24. J. Ge, A. Sun, V. Paajanen Molecular and clinical characterization of a novel SCN5A mutation associated with atrioventricular block and dilated cardiomyopathy Circ Arrhythm Electrophysiol 1 2008 83 92
25. C.R. Bezzina, C.A. Remme Dilated cardiomyopathy due to sodium channel dysfunction: what is the connection? Circ Arrhythm Electrophysiol 1 2008 80 82
26. 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
27. L.J. Shang, A.E. Pfahnl, S. Sanyal Human heart failure is associated with abnormal C-terminal splicing variants in the cardiac sodium channel Circ Res 101 2007 1146 1154
28. M. Hesse, C.S. Kondo, R.B. Clark Dilated cardiomyopathy is associated with reduced expression of the cardiac sodium channel Scn5a Cardiovasc Res 75 2007 498 509
29. T.A. van Veen, M. Stein, A. Royer Impaired impulse propagation in Scn5a-knockout mice: combined contribution of excitability, connexin expression, and tissue architecture in relation to aging Circulation 112 2005 1927 1935
30. N. Gaborit, A. Varro, S. Le Bouter Gender-related differences in ion-channel and transporter subunit expression in non-diseased human hearts J Mol Cell Cardiol 49 2010 639 646
31. A.J. Moss Gender differences in ECG parameters and their clinical implications Ann Noninvasive Electrocardiol 15 2010 1 2
32. D. Migdalovich, A.J. Moss, C.M. Lopes Mutation and gender specific risk in type-2 long QT syndrome: implications for risk stratification for life-threatening cardiac events in patients with long QT syndrome Heart Rhythm 8 2011 1537 1543
33. R. Shi, Y. Zhang, C. Yang The cardiac sodium channel mutation delQKP1507-1509 is associated with the expanding phenotypic spectrum of LQT3, conduction disorder, dilated cardiomyopathy, and high incidence of youth sudden death Europace 10 2008 1329 1335
34. R. Hershberger, J. Lindenfeld, L. Mestroni, C.E. Seidman, M.R.G. Taylor, J.A. Towbin Genetic evaluation of cardiomyopathy-A Heart Failure Society of America practice guideline J Cardiac Fail 15 2009 83 97
35. D.P. Zipes, A.J. Camm, M. Borggrefe ACC/AHA/ESC 2006 guidelines for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: a report of the American College of Cardiology/American Heart Association Task Force and the European Society of Cardiology Committee for Practice Guidelines J Am Coll Cardiol 48 2006 e247 e346