Sudden death by stress: How far under the nerves should we dig to find out why LQT1 patients die?

Journal of the American College of Cardiology

Volumn 63, Issue 8, 2014, Pages 828-830

  Schwartz, Peter J ^a,b,c,d,e   Volders, Paul G A ^f  

^a ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^b UNIVERSITY OF PAVIA   (Italy)

^c UNIVERSITY OF CAPE TOWN   (South Africa)

^d STELLENBOSCH UNIVERSITY   (South Africa)

^e KING SAUD UNIVERSITY   (Saudi Arabia)

^f MAASTRICHT UNIVERSITY   (Netherlands)

Author keywords

heterologous expression; KCNQ1 mutation; long QT syndrome; protein kinase A stimulation

Indexed keywords

EMOTION; EXERCISE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HEART VENTRICLE TACHYCARDIA; HUMAN; LONG QT SYNDROME 1; LONG QT SYNDROME 2; LONG QT SYNDROME 3; NOTE; PHOSPHORYLATION; PRIORITY JOURNAL; QT INTERVAL; REGULATORY MECHANISM; REST; STRESS; SUDDEN DEATH; SYMPATHETIC TONE; ADRENERGIC SYSTEM; ARRHYTHMOGENESIS; EMOTIONAL STRESS; HEART MUSCLE; HEART REPOLARIZATION; JERVELL AND LANGE-NIELSEN SYNDROME; LONG QT SYNDROME; MISSENSE MUTATION; PHYSICAL STRESS; PROTEIN PHOSPHORYLATION; ROMANO-WARD SYNDROME;

BETA ADRENERGIC RECEPTOR BLOCKING AGENT;

HETEROLOGOUS EXPRESSION; KCNQ1 MUTATION; LONG QT SYNDROME; PROTEIN KINASE A STIMULATION;

ADRENERGIC BETA-AGONISTS; ANIMALS; FEMALE; HUMANS; KCNQ1 POTASSIUM CHANNEL; LONG QT SYNDROME; MALE; MUTATION;

EID: 84896700083     PISSN: 07351097     EISSN: 15583597     Source Type: Journal    
DOI: 10.1016/j.jacc.2013.09.059     Document Type: Editorial

References (24)

1. A. Jervell, and F. Lange-Nielsen Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval, and sudden death Am Heart J 54 1957 59 68
2. P.J. Schwartz, C. Spazzolini, and L. Crotti et al. The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome Circulation 113 2006 783 790
3. P.J. Schwartz, L. Crotti, and R. Insolia Long QT syndrome: from genetics to management Circ Arrhythm Electrophysiol 5 2012 868 877
4. P.J. Schwartz, M. Periti, and A. Malliani The long Q-T syndrome Am Heart J 89 1975 378 390
5. P.J. Schwartz Idiopathic long QT syndrome: progress and questions Am Heart J 109 1985 399 411 (Pubitemid 16248481)
6. P.J. Schwartz, and M.J. Ackerman The long QT syndrome: a transatlantic clinical approach to diagnosis and therapy Eur Heart J 34 2013 3109 3116
7. Q. Wang, M.E. Curran, and I. Splawski et al. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias Nature Genetics 12 1996 17 23 (Pubitemid 26011314)
8. P.J. Schwartz, S.G. Priori, and C. Spazzolini et al. Genotype-phenotype correlation in the long QT syndrome: gene-specific triggers for life-threatening arrhythmias Circulation 103 2001 89 95 (Pubitemid 32050441)
9. P.A. Brink, L. Crotti, and V. Corfield et al. Phenotypic variability and unusual clinical severity of congenital long QT syndrome in a founder population Circulation 112 2005 2602 2610 (Pubitemid 41532596)
10. L. Crotti, C. Spazzolini, and P.J. Schwartz et al. The common long QT syndrome mutation KCNQ1/A341V causes unusually severe clinical manifestations in patients with different ethnic backgrounds: toward a mutation-specific risk stratification Circulation 116 2007 2366 2375 (Pubitemid 350145071)
11. J. Heijman, R.L. Spätjens, and S.R. Seyen et al. Dominant-negative control of cAMP-dependent IKs upregulation in human long-QT syndrome type 1 Circ Res 110 2012 211 219
12. S.O. Marx, J. Kurokawa, and S. Reiken et al. Requirement of a macromolecular signaling complex for beta adrenergic receptor modulation of the KCNQ1-KCNE1 potassium channel Science 295 2002 496 499 (Pubitemid 34101639)
13. J. Kurokawa, H.K. Motoike, J. Rao, and R.S. Kass Regulatory actions of the A-kinase anchoring protein Yotiao on a heart potassium channel downstream of PKA phosphorylation Proc Natl Acad Sci U S A 101 2004 16374 16378 (Pubitemid 39552852)
14. L. Chen, M.L. Marquardt, D.J. Tester, K.J. Sampson, M.J. Ackerman, and R.S. Kass Mutation of an A-kinase-anchoring protein causes long-QT syndrome Proc Natl Acad Sci U S A 104 2007 20990 20995
15. J. Wu, N. Naiki, and W.-G. Ding et al. A molecular mechanism for adrenergic-induced long QT syndrome J Am Coll Cardiol 63 2014 819 827
16. P.J. Schwartz The long QT syndrome H.E. Kulbertus, H.J.J. Wellens, Sudden Death 1980 M Nijhoff The Hague, the Netherlands 358 378
17. R.W. Sy, C. Van der Werf, and I. Chatta et al. Derivation and validation of a simple exercise-based algorithm for prediction of genetic testing in relatives of LQTS probands Circulation 124 2011 2187 2194
18. L. Crotti, C. Spazzolini, and A.P. Porretta et al. Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome J Am Coll Cardiol 60 2012 2515 2524
19. H. Vyas, J. Hejlik, and M.J. Ackerman Epinephrine QT stress testing in the evaluation of congenital long-QT syndrome: diagnostic accuracy of the paradoxical QT response Circulation 113 2006 1385 1392 (Pubitemid 43739434)
20. P.J. Schwartz, E. Vanoli, and L. Crotti et al. Neural control of heart rate is an arrhythmia risk modifier in long QT syndrome J Am Coll Cardiol 51 2008 920 929 (Pubitemid 351282460)
21. S. Viskin, P.G. Postema, and Z.A. Bhuiyan et al. The response of the QT interval to the brief tachycardia provoked by standing: a bedside test for diagnosing long QT syndrome J Am Coll Cardiol 55 2010 1955 1961
22. A. Barsheshet, I. Goldenberg, and J. O-Uchi et al. Mutations in cytoplasmic loops of the KCNQ1 channel and the risk of life-threatening events: implications for mutation-specific response to ß-blocker therapy in type 1 long-QT syndrome Circulation 125 2012 1988 1996
23. R. Hoefen, M. Reumann, and I. Goldenberg et al. In silico cardiac risk assessment in patients with long QT syndrome: type 1: clinical predictability of cardiac models J Am Coll Cardiol 60 2012 2182 2191
24. M. Gnecchi, and P.J. Schwartz The unstoppable attraction for induced pluripotent stem cells: are they the magic bullet for modeling inherited arrhythmogenic diseases? J Am Coll Cardiol 60 2012 1001 1004