Abstract
Over the past decade, the congenital long QT syndrome (LQTS) has contributed significantly to our understanding of ventricular arrhythmias. Congenital LQTS is an inherited disease characterized by prolonged ventricular repolarization and a propensity for life-threatening ventricular tachyarrhythmias resulting in syncope and sudden death [1]. Two forms of inherited long QT syndrome are known: (1) the more common Romano-Ward syndrome (RWS), with an autosomal dominant inheritance, and (2) the Jervell and Lange-Nielssen syndrome (JLN), which is usually autosomal recessive long QT syndrome associated with inherited sensorineuronal deafness. Long QT syndrome, occurring secondary to heart failure, hypertrophy or drug-therapy, is called acquired LQTS [2].
Keywords
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
This is a preview of subscription content, log in via an institution.
Buying options
Tax calculation will be finalised at checkout
Purchases are for personal use only
Learn about institutional subscriptionsPreview
Unable to display preview. Download preview PDF.
References
Schwartz P.I. Idiopathic long QT syndrome: progress and questions. Am Heart J. 1985; 109:399–411.
Roden DM. Mechanisms and management of proarrhythmia. Am I Cardiol. 1998; 82:49–57I.
Wang Q, Shen I, Splawski I, et al. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell. 1995; 80:805–11.
Kass R.S. Genetically induced reduction in small currents has major impact. Circulation.1997; 96:1720–21.
Splawski I, Shen J, Timothy K.W, et al. Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000; 102:1178–85.
Schulze-Bahr E, Wang Q, Wedekind H, et al. KCNEI mutations cause Jervell and Lange-Nielsen syndrome. Nat Genet. 1997; 17:267–68.
Priori S.G, Schwartz P.I, Napolitano C, et al. A recessive variant of the Romano-Ward longQT syndrome? Circulation. 1998; 97:2420–25.
Geelen J.L, Doevendans P.A, Iongbloed R.I, et al. Molecular genetics of inherited long QT syndromes. Eur Heart J.1998; 19:1427–33.
Kass R.S, Davies M.P. The roles ofion channels in an inherited heart disease: molecular genetics of the long QT syndrome. Cardiovasc Res. 1996; 32:443–54.
Sanguinetti M.C, Iurkiewicz N.K. Lanthanum blocks a specific component of IK and screens membrane surface change in cardiac cells. Am I Physiol. 1990; 259:H1881–89.
Sanguinetti M.C, Iurkiewicz N.K. Delayed rectifier outward K+ current is composed of two currents in guinea pig atrial cells. Am I Physiol. 1991; 260:H393–99.
Bennett P.B, Yazawa K, Makita N, et al. Molecular mechanism for an inherited cardiac arrhythmia. Nature. 1995; 376:683–85.
Clancy C.E, Rudy Y. Linking a genetic defect to its cellular phenotype in a cardiac arrhythmia. Nature. 1999; 400:566–69.
Sanguinetti M.C, Curran M.E, Spector P.S, et al. Spectrum of HERG K+-channe1 dysfunction in an inherited cardiac arrhythmia. Proc Natl Acad Sci USA. 1996; 93:2208–12.
Sesti F, Abbott G.W, Wei I, et al. A common po1ymorphism associated with antibioticinduced cardiac arrhythmia. Proc Natl Acad Sci USA. 2000; 97:10613–18.
Zareba W, Moss A.I, Schwartz P.I, et al. Influence of genotype on the clinical course of the long-QT syndrome. InternationaI′Long-QT Syndrome Registry Research Group. N Engl I Med. 1998; 339:960–65.
Schwartz P.I, Priori S.G, Spazzolini C, et al. Genotype-phenotype correlation in the longQT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation. 2001; 103:89–95.
Wilde A.A, Iongbloed R.I, Doevendans P.A, et al. Auditory stimuli as a trigger for arrhythmic events differentiate HERG-related (LQTS2) patients from KVLQT1-related patients (LQTS1). I Am′Coll Cardiol. 1999; 33:327–32.
Moss A.I, Robinson I.L, Gessman L, et al. Comparison of clinical and genetic variables of cardiac events associated with loud noise versus swimming among subjects with the long QT syndrome. Am I Cardiol. 1999; 84:876–79.
Schwartz P.I, Periti M, Malliani A. The long Q-T syndrome. Am Heart J. 1975; 89:378–90.
Moss A.I, Schwartz P.I, Crampton RS, et al. The long QT syndrome: a prospective international study. Circulation. 1985; 71:17–21.
Moss A.I, Zareba W, Hall W.I, et al. Effectiveness and limitations of beta-blocker therapy in congenitallong-QT syndrome. Circulation. 2000; 101:616–23.
Compton S.I, Lux R.L, Ramsey M.R, et al. Genetically defined therapy of inherited long-QT syndrome. Correction of abnormal repolarization by potassium. Circulation. 1996; 94:1018–22.
Tan H.L, Alings M, Van Olden R.W, et al. Long-term (subacute) potassium treatment in congenital HERG-related long QT syndrome (LQTS2). J Cardiovasc Electrophysiol. 1999; 10:229–33.
Schwartz P.J, Priori S.G, Napolitano C, et al. Long QT syndrome patients with mutations of the SCN5A and HERG genes have differential responses to Na+ channel blockade and to increases in heart rate. Implications for gene-specific therapy. Circulation. 1995; 92:3381–86.
Benhorin J, Taub R, Goldsmit M, et al. Effects of flecainide in patients with new SCN5A mutation: mutation-specific therapy for long-QT syndrome? Circulation. 2000; 101:1698–706.
Priori S.G, Napolitano C, Schwartz P.J, et al. The clusive link between LQT3 and Brugada syndrome: the role of flecainide challenge. Circulation. 2000; 102:945–947.
Cowan J.C, et al. Importance of lead selection in QT interval measurement. Am J Cardiol.1988; 61:83–87.
Vincent G.M, Timothy K.W, Leppert M, et al. The spectrum ofsymptoms and QT intervals in carriers of the gene for the long-QT syndrome. N Engl J Med. 1992; 327:846–52.
Sylven J.C, Horacek B.M, Spencer C.A, et al. QT interval variability on the body surface.J Electrocardiol. 1984; 17:179–88.
Linker N.J, Colonna P, Kelwick C.A, et al. Assessment of QT dispersion in symptomatic patients with congenitallong QT syndromes. Am J Cardiol. 1992; 69:634–38.
Malfatto G, Beria G, Sala S, et al. Quantitative analysis of T wave abnormalities and their prognostic implications in the idiopathic long QT syndrome. J Am Coll Cardiol. 1994; 23:296–301.
Schwartz P.J, Malliani A. Electrical alternation of the T-wave: clinical and experimental evidence of its relationship with the sympathetic nervous system and with the long Q-T syndrome. Am Heart J. 1975; 89:45–50.
Moss A.J, Schwartz P.J, Crampton R.S, et al. The long QT syndrome. Prospective longitudinal study of 328 families. Circulation. 1991; 84:1136–44.
Swan H, Viitasalo M, Piippo K, et al. Sinus node function and ventricular repolarization during exercise stress test in long QT syndrome patients with K vLQT1 and HERG potassium channel defects. J Am Coll Cardiol. 1999; 34:823–29.
Moss A.J, Zareba W, Benhorin J, et al. ECG T-wave patterns in genetically distinct forms of the hereditary long QT syndrome. Circulation. 1995; 92:2929–34.
Zhang L, Timothy K.W, Vincent G.M, et al. Spectrum of ST-T-wave patterns and repolarization parameters in congenital long-QT syndrome: ECG findings identify genotypes. Circulation. 2000; 102:2849–55.
Schwartz P.J. The long QT syndrome. Armonk,NY: Futura Publishing Company,Inc.; 1997.
Priori S.G, Napolitano C, Schwartz PJ.Low penetrance in the long-QT syndrome: clinical impact. Circulation. 1999; 99:529–33.
Napolitano C, Schwartz P.J, Brown A.M, et al. Evidence for a cardiac ion channel mutation underlying drug-induced QT prolongation and life-threatening arrhythmias. J Cardiovasc Electrophysiol. 2000; 11:691–96.
Roden D.M. Acquired long QT syndromes and the risk of proarrhythmia. J Cardiovasc Electrophysiol. 2000; 11:938–40.
Abbott G.W, Sesti F, Splawski I, et al. MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. Cell. 1999; 97:175–87.
Wei J, Abbott G.W, Sesti F, et al. Prevalence of KCNE2 (MiRPI) mutations in acquired long QT syndrome [Abstract]. Circulation. 1999; 100:1495.
Wei J, Yang I.C.H, Tapper A.R, et al. KCNEI polymorphism confers risk of drug-induced long QT syndrome by altering kinetic properties to Iks potassium channels [Abstract]. Circulation. 1999; 100:1495.
Roden D.M, Lazzara R, Rosen M, et al. Multiple mechanisms in the long-QT syndrome. Current knowledge, gaps, and future directions. The SADS Foundation Task Force on LQTS. Circulation. 1996; 94:1996–2012.
Abriel H, Wehrens X.H.T, Benhorin J, et al. Molecular pharmacology of the sodium channel mutation DI790G linked to the long-QT syndrome. Circulation. 2000; 102:921–25.
Zhou Z, Gong Q, January C.T. Correction of defective protein trafficking of a mutant HERG potassium channel in human long QT syndrome. Pharmacological and temperature effects. J Biol Chem. 1999; 274:31123–26.
Wilde A.A, Roden D.M. Predicting the long-QT genotype from clinical data: from sense to science. Circulation. 2000; 102:2796–98.
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2001 Springer Science+Business Media Dordrecht
About this chapter
Cite this chapter
Wehrens, X.H.T., Vos, M.A., Wilde, A.A. (2001). Diagnosis and Treatment of the Congenital Long Qt Syndrome. In: Doevendans, P.A., Wilde, A.A.M. (eds) Cardiovascular Genetics for Clinicians. Developments in Cardiovascular Medicine, vol 239. Springer, Dordrecht. https://doi.org/10.1007/978-94-010-1019-1_15
Download citation
DOI: https://doi.org/10.1007/978-94-010-1019-1_15
Publisher Name: Springer, Dordrecht
Print ISBN: 978-94-010-3888-1
Online ISBN: 978-94-010-1019-1
eBook Packages: Springer Book Archive