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Artículos y revisiones de interés en canalopatías

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Artículos y revisiones de interés

Canales Iónicos Cardiacos

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Síndrome de QT Largo

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Síndrome de Brugada

  • Andorin A, Gourraud JB, Mansourati J, Fouchard S, le Marec H, Maury P, Mabo P, Hermida JS, Deharo JC, Delasalle B, Esnault S, Sadoul N, Davy JM, Leenhardt A, Klug D, Defaye P, Babuty D, Sacher F, Probst V. The QUIDAM study: Hydroquinidine therapy for the management of Brugada syndrome patients at high arrhythmic risk.  Heart Rhythm. 2017 Aug;14(8):1147-1154. doi: 10.1016/j.hrthm.2017.04.019. Epub 2017 Apr 12.

  • Sieira J, Conte G, Ciconte G, Chierchia GB, Casado-Arroyo R, Baltogiannis G, Di Giovanni G, Saitoh Y, Juliá J, Mugnai G, La Meir M, Wellens F, Czapla J, Pappaert G, de Asmundis C, Brugada P. A score model to predict risk of events in patients with Brugada Syndrome. Eur Heart J. 2017 Jun 7;38(22):1756-1763. doi: 10.1093/eurheartj/ehx119.

  • Bastiaenen R, Cox AT, Castelletti S, Wijeyeratne YD, Colbeck N, Pakroo N, Ahmed H, Bunce N, Anderson L, Moon JC, Prasad S, Sharma S, Behr ER. Late gadolinium enhancement in Brugada syndrome: A marker for subtle underlying cardiomyopathy? Heart Rhythm. 2017 Apr;14(4):583-589. doi: 10.1016/j.hrthm.2016.12.004. Epub 2016 Dec 3.

  • Kinoshita K, Takahashi H, Hata Y, Nishide K, Kato M, Fujita H, Yoshida S, Murai K, Mizumaki K, Nishida K, Yamaguchi Y, Kano M, Tabata T, Nishida N. SCN5A(K817E), a novel Brugada syndrome-associated mutation that alters the activation gating of NaV1.5 channel. Heart Rhythm. 2016 May;13(5):1113-20. doi: 10.1016/j.hrthm.2016.01.008. Epub 2016 Jan 8.

  • Konigstein M, Rosso R, Topaz G, Postema PG, Friedensohn L, Heller K, Zeltser D, Belhassen B, Adler A, Viskin S. Drug-induced Brugada syndrome: Clinical characteristics and risk factors. Heart Rhythm. 2016 May;13(5):1083-7. doi: 10.1016/j.hrthm.2016.03.016.

  • Andorin A, Behr ER, Denjoy I, Crotti L, Dagradi F, Jesel L, Sacher F, Petit B, Mabo P, Maltret A, Wong LC, Degand B, Bertaux G, Maury P, Dulac Y, Delasalle B, Gourraud JB, Babuty D, Blom NA, Schwartz PJ, Wilde AA, Probst V. Impact of clinical and genetic findings on the management of young patients with Brugada syndrome. Heart Rhythm. 2016 Jun;13(6):1274-82. doi: 10.1016/j.hrthm.2016.02.013.

  • Adler A, Rosso R, Chorin E, Havakuk O, Antzelevitch C, Viskin S. Risk stratification in Brugada syndrome: Clinical characteristics, electrocardiographic parameters, and auxiliary testing. Heart Rhythm. 2016 Jan;13(1):299-310. doi: 10.1016/j.hrthm.2015.08.038

  • Havakuk O, Viskin S. A Tale of 2 Diseases: The History of Long-QT Syndrome and Brugada Syndrome. J Am Coll Cardiol. 2016 Jan 5;67(1):100-8. doi: 10.1016/j.jacc.2015.10.020.

  • Behr ER, Savio-Galimberti E, Barc J, Holst AG, Petropoulou E, Prins BP, Jabbari J, Torchio M, Berthet M, Mizusawa Y, Yang T, Nannenberg EA, Dagradi F, Weeke P, Bastiaenan R, Ackerman MJ, Haunso S, Leenhardt A, Kääb S, Probst V, Redon R, Sharma S, Wilde A, Tfelt-Hansen J, Schwartz P, Roden DM, Bezzina CR, Olesen M, Darbar D, Guicheney P, Crotti L; UK10K Consortium, Jamshidi Y. Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study. Cardiovasc Res. 2015 Jun 1;106(3):520-9. 10.1093/cvr/cvv042.

  • Conte G, Sieira J, Ciconte G, de Asmundis C, Chierchia GB, Baltogiannis G, Di Giovanni G, La Meir M, Wellens F, Czapla J, Wauters K, Levinstein M, Saitoh Y, Irfan G, Julià J, Pappaert G, Brugada P. Implantable cardioverter-defibrillator therapy in Brugada syndrome: a 20-year single-center experience. J Am Coll Cardiol. 2015 Mar 10;65(9):879-88.

  • Hu D, Barajas-Martínez H, Pfeiffer R, Dezi F, Pfeiffer J, Buch T, Betzenhauser MJ, Belardinelli L, Kahlig KM, Rajamani S, DeAntonio HJ, Myerburg RJ, Ito H, Deshmukh P, Marieb M, Nam GB, Bhatia A Hasdemir C, Haïssaguerre M, Veltmann C, Schimpf R, Borggrefe M, iskin S, Antzelevitch C. Mutations in SCN10A are responsible for a large fraction of cases of Brugada syndrome. J Am Coll Cardiol. 2014;64(1):66-79.

  • Ishikawa T, Takahashi N, Ohno S, Sakurada H, Nakamura K, On YK, Park JE, Makiyama T, Horie M, Arimura T, Makita N, Kimura A. Novel SCN3B mutation associated with brugada syndrome affects intracellular trafficking and function of Nav1.5. Circ J. 2013;77(4):959-67.

  • Berne P, Brugada J. Brugada syndrome 2012. Circ J 2012;76:1563-1571.

  • Mizasuwa Y, Wilde AA. Brugada syndrome. Circ Arrhythm Electrophysiol 2012;5:606-616.

  • Priori SG, Gasparini M, Napolitano C, et al. Risk stratification in Brugada syndrome: results of the PRELUDE (PRogrammed ELectrical stimUlation preDictive valuE) registry. J Am Coll Cardiol 2012;59:37-45.

  • Veerakul G, Nademanee K. Brugada syndrome: two decades of progress. Circ J 2012;76:2713-2722.

  • Wilde AA, Viskin S. EP testing does not predict cardiac events in Brugada syndrome. Heart Rhythm 2011; 8: 1598-1600.

  • Ackerman M, Priori S, Willems S, et al. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies. Heart Rhythm 2011; 8: 1308-1339.

  • Cerrone M, Priori S. Genetics of sudden death: focus on inherited channelopathies. Eur Heart J 2011; 32:2109-2120

  • Nademanee K, Veerakul G, Chandanamattha P, et al. Prevention of ventricular fibrillation episodes in Brugada syndrome by catheter ablation over the anterior right ventricular outflow tract epicardium. Circulation. 2011;123:1270-1279.

  • Ohno S, Zankov DP, Ding WG, et al. KCNE5 (KCNE1L) variants are novel modulators of Brugada syndrome and idiopathic ventricular fibrillation. Circ Arrhythm Electrophysiol. 2011;4:352-361.

  • Postema PG, van Dessel PF, Kors JA, Linnenbank AC, van Herpen G, Ritsema van Eck HJ, van Geloven N, de Bakker JM, Wilde AA, Tan HL. Local depolarization abnormalities are the dominant pathophysiologic mechanism for type 1 electrocardiogram in brugada syndrome a study of electrocardiograms, vectorcardiograms, and body surface potential maps during ajmaline provocation. J Am Coll Cardiol 2010;55:789-797.

  • Probst V, Veltmann C, Eckardt L, et al. Long-term prognosis of patients diagnosed with Brugada syndrome: results from the FINGER Brugada Syndrome Registry. Circulation 2010; 121:635-643.

  • Amin A, Asghari A, Tan HL. Cardiac sodium channelopathies. Pflugers arch 2010;460:223-237.

  • Burashnikov E, Pfeiffer R, Barajas-Martinez H, et al. Mutations in the cardiac L-type calcium channel associ­ated with inherited J-wave syndromes and sudden cardiac death. Heart Rhythm. 2010;7:1872-1882.

  • Meregalli PG, Tan HL, Probst V, et al. Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies. Heart Rhythm 2009;6:341-348.

  • Benito B, Sarkozy A, Mont L, Henkens S, Berruezo A, Tamborero D, et al. Gender differences in clinical manifestations of Brugada syndrome. J Am Coll Cardiol. 2008;52:1567-73

  • Brugada P, Brugada J. Right bundle branch block, persistent ST segment elevation and sudden cardiac death: a distinct clinical and electrocardiographic syndrome. A multicenter report. J Am Coll Cardiol. 1992;20:1391-1396.

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Síndrome de QT Corto

  • Mazzanti A, Maragna R, Vacanti G, Kostopoulou A, Marino M, Monteforte N, Bloise R, Underwood K, Tibollo V, Pagan E, Napolitano C, Bellazzi R, Bagnardi V, Priori SG. Hydroquinidine Prevents Life-Threatening Arrhythmic Events in Patients With Short QT Syndrome. J Am Coll Cardiol. 2017 Dec 19;70(24):3010-3015. doi: 10.1016/j.jacc.2017.10.025.

    Roussel J, Labarthe F, Thireau J, Ferro F, Farah C, Roy J, Horiuchi M, Tardieu M, Lefort B, François Benoist J, Lacampagne A, Richard S, Fauconnier J, Babuty D, Le Guennec JY. Carnitine deficiency induces a short QT syndrome. Heart Rhythm. 2016 Jan;13(1):165-74. doi: 10.1016/j.hrthm.2015.07.027.

  • Galluzzo A, Gallo C, Battaglia A, Frea S, Canavosio FG, Botta M, Bergerone S, Gaita F. Prolonged QT interval in ST-elevation myocardial infarction: predictors and prognostic value in medium-term follow-up. J Cardiovasc Med (Hagerstown). 2016 Jun;17(6):440-5. doi: 10.2459/JCM.0000000000000317.

  • Deo M, Ruan Y, Pandit SV, Shah K, Berenfeld O, Blaufox A, Cerrone M, Noujaim SF, Denegri M, Jalife J, Priori SG. KCNJ2 mutation in short QT syndrome 3 results in atrial fibrillation and ventricular proarrhythmia. Proc Natl Acad Sci USA, 2013;110:4291-6

  • Monteforte N, Napolitano C, Napolitano C, et al. Genetics and arrhythmias: diagnostic and prognostic applications. Rev Esp Cardiol 2012;65:278-285.

  • Gollob MH, Redpath CJ, Roberts JD. The short QT syndrome: proposed diagnostic criteria. J Am Coll Cardiol. 2011;57:802-812.

  • Patel C, Yan G-Z, Antzelevitch C. Short QT Syndrome: From bench to bedside. Circ Arrhythm Electrophysiol. 2010;3:401-408.

  • Bjerregaard P, Gussak I. Short QT syndrome: mechanisms, diagnosis and treatment. Nat Clin Pract Cardiovasc Med. 2005;2:84-87.

  • Bellocq C, van Ginneken AC, Bezzina CR, et al. Mutation in the KCNQ1 gene leading to the short QT-interval syndrome. Circulation. 2004;109:2394-7.

  • Brugada R, Hong K, Dumaine R, et al. Sudden death associated with short-QT syndrome linked to mutations in HERG. Circulation. 2004; 109: 30-35.

  • Chen YH, Xu SJ, Bendahhou S, et al. KCNQ1 gain-of-function mutation in familial atrial fibrillation. Science. 2003;299:251-254.

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Síndromes Asociados a Onda J

  • Antzelevitch C. Genetic, molecular and cellular mechanisms underlying the J wave syndromes.Circ J 2012;76:1054-1065.

  • Rosso R, Glikson E, Belhassen B, et al. Distinguishing"benign"from"malignant"early repolarization: The value of the ST-segment morphology. Heart Rhythm 2012; 9: 225-233.

  • Haruta D, Matsuo K, Tsuneto A, et al. Incidence and prognostic value of early repolarization pattern in the 12-lead electrocardiogram. Circulation. 2011;123:2931-2397.

  • Lellouche N, Sacher F, Jorrot P, et al. Sudden cardiac arrest: ECG repolarization after resuscitation. J Cardiovasc Electrophysiol. 2011;22:131-136.

  • Rosso R, Adler A, Halkin A, et al. Risk of sudden death among young individuals with J waves and early repolarization: Putting the evidence into perspective. Heart Rhythm 2011; 8: 923-929.

  • Tikkanen JT, Junttila MJ, Anttonen O, et al. Early repolarization: Electrocardiographic phenotypes associated with favorable long-term outcome. Circulation 2011; 123: 2666-2673.

  • Antzelevitch C, Yan GX. J wave syndromes. Heart Rhythm 2010; 7: 549-558.

  • Haissaguerre M, Chatel S, Sacher F, et al. Ventricular fibrillation with prominent early repolarization associated with a rare variant of KCNJ8/KATP channel. J Cardiovasc Electrophysiol 2009; 20: 93-98.

  • Haissaguerre M, Derval N, Sacher F, et al. Sudden cardiac arrest associated with early repolarization. N Engl J Med 2008; 358: 2016-2023.

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Fibrilación Auricular

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Síndromes de Repolarización Temprana

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Defecto progresivo de la conducción intracardiaca

  • Seki A, Ishikawa T, Daumy X, Mishima H, Barc J, Sasaki R, Nishii K, Saito K, Urano M, Ohno S, Otsuki S, Kimoto H, Baruteau AE, Thollet A, Fouchard S, Bonnaud S, Parent P, Shibata Y, Perrin JP, Le Marec H, Hagiwara N, Mercier S, Horie M, Probst V, Yoshiura KI, Redon R, Schott JJ, Makita N. Progressive Atrial Conduction Defects Associated With Bone Malformation Caused by a Connexin-45 Mutation. J Am Coll Cardiol. 2017 Jul 18;70(3):358-370. doi: 10.1016/j.jacc.2017.05.039.

  • Park DS, Fishman GI. The cardiac conduction system. Circulation 2011;123:904-915.

  • Amin A, Asghari A, Tan HL. Cardiac sodium channelopathies. Pflugers arch 2010;460:223-237.

  • Kruse M, Schulze-Bahr E, Corfield V, et al. Impaired endocytosis of the ion channel TRPM4 is associated with human progressive familial heart block type I. J Clin Invest. 2009;11:2737-44.

  • Watanabe H, Koopmann TT, Le Scouarnec S, et al. Sodium channel ß 1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. J Clin Invest 2008;118:2260 - 2268.

  • Smits JP, Veldkamp MW, Wilde AA. Mechanism of inherited cardiac conduction disease. Europace 2005;7:122-137.

  • Groenewegen WA, Firouzi M, et al. A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill. Circ Res 2003;92:14-22.

  • Wang DW, Viiswanathan PC, Balser JR, et al Clinical, genetic and biophysical characterization of SCN5A mutations associated with atrioventricular block. Circulation 2002;105:341-346.

  • Kyndt F, Probst V, Potet F, et al. Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family. Circulation 2001;104:3081 - 3086

  • Tan HL, Bink-Boelkens MT, Bezzina CR, et al. A sodium-channel mutation causes isolated cardiac conduction disease. Nature 2001;409:1043-1047.

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Síndrome del Nodo Enfermo Congénito

  • John RM, Kumar S. Sinus Node and Atrial Arrhythmias. Circulation. 2016 May 10;133(19):1892-900. doi: 10.1161/CIRCULATIONAHA.116.018011.

  • Lei M, Huang CL, Zhang Y. Genetic Na + channelopathies and sinus node dysfunction. Prog Biophys Mol Biol. 2008;98:171-178.

  • Milanesi R, Baruscotti M, Gnecchi-Rusconi T et al. Familial sinus bradycardia associated with a mutation in the cardiac pacemaker channel. N Engl J Med 2006;354:151-157.

  • Makiyama T, Akao M, Tsuji K, et al. High risk for bradyarrhythmic complications in patients with Brugada syndrome caused by SCN5A gene mutations. J Am Coll Cardiol 2005;46:2100-2106.

  • Benson DW, Wang DW, Dyment M, et al. Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). J Clin Invest. 2003;112:1019-1028

  • Groenewegen WA, Firouzi M, et al. A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill. Circ Res 2003;92:14-22.

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Síndromes Solapados

  • Benito B, Brugada R, Perich RM, et alk. A mutation in the sodium channel is responsible for the association of long QT syndrome and familial atrial fibrillation. Heart Rhythm 2008;5:1434 - 1440.

  • Clancy CE Rudy, Y. 2002. Na(+) channel mutation that causes both Brugada and long-QT syndrome phenotypes: a simulation study of mechanism. Circulation 2002; 105:1208-1213

  • Grant AO, Carboni MP, Neplioueva V, et al. Grant, A.O., et al. 2002. Long QT syndrome, Brugada syndrome, and conduction system disease are linked to a single sodium channel mutation. J Clin Invest 2002;110:1201-1209.

  • Kawata H, Noda T, Yamada Y, et al. Effect of sodium-channel blockade on early repolarization in inferior/lateral leads in patients with idiopathic ventricular fibrillation and Brugada syndrome. Heart Rhythm 2012; 9: 77-83.

  • Kyndt F, Probst V, Potet F, et al. Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family. Circulation 2001;104:3081 - 3086

  • Naomasa M. Phenotypic overlap of cardiac sodium channelopathies. Circ J. 2009;73:810-7.

  • Veldkamp MW, Wilders R, Baartscheer A, et al. Contribution of sodium channel mutations to bradycardia and sinus node dysfunction in LQT3 families. Circ Res 2003;92:976-983.

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Taquicardia Ventricular Polimórfica Catecolaminérgica (TVPC)

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Fibrilación Ventricular Idiopática

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