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Artículos y revisiones de interés
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Schwartz PJ, Crotti L, George AL Jr. Modifier genes for sudden cardiac death. Eur Heart J. 2018 Nov 21;39(44):3925-3931. doi: 10.1093/eurheartj/ehy502.
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Tester DJ, Wong LCH, Chanana P, Jaye A, Evans JM, FitzPatrick DR, Evans MJ5, Fleming P6, Jeffrey I7, Cohen MC8, Tfelt-Hansen J9, Simpson MA3, Behr ER10, Ackerman MJ11. Cardiac Genetic Predisposition in Sudden Infant Death Syndrome. J Am Coll Cardiol. 2018 Mar 20;71(11):1217-1227. doi: 10.1016/j.jacc.2018.01.030.
Musa H, Murphy NP, Curran J, Higgins JD, Webb TR, Makara MA, Wright P, Lancione PJ, Lubbers ER, Healy JA, Smith SA, Bennett V, Hund TJ, Kline CF, Mohler PJ. Common human ANK2 variant confers in vivo arrhythmia phenotypes. Heart Rhythm. 2016 Sep;13(9):1932-40. doi: 10.1016/j.hrthm.2016.06.012. Epub 2016 Jun 11.
Spoonamore KG, Ware SM. Genetic testing and genetic counseling in patients with sudden death risk due to heritable arrhythmias. Heart Rhythm. 2016 Mar;13(3):789-97. doi: 10.1016/j.hrthm.2015.11.013.
Koizumi A, Sasano T, Kimura W, Miyamoto Y, Aiba T, Ishikawa T, Nogami A, Fukamizu S, Sakurada H, Takahashi Y, Nakamura H, Ishikura T, Koseki H, Arimura T, Kimura A, Hirao K, Isobe M, Shimizu W, Miura N, Furukawa T. Genetic defects in a His-Purkinje system transcription factor, IRX3, cause lethal cardiac arrhythmias. Eur Heart J. 2016 May 7;37(18):1469-75. doi: 10.1093/eurheartj/ehv449.
Ackerman MJ, Zipes DP, Kovacs RJ, Maron BJ. Eligibility and Disqualification Recommendations for Competitive Athletes With Cardiovascular Abnormalities: Task Force 10: The Cardiac Channelopathies: A Scientific Statement From the American Heart Association and American College of Cardiology. J Am Coll Cardiol. 2015 Dec 1;66(21):2424-8. doi: 10.1016/j.jacc.2015.09.042. Epub 2015 Nov 2.
Obeyesekere MN, Antzelevitch C, Krahn AD.
Management of ventricular arrhythmias in suspected channelopathies. Circ Arrhythm Electrophysiol. 2015 Feb;8(1):221-31.
Lubitz SA, Ellinor PT. Next-generation sequencing for the diagnosis of cardiac arrhythmia syndromes.
Heart Rhythm. 2015 May;12(5):1062-70. doi: 10.1016/j.hrthm. 2015 .01.011.
Schwartz PJ, Ackerman MJ, George AL Jr, Wilde AA. Impact of genetics on the clinical management of channelopathies. J Am Coll Cardiol. 2013;62:169-80
Lin H , Dolmatova EV , Morley MP , Lunetta KL, McManus DD, Magnani JW, Margulies KB , Hakonarson H , del Monte F , Benjamin EJ , Cappola TP, Ellinor PT.
Heart Rhythm. Gene expression and genetic variation in human atrial. 2014 Feb;11(2):266-71. doi: 10.1016/j.hrthm.2013.10.051.
Crotti L, Johnson CN, Graf E, De Ferrari GM, Cuneo BF, Ovadia M, Papagiannis J,
Feldkamp MD, Rathi SG, Kunic JD, Pedrazzini M, Wieland T, Lichtner P, Beckmann
BM, Clark T, Shaffer C, Benson DW, Kääb S, Meitinger T, Strom TM, Chazin WJ,
Schwartz PJ, George AL
Calmodulin mutations associated with recurrent cardiac arrest in infants. Circulation. 2013 Mar 5;127(9):1009-17. doi: 10.1161/CIRCULATIONAHA.112.001216.
Mann SA, Castro ML, Ohanian M, Guo G, Zodgekar P, Sheu A, Stockhammer K, Thompson T, Playford D, Subbiah R, Kuchar D, Aggarwal A, Vandenberg JI, Fatkin D. R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated
cardiomyopathy.
J Am Coll Cardiol. 2012 Oct 16;60(16):1566-73.
Laurent G, Saal S, Amarouch MY, Béziau DM, Marsman RF, Faivre L, Barc J, Dina C, Bertaux G, Barthez O, Thauvin-Robinet C, Charron P, Fressart V, Maltret A, Villain E, Baron E, Mérot J, Turpault R, Coudière Y, Charpentier F, Schott JJ, Loussouarn G, Wilde AA, Wolf JE, Baró I, Kyndt F, Probst V. Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy.
1. J Am Coll Cardiol. 2012 Jul 10;60(2):144-56
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Canales Iónicos Cardiacos
Chen J, Makiyama T, Wuriyanghai Y, Ohno S, Sasaki K, Hayano M, Harita T, Nishiuchi S, Yuta Yamamoto, Ueyama T, Shimizu A, Horie M, Kimura T. Cardiac sodium channel mutation associated with epinephrine-induced QT prolongation and sinus node dysfunction. Heart Rhythm. 2016 Jan;13(1):289-98. doi: 10.1016/j.hrthm.2015.08.021.
McCoy JG, Nimigean CM. Structural correlates of selectivity and inactivation in potassium channels. Biochim Biophys Acta 2012;1818:272-285.
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Ackerman MJ, Priori SG, Willems S, Berul C, Brugada R, Calkins H, Camm AJ, Ellinor PT, Gollob M, Hamilton R, Hershberger RE, Judge DP, Le Marec H, McKenna WJ, Schulze-Bahr E, Semsarian C, Towbin JA, Watkins H, Wilde A, Wolpert C, Zipes DP. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Heart Rhythm 2011;8:1308-1339.
Alexander S, Mathie A, Peters J. Guide to receptors and channels (GRAC), 5 th edition. Br J Pharmacol 2011;164:S1-S364.
Anumonwo JM, Lopatin AN. Cardiac strong inward rectifier potassium channels. J Mol Cell Cardiol 2010;48:45-54.
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Lundby A, Tseng GN, Schmitt N. Structural basis for K(V)7.1-KCNE(x) interactions in the I(Ks) channel complex. Heart Rhythm 2010;7:708-713.
Lüscher C, Slesinger PA. Emerging roles for G protein-gated inwardly rectifying potassium (GIRK) channels in health and disease. Nat Rev Neurosci 2010; 11: 301-315.
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Physiol Rev 2009;89:847-885.
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Bodi I, Mikala G, Koch SE, et al. The L-type calcium channel in the heart: the beat goes on. J Clin Invest. 2005;115:3306-3317.
Clancy CE, Kass RS. I nherited and acquired vulnerability to ventricular arrhythmias: Cardiac Na + and K + Channels. Physiol Rev 2005;85:33-47.
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Bezanilla F. The voltage sensor in voltage-dependent ion channels.
Physiol Rev 2000; 80: 555-592.
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Síndrome de QT Largo
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Shimizu W, Makimoto H, Yamagata K, Kamakura T, Wada M, Miyamoto K, et al.
Association of Genetic and Clinical Aspects of Congenital Long QT Syndrome With Life-Threatening Arrhythmias in Japanese Patients.
JAMA Cardiol. 2019 Feb 13. doi: 10.1001/jamacardio.2018.4925. [Epub ahead of print]
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Schwartz PJ, Crotti L, George AL Jr. Modifier genes for sudden cardiac death. Eur Heart J. 2018 Nov 21;39(44):3925-3931. doi: 10.1093/eurheartj/ehy502.
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Grace AA, Matthews GDK. Phenotypic Landscape and Risk Management in Long QT Syndrome: Nudging Forward. J Am Coll Cardiol. 2018 Apr 17;71(15):1672-1675. doi: 10.1016/j.jacc.2018.02.040.
Mazzanti A, Maragna R, Vacanti G, Monteforte N, Bloise R, Marino M, Braghieri L, Gambelli P, Memmi M, Pagan E, Morini M, Malovini A, Ortiz M, Sacilotto L, Bellazzi R, Monserrat L, Napolitano C, Bagnardi V, Priori SG. Interplay Between Genetic Substrate, QTc Duration, and Arrhythmia Risk in Patients With Long QT Syndrome. J Am Coll Cardiol. 2018 Apr 17;71(15):1663-1671. doi: 10.1016/j.jacc.2018.01.078.
Früh A, Siem G, Holmström H, Døhlen G, Haugaa KH. The Jervell and Lange-Nielsen syndrome; atrial pacing combined with ß-blocker therapy, a favorable approach in young high-risk patients with long QT syndrome? Heart Rhythm. 2016 Nov;13(11):2186-2192. doi: 10.1016/j.hrthm.2016.07.020. Epub 2016 Jul 20.
Robyns T, Willems R, Vandenberk B, Ector J, Garweg C, Kuiperi C, Breckpot J, Corveleyn A, Janssens S, Heidbuchel H, Nuyens D. Individualized corrected QT interval is superior to QT interval corrected using the Bazett formula in predicting mutation carriage in families with long QT syndrome. Heart Rhythm. 2017 Mar;14(3):376-382. doi: 10.1016/j.hrthm.2016.11.034.
Puckerin A, Aromolaran KA, Chang DD, Zukin RS, Colecraft HM, Boutjdir M, Aromolaran AS. hERG 1a LQT2 C-terminus truncation mutants display hERG 1b-dependent dominant negative mechanisms. Heart Rhythm. 2016 May;13(5):1121-30. doi: 10.1016/j.hrthm.2016.01.012. Epub 2016 Jan 13.
Ruwald MH, Xu Parks X, Moss AJ, Zareba W, Baman J, McNitt S, Kanters JK, Shimizu W, Wilde AA, Jons C, Lopes CM. Stop-codon and C-terminal nonsense mutations are associated with a lower risk of cardiac events in patients with long QT syndrome type 1. Heart Rhythm. 2016 Jan;13(1):122-31. doi: 10.1016/j.hrthm.2015.08.033.
Amin AS, Wilde AA. Genetic screening in acquired long QT syndrome? CAUTION: proceed carefully. Eur Heart J. 2016 May 7;37(18):1465-8. doi: 10.1093/eurheartj/ehv620.
Itoh H, Crotti L, Aiba T, Spazzolini C, Denjoy I, Fressart V, Hayashi K, Nakajima T, Ohno S, Makiyama T, Wu J, Hasegawa K, Mastantuono E, Dagradi F, Pedrazzini M, Yamagishi M, Berthet M, Murakami Y, Shimizu W, Guicheney P, Schwartz PJ, Horie M. The genetics underlying acquired long QT syndrome: impact for genetic screening. Eur Heart J. 2016 May 7;37(18):1456-64. doi: 10.1093/eurheartj/ehv695.
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.
Mazzanti A, Maragna R, Faragli A, Monteforte N, Bloise R, Memmi M, Novelli V, Baiardi P, Bagnardi V, Etheridge SP, Napolitano C, Priori SG. Gene-Specific Therapy With Mexiletine Reduces Arrhythmic Events in Patients With Long QT Syndrome Type 3. J Am Coll Cardiol. 2016 Mar 8;67(9):1053-8.
Arbelo E, Sarquella-Brugada G, Brugada J. Gene-Specific Therapy for Congenital Long QT Syndrome: Are We There Yet? J Am Coll Cardiol. 2016 Mar 8;67(9):1059-61.
Yue Y, Castrichini M, Srivastava U, Fabris F, Shah K, Li Z, Qu Y, El-Sherif N, Zhou Z, January C, Hussain MM, Jiang XC, Sobie EA, Wahren-Herlenius M, Chahine M, Capecchi PL, Laghi-Pasini F, Lazzerini PE, Boutjdir M. Pathogenesis of the Novel Autoimmune-Associated Long-QT Syndrome. Circulation. 2015 Jul 28;132(4):230-40.
Altmann HM, Tester DJ, Will ML, Middha S, Evans JM, Eckloff BW, Ackerman MJ. Homozygous/Compound Heterozygous Triadin Mutations Associated With Autosomal-Recessive Long-QT Syndrome and Pediatric Sudden Cardiac Arrest: Elucidation of the Triadin Knockout Syndrome. Circulation. 2015 Jun 9;131(23):2051-60.
Porta A, Girardengo G, Bari V, George AL Jr, Brink PA, Goosen A, Crotti L, Schwartz PJ. Autonomic control of heart rate and QT interval variability influences arrhythmic risk in long QT syndrome type 1. J Am Coll Cardiol. 2015 Feb 3;65(4):367-74.
Baros DC , Giudicessi JR , Tester DJ , Ackerman MJ , Ohno S , Gollob MH, Burgess DE, Delisle BP. A KCNQ1 mutation contributes to the concealed type 1 long QT phenotype by limiting the Kv7.1 channel conformational changes associated with protein kinase A phosphorylation. Heart Rhythm. 2014 Mar;1(3):459-468.
Wu J, Naiki N, Ding W-G, Ohno S, Kato K, Zang W-J, Delisle BP, Matsuura H, Horie M. A molecular mechanism for adrenergic-induced Long QT Syndrome. Journal of the American College of Cardiology 2014;63:819-827.
Anderson JH, Bos JM, Cascino GD, Ackerman MJ. Prevalence and spectrum of electroencephalogram-identified epileptiform activity among patients with long QT syndrome. Heart Rhythm. 2014;11:53-7.
Schwartz PJ, Ackerman MJ.The long QT syndrome: a transatlantic clinical approach to diagnosis and therapy. Eur Heart J. 2013;34:3109-16.
Mullally J, Goldenberg I, Moss AJ, Lopes CM, Ackerman MJ, Zareba W, McNitt S,
Robinson JL, Benhorin J, Kaufman ES, Towbin JA, Barsheshet A. Risk of life-threatening cardiac events among patients with long QT synHorie M drome and
multiple mutations. Heart Rhythm. 2013 Mar;10(3):378-82.
Mathias A, Moss AJ, Lopes CM, Barsheshet A, McNitt S, Zareba W, Robinson JL,
Locati EH, Ackerman MJ, Benhorin J, Kaufman ES, Platonov PG, Qi M, Shimizu W,
Towbin JA, Michael Vincent G, Wilde AA, Zhang L, Goldenberg I. Prognostic implications of mutation-specific QTc standard deviation in congenital
long QT syndrome. Heart Rhythm. 2013 May;10(5):720-5
Hoosien M, Ellen Ahearn M, Myerburg RJ, Pham TV, Miller TE, Smets MJ,
Baumbach-Reardon L, Young ML, Farooq A, Bishopric NH. Dysfunctional potassium channel subunit interaction as a novel mechanism of long
QT syndrome. Heart Rhythm. 2013 May;10(5):728-37
Chockalingam P, Crotti L, Girardengo G, et al. Not All Beta-Blockers Are Equal in the Management of Long QT Syndrome Types 1 and 2. J Am Coll Cardiol 2012; 60:2092-2099.
Schwartz PJ, Crotti L, Insolia R. Long-QT Syndrome. From Genetics to Management. Circ: Arrhythmia Electrophysiol 2012; 5: 868-877.
Gemma LW, Ward GM, Dettmer MM, Ball JL, Leo PJ, Doria DN, Kaufman ES. ß -Blockers protect against dispersion of repolarization during exercise in congenital long-QT syndrome type 1. J Cardiovasc Electrophysiol. 2011;22:1141-1146.
Ackerman MJ, Mohler PJ. Defining a new paradigm for human arrhythmia syndromes:phenotypic manifestations of gene mutations in ion channel- and transporter-associated proteins. Circ Res 2010; 107:457-465.
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Kapa S, Tester DJ, Benjamin BS, et al. Distinguishing Pathogenic Mutations From Benign Variants. Genetic Testing for long-QT Syndrome. Circulation 2009;120:1752-1760
Schwartz PJ, Stramba-Badiale M, Crotti L, et al. Prevalence of the congenital long-QT syndrome. Circulation. 2009;120:1761-1767.
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Tester DJ, Will ML, Haglund CM, et al. Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm 2005;2:507-517
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Moss AJ, Zareba W, Kaufman ES, et al. Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel. Circulation 2002;105:794-799.
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Bennett PB, Yazawa K, Makita N, et al. Molecular mechanism for an inherited cardiac arrhythmia. Nature. 1995; 376: 683 - 685
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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
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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.
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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.
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Fibrilación Auricular
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Gregers E, Ahlberg G, Christensen T, Jabbari J, Larsen KO, Herfelt CB, Henningsen KM, Andreasen L, Thiis JJ, Lund J, Holme S, Haunsø S, Bentzen BH, Schmitt N, Svendsen JH, Olesen MS. Deep sequencing of atrial fibrillation patients with mitral valve regurgitation shows no evidence of mosaicism but reveals novel rare germline variants. Heart Rhythm. 2017 Oct;14(10):1531-1538. doi: 10.1016/j.hrthm.2017.05.027. Epub 2017 May 24.
Thorolfsdottir RB, Sveinbjornsson G, Sulem P, Helgadottir A, Gretarsdottir S, Benonisdottir S, Magnusdottir A, Davidsson OB, Rajamani S, Roden DM, Darbar D, Pedersen TR, Sabatine MS, Jonsdottir I, Arnar DO, Thorsteinsdottir U, Gudbjartsson DF, Holm H, Stefansson K. A Missense Variant in PLEC Increases Risk of Atrial Fibrillation. J Am Coll Cardiol. 2017 Oct 24;70(17):2157-2168. doi: 10.1016/j.jacc.2017.09.005.
Lee JY, Kim TH, Yang PS, Lim HE, Choi EK, Shim J, Shin E, Uhm JS, Kim JS, Joung B, Oh S, Lee MH, Kim YH, Pak HN. Korean atrial fibrillation network genome-wide association study for early-onset atrial fibrillation identifies novel susceptibility loci. Eur Heart J. 2017 Sep 7;38(34):2586-2594. doi: 10.1093/eurheartj/ehx213.
Tucker NR, Mahida S, Ye J, Abraham EJ, Mina JA, Parsons VA, McLellan MA, Shea MA, Hanley A, Benjamin EJ, Milan DJ, Lin H, Ellinor PT. Gain-of-function mutations in GATA6 lead to atrial fibrillation. Heart Rhythm. 2017 Feb;14(2):284-291. doi: 10.1016/j.hrthm.2016.10.014. Epub 2016 Oct 15.
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Di Pino A, Caruso E, Costanzo L, Guccione P. A novel RyR2 mutation in a 2-year-old baby presenting with atrial fibrillation, atrial flutter, and atrial ectopic tachycardia. Heart Rhythm. 2014;11(8):1480-1486.
Macri V, Mahida SN, Zhang ML, Sinner MF, Dolmatova EV, Tucker NR, McLellan M, Shea MA, Milan DJ, Lunetta KL, Benjamin EJ, Ellinor PT. A novel trafficking-defective HCN4 mutation is associated with early-onset atrial fibrillation. Heart Rhythm. 2014;11(6):1055-62.
Liang B, Soka M, Christensen AH, Olesen MS, Larsen AP , Knop FK, Wang F, Nielsen JB, Andersen MN, Humphreys D, Mann SA, Huttner IG, Vandenberg J, Svendsen JH, Haunsø, Preiss T, Seebohm G, Olesen SP, Schmitt N, Fatkin D. Genetic variation in the two-pore domain potassium channel, TASK-1, may contribute to an atrial substrate for arrhythmogenesis. J Mol Cell Cardiol. 2014;67:69-76.
Hasegawa K, Ohno S, Ashihara T, Itoh H, Ding WG, Toyoda F, Makiyama T, Aoki H, Nakamura Y, Delisle BP, Matsuura H, Horie M. A novel KCNQ1 missense mutation identified in a patient with juvenile-onset atrial fibrillation causes constitutively open IKs channels. Heart Rhythm. 2014;11:67-75.
Beavers DL, Wang W, Ather S, Voigt N, Garbino A, Dixit SS, Landstrom AP, Li N,
Wang Q, Olivotto I, Dobrev D, Ackerman MJ, Wehrens XH.
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Draguhn A, Bruehl C, Katus HA, Koenen M. Altered HCN4 channel C-linker interaction is associated with familial
tachycardia-bradycardia syndrome and atrial fibrillation. Eur Heart J. 2013 Sep;34(35):2768-75.
Chen YH, Xu SJ, Bendahhou S, Wang XL, Wang Y, Xu WY, et al. KCNQ1 gain-of-function mutation in familial atrial fibrillation. Science 2003; 299: 251 -25 4.
Darbar D, Herron KJ, Ballew JD, et al. Familial atrial fibrillation is a genetically heterogeneous disorder. J Am Coll Cardiol. 2003;41:2185-2192.
Darbar D, Kannankeril PJ, Donahue BS, et al. Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. Circulation 2008; 117: 1927 - 35
Delaney JT, Muhammad R, Blair MA, et al. A KCNJ8 mutation associated with early repolarization and atrial fibrillation. Europace 2012;14:1428-1432.
Ehrlich JR, Biliczki P, Hohnloser SH, et al. Atrial-selective approaches for the treatment of atrial fibrillation. J Am Coll Cardiol 2008; 51:787-792.
Hodgson-Zingman DM, Karst ML, et al. Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation. N Engl J Med. 2008;359:158-165.
Johnson JN, Tester DJ, Perry J, Salisbury BA, Reed CR, Ackerman MJ. Prevalence of early-onset atrial fibrillation in congenital long QT syndrome. Heart Rhythm 2008; 5:704-709.
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Kneller J, Kalifa J, Zou R, Zaitsev AV, Warren M, Berenfeld O et al. Mechanisms of atrial fibrillation termination by pure sodium channel lockade in an ionically-realistic mathematical model. Circ Res 2005; 96:e35-e47.
Li Q, Huang H, Liu G, Lam K, et al. Gain-of-function mutation of Nav1.5 in atrial fibrillation enhances cellular excitability and lowers the threshold for action potential firing. Biochem Biophys Res Commun 2009;380:132 - 137.
Mahida S, Lubitz SA, Rienstra M, et al. Monogenic atrial fibrillation as pathophysiological paradigms. Cardiovasc Res. 2011;89:692-700.
Olson TM, Alekseev AE, Liu XK, Park S, Zingman LV, Bienengraeber M, et al. Kv1.5 channelopathy due to KCNA5 loss-of-function mutation causes human atrial fibrillation. Hum Mol Genet 2006; 15: 2185 -21 91.
Olson TM, Michels VV, Ballew JD, Reyna SP, Karst ML, Herron KJ et al. Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. JAMA 2005; 293:447-454.
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Síndromes de Repolarización Temprana
Ahn J, Roh SY, Lee DI, Shim J, Choi JI, Kim YH. Effect of flecainide on suppression of ventricular fibrillation in a patient with early repolarization syndrome. Heart Rhythm. 2016 Aug;13(8):1724-8. doi: 10.1016/j.hrthm.2016.03.051. Epub 2016 Mar 28.
Patocskai B, Barajas-Martinez H, Hu D, Gurabi Z, Koncz I, Antzelevitch C. Cellular and ionic mechanisms underlying the effects of cilostazol, milrinone, and isoproterenol to suppress arrhythmogenesis in an experimental model of early repolarization syndrome. Heart Rhythm. 2016 Jun;13(6):1326-34. doi: 10.1016/j.hrthm.2016.01.024.
Patton KK, Ellinor PT, Ezekowitz M, Kowey P, Lubitz SA, Perez M, Piccini J, Turakhia M, Wang P, Viskin S; American Heart Association Electrocardiography and Arrhythmias Committee of the Council on Clinical Cardiology and Council on Functional Genomics and Translational Biology. Electrocardiographic Early Repolarization: A Scientific Statement From the American Heart Association. Circulation. 2016 Apr 12;133(15):1520-9. doi: 10.1161/CIR.0000000000000388.
Macfarlane PW 1 , Antzelevitch C 2 , Haissaguerre M 3 , Huikuri HV 4 , Potse M 5 , Rosso R 6 , Sacher F 3 , Tikkanen JT 4 , Wellens H 7 , Yan GX 8 . The Early Repolarization Pattern : A Consensus Paper. J Am Coll Cardiol. 2015 Jul 28;66(4):470-7. doi: 10.1016/j.jacc. 2015 .05.033.
Obeyesekere MN, Klein GJ, Nattel S, Leong-Sit P, Gula LJ, Skanes AC, Yee R, Krahn
AD. A clinical approach to early repolarization. Circulation. 2013;127:1620-9.
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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)
Leren IS, Saberniak J, Majid E, Haland TF, Edvardsen T, Haugaa KH. Nadolol decreases the incidence and severity of ventricular arrhythmias during exercise stress testing compared with ß1-selective ß-blockers in patients with catecholaminergic polymorphic ventricular tachycardia. Heart Rhythm. 2016 Feb;13(2):433-40. doi: 10.1016/j.hrthm.2015.09.029. Epub 2015 Sep 30.
Bacic D, Carneiro JS, Bento AA, Nearing BD, Rajamani S, Belardinelli L, Verrier RL. Eleclazine, an inhibitor of the cardiac late sodium current, is superior to flecainide in suppressing catecholamine-induced ventricular tachycardia and T-wave alternans in an intact porcine model. Heart Rhythm. 2017 Mar;14(3):448-454. doi: 10.1016/j.hrthm.2016.10.021. Epub 2016 Oct 21.
Gray B, Bagnall RD, Lam L, Ingles J, Turner C, Haan E, Davis A, Yang PC, Clancy CE, Sy RW, Semsarian C. A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia. Heart Rhythm. 2016 Aug;13(8):1652-60. doi: 10.1016/j.hrthm.2016.05.004. Epub 2016 May 5.
Lieve KV1, van der Werf C, Wilde AA. Catecholaminergic Polymorphic Ventricular Tachycardia. Circ J. 2016 May 25;80(6):1285-91. doi: 10.1253/circj.CJ-16-0326.
de Ferrari GM, Dusi V, Spazzolini C, Bos JM, Abrams DJ, Berul CI, Crotti L, Davis AM, Eldar M, Kharlap M, Khoury A, Krahn AD, Leenhardt A, Moir CR, Odero A, Nordkamp LO, Paul T, Roses F, Shkolnikova M, till J, Wilde AAM, Ackerman MJ, Schwartz PJ. Clinical management of catecholominergic polymorphic ventricular tacycardia. Circulation 2015;131:2185-2193.
Khoury A, Marai I, Suleiman M, Blich M, Lorber A, Gepstein L, Boulos M. Flecainide therapy suppresses exercise-induced ventricular arrhythmias in patients with CASQ2-associated catecholaminergic polymorphic ventricular tachycardia. Heart Rhythm 2013;10:1671-1675.
Cerrone M, Napolitano C, Priori SG. Catecholaminergic polymorphic ventricular tachycardia: a paradigm to understand mechanisms of arrhythmias associated to impaired Ca 2+ regulation. Heart Rhythm 2009; 6:1652-1659.
Hayashi M, Denjoy I, Extramiana F, et al. Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia. Circulation 2009;119: 2426-2434
Leenhardt A, Denjoy I, Guicheney P. Catecholaminergic polymorphic ventricular tachycardia. Circ Arrhythm Electrophysiol 2012;5:1044-1052.
Uchinoumi H, Yano M, Suetomi T, Ono M, Xu X, Tateishi H, Oda T, Okuda S, Doi M, Kobayashi S, Yamamoto T, Ikeda Y, Ohkusa T, Ikemoto N, Matsuzaki M. Catecholaminergic polymorphic ventricular tachycardia is caused by mutation-linked defective conformational regulation of the ryanodine receptor. Circ Res. 2010;106:1413-1424.
Watanabe H, Chopra N, Laver D, et al. Flecainide prevents catecholaminergic polymorphic ventricular tachycardia in mice and humans. Nat Med 2009; 15:380-383.
van der Werf C, Kannankeril PJ, et al. Flecainide therapy reduces exercise-induced ventricular arrhythmias in patients with catecholaminergic polymorphic ventricular tachycardia. J Am Coll Cardiol 2011;57:2244-54.
Van Petegem F. Ryanodine receptors: structure and function. J Biol Chem 2012;287:31624-31632.
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Fibrilación Ventricular Idiopática
Marsman RF, Barc J, Beekman L, Alders M, Dooijes D, van den Wijngaard A, Ratbi I, Sefiani A, Bhuiyan ZA, Wilde AA, Bezzina CR. A mutation in CALM1 encoding calmodulin in familial idiopathic ventricular fibrillation in childhood and adolescence. J Am Coll Cardiol. 2014 Jan 28;63(3):259-66.
Ten Sande JN, Postema PG, Boekholdt SM, Tan HL, van der Heijden JF, de Groot NM, Volders PG, Zeppenfeld K, Boersma LV, Nannenberg EA, Christiaans I, Wilde AA. Detailed characterization of familial idiopathic ventricular fibrillation linked to the DPP6 locus. Heart Rhythm. 2016 Apr;13(4):905-12.
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