Brugada-like syndrome in infancy presenting with rapid ventricular tachycardia and intraventricular conduction delay

Circulation

Volumn 125, Issue 1, 2012, Pages 14-22

  Kanter, Ronald J ^a   Pfeiffer, Ryan ^b   Hu, Dan ^b   Barajas Martinez, Héctor ^a   Carboni, Michael P ^b   Antzelevitch, Charles ^b  

^a DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b MASONIC MEDICAL RESEARCH LABORATORY   (United States)

Author keywords

Brugada syndrome; bundle branch block; ion channel; ion channels; pediatrics; ventricular tachycardia

Indexed keywords

ADRENALIN; CALCIUM CHANNEL; CALCIUM CHANNEL BETA SUBUNIT; ESMOLOL; IBUPROFEN; LIDOCAINE; MEXILETINE; MILRINONE; PARACETAMOL; POTASSIUM CHANNEL KCNE1; PROCAINAMIDE; PROPRANOLOL; QUINIDINE; SODIUM CHANNEL NAV1.5; UNCLASSIFIED DRUG; VASOPRESSIN;

ARTICLE; BRUGADA SYNDROME; CHILD; CLINICAL ARTICLE; DEFIBRILLATION; DEFIBRILLATOR; DESCRIPTIVE RESEARCH; DRUG WITHDRAWAL; FEMALE; FEVER; FOLLOW UP; GENE MUTATION; GENETIC SCREENING; HEART ATRIUM FLUTTER; HEART DEPOLARIZATION; HEART ELECTROPHYSIOLOGY; HEART MUSCLE CONDUCTION DISTURBANCE; HEART VENTRICLE CONDUCTION DELAY; HEART VENTRICLE FIBRILLATION; HEART VENTRICLE TACHYCARDIA; HUMAN; HYPOTENSION; INFANT; INFANT DISEASE; MALE; PATHOGENESIS; PRESCHOOL CHILD; PRIORITY JOURNAL; QRS COMPLEX; RETROSPECTIVE STUDY; SIDE EFFECT;

BRUGADA SYNDROME; CALCIUM CHANNELS, L-TYPE; DIAGNOSIS, DIFFERENTIAL; ELECTROCARDIOGRAPHY; FEMALE; HEART CONDUCTION SYSTEM; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; RECURRENCE; RETROSPECTIVE STUDIES; SODIUM CHANNELS; TACHYCARDIA, VENTRICULAR;

EID: 84855406346     PISSN: 00097322     EISSN: 15244539     Source Type: Journal    
DOI: 10.1161/CIRCULATIONAHA.111.054007     Document Type: Article

References (42)

1. 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.
2. Probst V, Denjoy I, Meregalli PG, Amirault JC, Sacher F, Mansourati J, Babuty D, Villain E, Victor J, Schott JJ, Lupoglazoff JM, Mabo B, Veltmann C, Jesel L, Chevalier P, Clur SA, Hassaguerre M, Wolpert C, Le Marec H, Wilde AA. Clinical aspects and prognosis of Brugada syndrome in children. Circulation. 2007;115:2042-2048. (Pubitemid 46625955)
3. Priori SG, Napolitano C, Giordano U, Collisani G, Memmi M. Brugada syndrome and sudden cardiac death in children. Lancet. 2000;355: 808-809. (Pubitemid 30128825)
4. Chen Q, Kirsch GE, Zhang D, Brugada R, Brugada J, Brugada P, Potenza D, Moya A, Borggrefe M, Breithardt G, Ortiz-Lopez R, Wang Z, Antzelevitch C, O'Brien RE, Schulze-Bahr E, Keating MT, Towbin JA, Wang Q. Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature. 1998;392:293-296. (Pubitemid 28155103)
5. Kapplinger JD, Tester DJ, Alders M, Benito B, Berthet M, Brugada J, Brugada P, Fressart V, Guerchicoff A, Harris-Kerr C, Kamakura S, Kyndt F, Koopmann TT, Miyamoto Y, Pfeiffer R, Pollevick GD, Probst V, Zumhagen S, Vatta M, Towbin JA, Shimizu W, Schulze-Bahr E, Anztelevitch C, Salisbury BA, Gueicheney P, Wilde AA, Brugada R, Schott JJ, Ackerman MA. An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010;7:33-46.
6. Antzelevitch C, Pollevick GD, Cordeiro JM, Casis O, Sanguinetti MC, Aizawa Y, Guerchicoff A, Pfeiffer R, Oliva A, Wollnik B, Gelber P, Bonaros EP Jr, Burashnikov E, Wu Y, Sargent JD, Schickel S, Oberheiden R, Bhatia A, Hsu LF, Hassaguerre M, Schimpf R, Borggrefe M, Wolpert C. Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death. Circulation. 2007;115: 442-449. (Pubitemid 46184195)
7. Burashnikov E, Pfeiffer R, Barajas-Martinez H, Helpón E, Hu D, Desai M, Borggrefe M, Hassaguerre M, Kanter R, Pollevick GD, Lainëo R, Marieb M, Nademanee K, Nam GB, Robles R, Schimpf R, Stapleton DD, Viskin S, Winters S, Wolpert C, Zimmern S, Veltmann C, Antzelevitch C. Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death. Heart Rhythm. 2010;7:1872-1882.
8. London B, Michalec M, Mehdi H, Zhu X, Kerchner L, Sanyal S, Viswanathan PC, Pfahnl AE, Shang LL, Madhusudanan M, Baty CJ, Lagana S, Aleong R, Gutmann R, Ackerman MJ, McNamara DM, Weiss R, Dudley SC Jr. Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na- current and causes inherited arrhythmias. Circulation. 2007;116:2260-2268. (Pubitemid 350100331)
9. Watanabe H, Koopmann TT, Le Scouarnec S, Yang T, Ingram CR, Schott JJ, Demolombe S, Probst V, Anselme F, Escande D, Eiesfeld AC, Pfeufer A, Kääb S, Wichmann HE, Hasdemir C, Aizawa Y, Wilde AA, Roden DM, Bezzina CR. Sodium channel beta1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. J Clin Invest. 2008;118:2260-2268. (Pubitemid 351872343)
10. Delpón E, Cordeiro JM, Núnëez L, Thomsen PE, Guerchicoff A, Pollevick GD, Wu Y, Kanters JK, Larsen CT, Hofman-Bang J, Burashnikov E, Christiansen M, Antzelevitch C. Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome. Circ Arrhythm Electrophysiol. 2008;1:209-218.
11. Hu D, Barajas-Martinez H, Burashnikov E, Springer M, Wu Y, Varro A, Pfeiffer R, Koopmann TT, Cordeiro JM, Guerchicoff A, Pollevick GD, Antzelevitch C. A mutation in the beta 3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype. Circ Cardiovasc Genet. 2009;2:270-278.
12. Medeiros-Domingo A, Tan BH, Crotti L, Tester DJ, Eckhardt L, Cuoretti A, Kroboth SL, Song C, Zhou Q, Kopp D, Schwartz PJ, Makielski JC, Ackerman MJ. Gain-of-function mutation S422L in the KCNJ8-encoded cardiac K(ATP) channel Kir6.1 as a pathogenic substrate for J-wave syndromes. Heart Rhythm. 2010;7:1466-1471.
13. Giudicessi JR, Ye D, Tester DJ, Crotti L, Mugione A, Nesterenko VV, Alberson RM, Antzelevitch C, Schwartz PJ, Ackerman MJ. Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome. Heart Rhythm. 2011;8:1024-1032.
14. Kattygnarath D, Maugenre S, Neyroud N, Balse E, Ichai C, Denjoy I, Dilanian G, Martins RP, Fressart V, Berthet M, Schott JJ, Leenhardt A, Probst V, Le Marec H, Hainque B, Coulombe A, Hatem SN, Guicheney P. MOG1: a new susceptibility gene for Brugada syndrome. Circ Cardiovasc Genet. 2011;4:261-268.
15. Roggen A, Pavlovic M, Pfammatter JP. Frequency of spontaneous ventricular tachycardia in a pediatric population. Am J Cardiol. 2008;101: 852-854.
16. Wilde AA, Antzelevitch C, Borggrefe M, Brugada J, Brugada R, Brugada P, Corrado D, Hauer RN, Kass RS, Nademanee K, Priori SG, Towbin JA. Proposed diagnostic criteria for the Brugada syndrome. Eur Heart J. 2002;23:1648-1654. (Pubitemid 36287775)
17. Benito B, Brugada R, Brugada J, Brugada P. Brugada syndrome. Prog Cardiovasc Dis. 2008;51:1-22. (Pubitemid 351965498)
18. Makiyama T, Akao M, Tsuji K, Doi T, Ohno S, Takenaka K, Kobori A, Ninomya T, Yoshida H, Takano M, Nakita N, Yanagisawa F, Higashi Y, Takeyama Y, Kita T, Horie M. High risk for bradycardiac complications in patients with Brugada syndrome caused by SCN5A gene mutations. J Am Coll Cardiol. 2005;46:2100-2106. (Pubitemid 41713598)
19. Barajas-Martinez H, Hu D, Burashnikov E, Pfeiffer R, Kanter R, Antzelevitch C. A novel mutation (D538E) in CACNB2b associated with infant Brugada syndrome. Circulation. 2010;122:A15855.
20. Iturralde-Torres P, Nava-Townsend S, Gómez-Flores J, Medeiros-Domingo A, Coln-Lizalde L, Hermosillo AG, Vicoria D, Márquez MF. Association of congenital, diffuse electrical disease in children with normal heart: sick sinus syndrome, intraventricular conduction block, and monomorphic ventricular tachycardia. J Cardiovasc Electrophysiol. 2008;19:550-555. (Pubitemid 351623903)
21. Lee YS, Baek JS, Kim SY, Seo SW, Kwon BS, Kim GB, Bae EJ, Park SS, Noh CI. Childhood Brugada syndrome in two Korean families. Korean Circ J. 2010;40:143-147.
22. Moltedo JM, Abello M. Ventricular flutter in a child with Brugada syndrome. Resuscitation. 2010;81:643-644.
23. Plunkett A, Hulse JA, Mishra B, Gill J. Variable presentation of Brugada syndrome: lessons from three generations with syncope. BMJ. 2003;326: 1078-1079. (Pubitemid 36629729)
24. Sastry BK, Narasimhan C, Soma Raju B. Brugada syndrome with monomorphic ventricular tachycardia in a one-year-old child. Indian Heart J. 2001;53:203-205. (Pubitemid 33606487)
25. Skinner JR, Chung SK, Montgomery D, McCulley CH, Crawford J, French J, Rees MI. Near-miss SIDS due to Brugada syndrome. Arch Dis Child. 2005;90:528-529. (Pubitemid 40627454)
26. Skinner JR, Chung SK, Nel CA, Shelling AN, Crawford JR, McKenzie N, Pinnock R, French JK, Rees MI. Brugada syndrome masquerading as febrile seizures. Pediatrics. 2007;119:e1206-e1211. (Pubitemid 46715698)
27. Suzuki H, Torigoe K, Numata O, Yazaki S. Infant case with a malignant form of Brugada syndrome. J Cardiovasc Electrophysiol. 2000;11: 1277-1280.
28. Todd SJ, Campbell MJ, Roden DM, Kannankeril PJ. Novel Brugada SCN5A mutation causing sudden death in children. Heart Rhythm. 2005; 2:540-543. (Pubitemid 40521372)
29. Vatta M, Dumaine R, Varghese G, Richard TA, Shimizu W, Aihara N, Nademanee K, Brugada R, Brugada J, Veerakul G, Li H, Bowles NE, Brugada P, Antzelevitch C, Towbin JA. Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome. Hum Mol Genet. 2002;11:337-345. (Pubitemid 34173363)
30. Ackerman MJ, Siu BL, Sturner WQ, Tester DJ, Valdivia CR, Makielski JC, Towbin JA. Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome. JAMA. 2001;286:2264-2269. (Pubitemid 33063149)
31. Sanatani S, Mahkseed N, Vallance H, Brugada R. The Brugada ECG pattern in a neonate. J Cardiovasc Electrophysiol. 2005;16:342-344. (Pubitemid 40404602)
32. Robinson JD, Melman Y, Walsh EP. Cardiac conduction disturbances and ventricular tachycardia after prolonged propofol infusion in an infant. Pacing Clin Electrophysiol. 2008;31:1070-1073.
33. Lizotte E, Junttila MJ, Dube MP, Hong K, Benito B, DE Zutter M, Henkens S, Sarkozy A, Huikuri HV, Towbin J, Vatta M, Brugada P, Brugada J, Brugada R. Genetic modulation of Brugada syndrome by a common polymorphism. J Cardiovasc Electrophysiol. 2009;20: 1137-1341.
34. Bassani RA. Transient outward potassium current and Ca2+ homeostasis in the heart: beyond the action potential. Braz J Med Biol Res. 2006;39: 393-403. (Pubitemid 43355004)
35. Plotnikov AN, Sosunov EA, Patberg KW, Anykhovsky EP, Gainullin RZ, Shlapakova IN, Krishnamurthy G, Danilo P Jr, Rosen MR. Cardiac memory evolves with age in association with development of the transient outward current. Circulation. 2004;110:489-495. (Pubitemid 39031163)
36. Postema PG, van Dessel PF, de Bakker JM, Dekker LR, Linnenbank AC, Hoogendijk MG, Coronel R, Tijssen JG, Wilde AA, Tan HL. Slow and discontinuous conduction conspire in Brugada syndrome: a right ventricular mapping and stimulation study. Circ Arrhythm Electrophysiol. 2008; 1:379-386.
37. Nademanee K, Veerakul G, Chandanamattha P, Chaothawee L, Ariyachaipanich A, Jirasirirojanakorn K, Likittanasombat K, Bhuripanyo K, Ngarmulko T. Prevention of ventricular fibrillation episodes in Brugada syndrome by catheter ablation over the anterior right ventricular outflow tract epicardium. Circulation. 2011;123:1270-1279.
38. Chockalingam P, Rammeloo LA, Postema PG, Hruda J, Clur SA, Blom NA, Wilde AA. Fever-induced life-threatening arrhythmias in children harboring an SCN5A mutation. Pediatrics. 2011;127:e239-e244.
39. Barajas-Martinez HM, Hu D, Cordeiro JM, Wu Y, Kovacs RJ, Meltser H, Kui H, Elena B, Brugada R, Anztelevitch C, Dumaine R. Lidocaineinduced Brugada syndrome phenotype linked to a novel double mutation in the cardiac sodium channel. Circ Res. 2008;103:396-404.
40. Itoh H, Tsuji K, Sakaguchi T, Nagaoka I, Oka Y, Nakazawa Y, Yao T, Jo H, Ashihara T, Ito M, Horie M, Imoto K. A paradoxical effect of lidocaine for the N406S mutation of SCN5A associated with Brugada syndrome. Int J Cardiol. 2007;121:239-248. (Pubitemid 47445801)
41. Qu J, Robinson RB. Cardiac ion channel expression and regulation: the role of innervation. J Mol Cell Cardiol. 2004;37:439-448. (Pubitemid 38953372)
42. Stephenson EA, Batra AS, Knilans TK, Gow RM, Gradaus R, Balaji S, Dubin AM, Rhee EK, Ro PS, Thrgersen AM, Cecchin F, Triedman JK, Walsh EP, Berul CI. A multicenter experience with novel implantable cardioverter defibrillator configurations in the pediatric and congenital heart disease population. J Cardiovasc Electrophysiol. 2006;17:41-46.