Complex Brugada syndrome inheritance in a family harbouring compound SCN5A and CACNA1C mutations

Basic Research in Cardiology

Volumn 109, Issue 6, 2014, Pages

  Béziau, Delphine M ^a,b,c,l   Barc, Julien ^a,b,c   O’Hara, Thomas ^d   Le Gloan, Laurianne ^a,b,c   Amarouch, Mohamed Yassine ^a,b,c,m   Solnon, Aude ^e,f,g   Pavin, Dominique ^e,f,g   Lecointe, Simon ^a,b,c   Bouillet, Patricia ^e,f,g   Gourraud, Jean Baptiste ^a,b,c   Guicheney, Pascale ^h,i   Denjoy, Isabelle ^h,i,j   Redon, Richard ^a,b,c   Mabo, Philippe ^e,f,g   le Marec, Hervé ^a,b,c   Loussouarn, Gildas ^a,b,c   Kyndt, Florence ^a,b,c,k   Schott, Jean Jacques ^a,b,c   Probst, Vincent ^a,b,c   Baró, Isabelle ^a,b,c  

^a L INSTITUT DU THORAX   (France)

^b CNRS   (France)

^c UNIVERSITÉ DE NANTES   (France)

^d Johns Hopkins University   (United States)

^e INSERM   (France)

^f UNIVERSITÉ DE RENNES 1   (France)

^g RENNES UNIVERSITY HOSPITAL   (France)

^h Sorbonne Universités   (France)

ⁱ SORBONNE UNIVERSITÉ   (France)

^j BICHAT HOSPITAL   (France)

^k NANTES UNIVERSITY HOSPITAL   (France)

^l MONTREAL HEART INSTITUTE   (Canada)

^m SIDI MOHAMED BEN ABDELLAH UNIVERSITY   (Morocco)

more..

Author keywords

Brugada Syndrome; CACNA1C; Genetics; SCN5A; Sudden cardiac death

Indexed keywords

CALCIUM CHANNEL; CALCIUM CHANNEL CAV1.2; SODIUM CHANNEL NAV1.5; UNCLASSIFIED DRUG; CACNA1C PROTEIN, HUMAN; CALCIUM CHANNEL L TYPE; SCN5A PROTEIN, HUMAN;

ABCC9 GENE; ADULT; AGED; ANIMAL CELL; ARTICLE; BRUGADA SYNDROME; CACNA1C GENE; CLINICAL ARTICLE; COMPUTER SIMULATION; CONTROLLED STUDY; FEMALE; GENE; GENE EXPRESSION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEART MUSCLE CONDUCTION DISTURBANCE; HUMAN; INHERITANCE; LOSS OF FUNCTION MUTATION; MALE; MIDDLE AGED; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONHUMAN; NONSENSE MUTATION; PATCH CLAMP TECHNIQUE; QT INTERVAL; SCN5A GENE; VERY ELDERLY; WESTERN BLOTTING; YOUNG ADULT; ANIMAL; CASE REPORT; CHLOROCEBUS AETHIOPS; COS 1 CELL LINE; GENETICS; MUTATION; PEDIGREE;

ADULT; AGED, 80 AND OVER; ANIMALS; BRUGADA SYNDROME; CALCIUM CHANNELS, L-TYPE; CERCOPITHECUS AETHIOPS; COS CELLS; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; NAV1.5 VOLTAGE-GATED SODIUM CHANNEL; PEDIGREE; YOUNG ADULT;

EID: 84925937576     PISSN: 03008428     EISSN: 14351803     Source Type: Journal    
DOI: 10.1007/s00395-014-0446-5     Document Type: Article

References (34)

1. 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, Haïssaguerre M, Schimpf R, Borggrefe M, Wolpert C (2007) 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 115:442–449. doi:10.1161/CIRCULATIONAHA.106.668392
2. Behr ER, Casey A, Sheppard M, Wright M, Bowker TJ, Davies MJ, McKenna WJ, Wood DA (2007) Sudden arrhythmic death syndrome: a national survey of sudden unexplained cardiac death. Heart 93:601–605. doi:10.1136/hrt.2006.099598
3. Bellocq C, Wilders R, Schott JJ, Louérat-Oriou B, Boisseau P, Le Marec H, Escande D, Baró I (2004) A common antitussive drug, clobutinol, precipitates the long QT syndrome 2. Mol Pharmacol 66:1093–1102. doi:10.1124/mol.104.001065
4. Benson DW, Wang DW, Dyment M, Knilans TK, Fish FA, Strieper MJ, Rhodes TH, George AL Jr (2003) Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). J Clin Invest 112:1019–1028. doi:10.1172/JCI18062
5. Berne P, Brugada J (2012) Brugada syndrome 2012. Circ J 76:1563–1571. doi:10.1253/circj.CJ-12-0717
6. Bezzina CR, Barc J, Mizusawa Y, Remme CA, Gourraud JB, Simonet F, Verkerk AO, Schwartz PJ, Crotti L, Dagradi F, Guicheney P, Fressart V, Leenhardt A, Antzelevitch C, Bartkowiak S, Borggrefe M, Schimpf R, Schulze-Bahr E, Zumhagen S, Behr ER, Bastiaenen R, Tfelt-Hansen J, Olesen MS, Kääb S, Beckmann BM, Weeke P, Watanabe H, Endo N, Minamino T, Horie M, Ohno S, Hasegawa K, Makita N, Nogami A, Shimizu W, Aiba T, Froguel P, Balkau B, Lantieri O, Torchio M, Wiese C, Weber D, Wolswinkel R, Coronel R, Boukens BJ, Bézieau S, Charpentier E, Chatel S, Despres A, Gros F, Kyndt F, Lecointe S, Lindenbaum P, Portero V, Violleau J, Gessler M, Tan HL, Roden DM, Christoffels VM, Le Marec H, Wilde AA, Probst V, Schott JJ, Dina C, Redon R (2013) Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death. Nat Genet 45:1044–1049. doi:10.1038/ng.2712
7. Brugada P, Brugada J (1992) 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 20:1391–1396. doi:10.1016/0735-1097(92)90253-J
8. Burashnikov E, Pfeiffer R, Barajas-Martinez H, Delpón E, Hu D, Desai M, Borggrefe M, Häissaguerre M, Kanter R, Pollevick GD, Guerchicoff A, Laiño 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 (2010) Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death. Heart Rhythm 7:1872–1882. doi:10.1016/j.hrthm.2010.08.026
9. Chugh SS, Kelly KL, Titus JL (2000) Sudden cardiac death with apparently normal heart. Circulation 102:649–654. doi:10.1161/01.CIR.102.6.649
10. v1.5 alpha-subunits. Cardiovasc Res 96:53–63. doi:10.1093/cvr/cvs211
11. Dolmatova E, Mahida S, Ellinor PT, Lubitz SA (2013) Genetic etiology and evaluation of sudden cardiac death. Curr Cardiol Rep 15:389. doi:10.1007/s11886-013-0389-8
12. Dolz-Gaitón P, Núñez M, Núñez L, Barana A, Amorós I, Matamoros M, Pérez-Hernández M, González de la Fuente M, Alvarez-López M, Macías-Ruiz R, Tercedor-Sánchez L, Jiménez-Jáimez J, Delpón E, Caballero R, Tamargo J (2013) Functional characterization of a novel frameshift mutation in the C-terminus of the Nav1.5 channel underlying a Brugada syndrome with variable expression in a Spanish family. PLoS One 8:e81493. doi:10.1371/journal.pone.0081493
13. Gima K, Rudy Y (2002) Ionic current basis of electrocardiographic waveforms: a model study. Circ Res 90:889–896. doi:10.1161/01.RES.0000016960.61087.86
14. + channel mutation leading to loss of function and non-progressive cardiac conduction defects. J Mol Cell Cardiol 35:549–557. doi:10.1016/S0022-2828(03)00078-6
15. Hoshi M, Du XX, Shinlapawittayatorn K, Liu H, Chai S, Wan X, Ficker E, Deschênes I (2014) Brugada syndrome disease phenotype explained in apparently benign sodium channel mutations. Circ Cardiovasc Genet 7:123–131. doi:10.1161/CIRCGENETICS.113.000292
16. Hu D, Barajas-Martínez H, Terzic A, Park S, Pfeiffer R, Burashnikov E, Wu Y, Borggrefe M, Veltmann C, Schimpf R, Cai JJ, Nam GB, Deshmukh P, Scheinman M, Preminger M, Steinberg J, López-Izquierdo A, Ponce-Balbuena D, Wolpert C, Haïssaguerre M, Sánchez-Chapula JA, Antzelevitch C (2014) ABCC9 is a novel Brugada and early repolarization syndrome susceptibility gene. Int J Cardiol 171:431–442. doi:10.1016/j.ijcard.2013.12.084
17. Iyer V, Mazhari R, Winslow RL (2004) A computational model of the human left-ventricular epicardial myocyte. Biophys J 87:1507–1525. doi:10.1529/biophysj.104.043299
18. 2+ ions. J Biol Chem 280:12474–12485. doi:10.1074/jbc.M412140200
19. Letsas KP, Gavrielatos G, Efremidis M, Kounas SP, Filippatos GS, Sideris A, Kardaras F (2007) Prevalence of Brugada sign in a Greek tertiary hospital population. Europace 9:1077–1080. doi:10.1093/europace/eum221
20. Mezghrani A, Monteil A, Watschinger K, Sinnegger-Brauns MJ, Barrère C, Bourinet E, Nargeot J, Striessnig J, Lory P (2008) A destructive interaction mechanism accounts for dominant-negative effects of misfolded mutants of voltage-gated calcium channels. J Neurosci 28:4501–4511. doi:10.1523/JNEUROSCI.2844-07.2008
21. Neyroud N, Ziyadeh-Isleem A, Clatot J, Deschenes I, Coulombe A, Guicheney P (2014) Role of the N- and distal C-terminal domains in Nav1.5 alpha-subunit interaction. Cardiovasc Res 103(Suppl 1):S68. doi:10.1093/cvr/cvu091.54
22. Ng PC, Henikoff S (2001) Predicting deleterious amino acid substitutions. Genome Res 11:863–874. doi:10.1101/gr.176601
23. Page KM, Heblich F, Margas W, Pratt WS, Nieto-Rostro M, Chaggar K, Sandhu K, Davies A, Dolphin AC (2010) N terminus is key to the dominant negative suppression of Cav2 calcium channels: implications for episodic ataxia type 2. J Biol Chem 285:835–844. doi:10.1074/jbc.M109.065045
24. Pambrun T, Mercier A, Chatelier A, Patri S, Schott JJ, Le Scouarnec S, Chahine M, Degand B, Bois P (2014) Myotonic dystrophy type 1 mimics and exacerbates Brugada phenotype induced by Nav1.5 sodium channel loss-of-function mutation. Heart Rhythm 11:1393–1400. doi:10.1016/j.hrthm.2014.04.026
25. Priori SG, Wilde AA, Horie M, Cho Y, Behr ER, Berul C, Blom N, Brugada J, Chiang CE, Huikuri H, Kannankeril P, Krahn A, Leenhardt A, Moss A, Schwartz PJ, Shimizu W, Tomaselli G, Tracy C (2013) HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013. Heart Rhythm 10:1932–1963. doi:10.1016/j.hrthm.2013.05.014
26. Probst V, Allouis M, Sacher F, Pattier S, Babuty D, Mabo P, Mansourati J, Victor J, Nguyen JM, Schott JJ, Boisseau P, Escande D, Le Marec H (2006) Progressive cardiac conduction defect is the prevailing phenotype in carriers of a Brugada syndrome SCN5A mutation. J Cardiovasc Electrophysiol 17:270–275. doi:10.1111/j.1540-8167.2006.00349.x
27. Probst V, Wilde AA, Barc J, Sacher F, Babuty D, Mabo P, Mansourati J, Le Scouarnec S, Kyndt F, Le Caignec C, Guicheney P, Gouas L, Albuisson J, Meregalli PG, Le Marec H, Tan HL, Schott JJ (2009) SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome. Circ Cardiovasc Genet 2:552–557
28. Ramensky V, Bork P, Sunyaev S (2002) Human non-synonymous SNPs: server and survey. Nucleic Acids Res 30:3894–3900. doi:10.1093/nar/gkf493
29. Risgaard B, Jabbari R, Refsgaard L, Holst AG, Haunsø S, Sadjadieh A, Winkel BG, Olesen MS, Tfelt-Hansen J (2013) High prevalence of genetic variants previously associated with Brugada syndrome in new exome data. Clin Genet 84:489–495. doi:10.1111/cge.12126
30. Schott JJ, Alshinawi C, Kyndt F, Probst V, Hoorntje TM, Hulsbeek M, Wilde AA, Escande D, Mannens MM, Le Marec H (1999) Cardiac conduction defects associate with mutations in SCN5A. Nat Genet 23:20–21. doi:10.1161/CIRCGENETICS.109.853374
31. Schulze-Bahr E, Eckardt L, Breithardt G, Seidl K, Wichter T, Wolpert C, Borggrefe M, Haverkamp W (2003) Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: different incidences in familial and sporadic disease. Hum Mutat 21:651–652. doi:10.1002/humu.9144
32. Six I, Hermida JS, Huang H, Gouas L, Fressart V, Benammar N, Hainque B, Denjoy I, Chahine M, Guicheney P (2008) The occurrence of Brugada syndrome and isolated cardiac conductive disease in the same family could be due to a single SCN5A mutation or to the accidental association of both diseases. Europace 10:79–85. doi:10.1093/europace/eum271
33. Tang ZZ, Liao P, Li G, Jiang FL, Yu D, Hong X, Yong TF, Tan G, Lu S, Wang J, Soong TW (2008) Differential splicing patterns of L-type calcium channel Cav1.2 subunit in hearts of Spontaneously Hypertensive Rats and Wistar Kyoto Rats. Biochim Biophys Acta 1783:118–130. doi:10.1016/j.bbamcr.2007.11.003
34. Wang Q, Shen J, Splawski I, Atkinson D, Li Z, Robinson JL, Moss AJ, Towbin JA, Keating MT (1995) SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 80:805–811. doi:10.1016/0092-8674(95)90359-3