SCN5A overlap syndromes: No end to disease complexity?

Europace

Volumn 10, Issue 11, 2008, Pages 1253-1255

  Remme, Carol Ann ^a   Wilde, Arthur A M ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

SODIUM CHANNEL; SODIUM CHANNEL SCN5A; UNCLASSIFIED DRUG;

BRUGADA SYNDROME; EDITORIAL; GENE DELETION; GENE MUTATION; GENETIC POLYMORPHISM; HEART ARRHYTHMIA; HUMAN; LONG QT SYNDROME; LONG QT SYNDROME TYPE 3; PHENOTYPE; PRIORITY JOURNAL; SCN5A OVERLAP SYNDROME; ST SEGMENT ELEVATION;

BRUGADA SYNDROME; CARDIOMYOPATHY, DILATED; CHINA; DEATH, SUDDEN; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; MALE; MUSCLE PROTEINS; PREVALENCE; RISK ASSESSMENT; RISK FACTORS; SODIUM CHANNELS; SYNDROME;

EID: 55249092469     PISSN: 10995129     EISSN: 15322092     Source Type: Journal    
DOI: 10.1093/europace/eun267     Document Type: Editorial

References (15)

1. Remme CA, Wilde AAM, Bezzina CR. Cardiac sodium channel overlap syndromes: different faces of SCN5A mutations. Trends Cardiovasc Med 2008;18:78-87.
2. + channel mutation causing both long-QT and Brugada syndromes. Circ Res 1999;85:1206-13.
3. Van den Berg MP, Wilde AAM, Viersma JW, Brouwer J, Haaksma J, van der Hout AH et al. Possible bradycardic mode of death and successful pacemaker treatment in a large family with features of long QT syndrome type 3 and Brugada syndrome. J Cardiovasc Electrophysiol 2001;12:630-6.
4. Shi R, Zhang Y, Yang C, Huang C, Zhou X, Qiang H et al. The cardiac sodium channel mutation delQKP1507-1509 is associated with the expanding phenotypic spectrum of LQT3, conduction disorder, dilated cardiomyopathy and high incidence of youth sudden death. Europace 2008;10:1329-35.
5. Zareba W, Sattari MN, Rosero S, Couderc JP, Moss AJ. Altered atrial, atrioventricular, and ventricular conduction in patients with the long QT syndrome caused by the DeltaKPQ SCN5A sodium channel gene mutation. Am J Cardiol 2001;88:1311-4.
6. Grant AO, Carboni MP, Neplioueva V, Starmer CF, Memmi M, Napolitano C et al. Long QT syndrome, Brugada syndrome, and conduction system disease are linked to a single sodium channel mutation. J Clin Invest 2002;110:1201-9.
7. Remme CA, Verkerk AO, Nuyens D, van Ginneken ACG, van Brunschot S, Belterman CNW et al. Overlap syndrome of cardiac sodium channel disease in mice carrying the equivalent mutation of human SCN5A-1795insD. Circulation 2006;114:2584-94.
8. Scicluna BP, Wilde AW, Bezzina CR. The primary arrhythmia syndromes: same mutation, different manifestations. Are we starting to understand why? J Cardiovasc Electrophysiol 2008;19:445-52.
9. Bezzina CR, Remme CA. Dilated cardiomyopathy due to sodium channel dysfunction: what is the connection? Circ Arrhythmia Electrophysiol 2008;1:80-2.
10. Benson DW, Wang DW, Dyment M, Knilans TK, Fish FA, Strieper MJ et al. Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). J Clin Invest 2003;112:1019- 28.
11. Keller DI, Acharfi S, Delacretaz E, Benammar N, Rotter M, Pfammatter JP et al. A novel mutation in SCN5A, delQKP 1507-1509, causing long QT syndrome: role of Q1507 residue in sodium channel inactivation. J Mol Cell Cardiol 2003;35:1513-21.
12. Liu K, Yang T, Viswanathan PC, Roden DM. New mechanism contributing to drug-induced arrhythmia: rescue of a misprocessed LQT3 mutant. Circulation 2005;112:3239-46.
13. Valdivia CR, Ackerman MJ, Tester DJ, Wada T, McCormack J, Ye B et al. A novel SCN5A arrhythmia mutation, M1766L, with expression defect rescued by mexiletine. Cardiovasc Res 2002;55:279-89.
14. + channel. Circ Res 2000;86:e91-7.
15. Ackerman MJ, Splawski I, Makielski JC, Tester DJ, Will ML, Timothy KW et al. Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing. Heart Rhythm 2004;15:600-7.