Transient outward current (I to) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome

Heart Rhythm

Volumn 8, Issue 7, 2011, Pages 1024-1032

  Giudicessi, John R ^a,b   Ye, Dan ^a   Tester, David J ^a   Crotti, Lia ^c,d,e   Mugione, Alessandra ^e   Nesterenko, Vladislav V ^h   Albertson, Richard M ^a   Antzelevitch, Charles ^h   Schwartz, Peter J ^c,d,e,f,g   Ackerman, Michael J ^a  

^a Windland Smith Rice Sudden Death Genomics Laboratory   (United States)

^b MAYO CLINIC COLLEGE OF MEDICINE   (United States)

^c UNIVERSITY OF PAVIA   (Italy)

^d FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^e IRCCS   (Italy)

^f UNIVERSITY OF CAPE TOWN   (South Africa)

^g KING SAUD UNIVERSITY   (Saudi Arabia)

^h MASONIC MEDICAL RESEARCH LABORATORY   (United States)

Author keywords

Brugada syndrome; Genetic diseases; Ion channels; Ito current; J wave syndromes; Kv4.3 channels; Sudden cardiac death

Indexed keywords

ARGININE; GLYCINE; LYSINE; PHENYLALANINE; POTASSIUM CHANNEL KV4.3; SHAL POTASSIUM CHANNEL; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BRUGADA SYNDROME; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; GAIN OF FUNCTION MUTATION; GENE; GENE FREQUENCY; HETEROZYGOSITY; HUMAN; KCDN3 GENE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PATHOGENESIS; PHENOTYPE; POTASSIUM CURRENT; PRIORITY JOURNAL;

ACTION POTENTIALS; ADULT; ALLELES; BRUGADA SYNDROME; CELLS, CULTURED; DNA; ELECTROCARDIOGRAPHY; FEMALE; GENE FREQUENCY; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; MYOCARDIUM; PATCH-CLAMP TECHNIQUES; POLYMERASE CHAIN REACTION; SHAL POTASSIUM CHANNELS; YOUNG ADULT;

EID: 79959921753     PISSN: 15475271     EISSN: 15563871     Source Type: Journal    
DOI: 10.1016/j.hrthm.2011.02.021     Document Type: Article

References (25)

1. Zheng ZJ, Croft JB, Giles WH, Mensah GA. Sudden cardiac death in the United States, 1989 to 1998. Circulation 2001;104:2158-2163.
2. Ellsworth EG, Ackerman MJ. The changing face of sudden cardiac death in the young. Heart Rhythm 2005;2:1283-1285. (Pubitemid 43055409)
3. Wren C. Sudden death in children and adolescents. Heart 2002;88:426-431.
4. Liberthson RR. Sudden death from cardiac causes in children and young adults. N Engl J Med 1996;334:1039-1044. (Pubitemid 26124453)
5. Tester DJ, Ackerman MJ. Postmortem long QT syndrome genetic testing for sudden unexplained death in the young. J Am Coll Cardiol 2007;49:240-246. (Pubitemid 46054388)
6. Antzelevitch C, Brugada P, Borggrefe M, et al. Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association. Circulation 2005;111:659-670.
7. Chen PS, Priori SG. The Brugada syndrome. J Am Coll Cardiol 2008;51:1176-1180.
8. Kapplinger JD, Tester DJ, Alders M, et al. 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.
9. Antzelevitch C, Yan GX. J wave syndromes. Heart Rhythm 2010;7:549-558.
10. Delpon E, Cordeiro JM, Nunez L, et al. Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome. Circ Arrhythm Electrophysiol 2008;1:209-218.
11. Medeiros-Domingo A, Tan BH, Crotti L, et al. 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.
12. Ackerman MJ, Tester DJ, Jones GS, Will ML, Burrow CR, Curran ME. Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. Mayo Clin Proc 2003;78:1479-1487. (Pubitemid 37475631)
13. Rozen S, Skaletsky H. Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol 2000;132:365-386.
14. Calloe K, Cordeiro JM, Di Diego JM, et al. A transient outward potassium current activator recapitulates the electrocardiographic manifestations of Brugada syndrome. Cardiovasc Res 2009;81:686-694.
15. Dumaine R, Towbin JA, Brugada P, et al. Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. Circ Res 1999;85:803-809. (Pubitemid 29504155)
16. Gima K, Rudy Y. Ionic current basis of electrocardiographic waveforms: a model study. Circ Res 2002;90:889-896. (Pubitemid 34633881)
17. Yan GX, Antzelevitch C. Cellular basis for the electrocardiographic J wave. Circulation 1996;93:372-379.
18. Yan GX, Antzelevitch C. Cellular basis for the Brugada syndrome and other mechanisms of arrhythmogenesis associated with ST-segment elevation. Circulation 1999;100:1660-1666. (Pubitemid 29477277)
19. Fish JM, Antzelevitch C. Role of sodium and calcium channel block in unmasking the Brugada syndrome. Heart Rhythm 2004;1:210-217. (Pubitemid 38878241)
20. Kurita T, Shimizu W, Inagaki M, et al. The electrophysiologic mechanism of ST-segment elevation in Brugada syndrome. J Am Coll Cardiol 2002;40:330-334. (Pubitemid 34756296)
21. Hermida JS, Denjoy I, Clerc J, et al. Hydroquinidine therapy in Brugada syndrome. J Am Coll Cardiol 2004;43:1853-1860. (Pubitemid 38622526)
22. Greenstein JL, Wu R, Po S, Tomaselli GF, Winslow RL. Role of the calcium-independent transient outward current I(to1) in shaping action potential morphology and duration. Circ Res 2000;87:1026-1033.
23. Decker KF, Heijman J, Silva JR, Hund TJ, Rudy Y. Properties and ionic mechanisms of action potential adaptation, restitution, and accommodation in canine epicardium. Am J Physiol Heart Circ Physiol 2009;296:H1017-1026.
24. Pitzalis MV, Anaclerio M, Iacoviello M, et al. QT-interval prolongation in right precordial leads: an additional electrocardiographic hallmark of Brugada syndrome. J Am Coll Cardiol 2003;42:1632-1637. (Pubitemid 37378445)
25. Di Diego JM, Cordeiro JM, Goodrow RJ, et al. Ionic and cellular basis for the predominance of the Brugada syndrome phenotype in males. Circulation 2002; 106:2004-2011. (Pubitemid 35176309)