Human genomics and its impact on arrhythmias

Trends in Cardiovascular Medicine

Volumn 14, Issue 3, 2004, Pages 112-116

  Roden, Dan M ^a  

^a VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARRHYTHMOGENESIS; DISEASE ASSOCIATION; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOMICS; GENOTYPE ENVIRONMENT INTERACTION; HEART ARRHYTHMIA; HEART ATRIUM FIBRILLATION; HEART MUSCLE CONTRACTILITY; HEART MUSCLE EXCITABILITY; HUMAN; PATHOPHYSIOLOGY; POPULATION GENETICS; PRIORITY JOURNAL; QT PROLONGATION; SHORT SURVEY; SUDDEN DEATH;

EID: 2342523271     PISSN: 10501738     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.tcm.2004.01.001     Document Type: Review

References (45)

1. Baroudi G., Pouliot V., Denjoy I., et al. Novel mechanism for Brugada syndrome: defective surface localization of an SCN5A mutant (R1432G). Circ Res. 88:2001;E78-E83
2. Benson D.W., Wang D.W., Dyment M., et al. Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). J Clin Invest. 112:2003;1019-1028
3. 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. 20:1992;1391-1396
4. Brugada R., Tapscott T., Czernuszewicz G.Z., et al. Identification of a genetic locus for familial atrial fibrillation. N Engl J Med. 336:1997;905-911
5. Cardiac Arrhythmia Suppression Trial Investigators Increased mortality due to encainide or flecainide in a randomized trial of arrhythmia suppression after myocardial infarction. N Engl J Med. 321:1989;406-412
6. Chen Q.Y., Kirsch G.E., Zhang D.M., et al. Genetic basis and molecular mechanism for idiopathic-ventricular fibrillation. Nature. 392:1998;293-296
7. Chen Y.H., Xu S.J., Bendahhou S., et al. KCNQ1 gain-of-function mutation in familial atrial fibrillation. Science. 299:2003;251-254
8. Clayton E.W. Ethical, legal, and social implications of genomic medicine. N Engl J Med. 349:2003;562-569
9. Darbar D., Herron K.J., Ballew J.D., et al. Familial atrial fibrillation is a genetically heterogeneous disorder. J Am Coll Cardiol. 41:2003;2185-2192
10. Donger C., Denjoy I., Berthet M., et al. KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome. Circulation. 96:1997;2778-2781
11. Ellinor P.T., Shin J.T., Moore R.K., et al. Locus for atrial fibrillation maps to chromosome 6q14-16. Circulation. 107:2003;2880-2883
12. Friedlander Y., Siscovick D.S., Weinmann S., et al. Family history as a risk factor for primary cardiac arrest. Circulation. 97:1998;155-160
13. Gaita F., Giustetto C., Bianchi F., et al. Short QT syndrome: a familial cause of sudden death. Circulation. 108:2003;965-970
14. Gollob M.H., Green M.S., Tang A.S., et al. Identification of a gene responsible for familial Wolff-Parkinson-White syndrome. N Engl J Med. 344:2001;1823-1831
15. Groenewegen W.A., Firouzi M., Bezzina C.R., et al. A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill. Circ Res. 92:2003;14-22
16. Hoorntje T., Alders M., van Tintelen P., et al. Homozygous premature truncation of the HERG protein: the human HERG knockout. Circulation. 100:1999;1264-1267
17. Ioannidis J.P., Ntzani E.E., Trikalinos T.A., et al. Replication validity of genetic association studies. Nat Genet. 29:2001;306-309
18. Johnson W.H. Jr., Yang P., Yang T., et al. Clinical, genetic, and biophysical characterization of a homozygous HERG mutation causing severe neonatal long QT syndrome. Pediatr Res. 53:2003;744-748
19. Jouven X., Desnos M., Guerot C., et al. Predicting sudden death in the population: the Paris Prospective Study I. Circulation. 99:1999;1978-1983
20. Keating M.T., Sanguinetti M.C. Molecular and cellular mechanisms of cardiac arrhythmias. Cell. 104:2001;569-580
21. Krishnan S.C., Antzelevitch C. Flecainide-induced arrhythmia in canine ventricular epicardium. Phase 2 reentry? Circulation. 87:1993;562-572
22. 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. 104:2001;3081-3086
23. Lahat H., Pras E., Olender T., et al. A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel. Am J Hum Genet. 69:2001;1378-1384
24. Lukas A., Antzelevitch C. Differences in the electrophysiological response of canine ventricular epicardium and endocardium to ischemia. Role of the transient outward current. Circulation. 88:1993;2903-2915
25. Lupoglazoff J.M., Cheav T., Baroudi G., et al. Homozygous SCN5A mutation in long-QT syndrome with functional two-to-one atrioventricular block. Circ Res. 89:2001;E16-E21
26. Makielski J.C., Ye B., Valdivia C.R., et al. A Ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels. Circ Res. 93:2003;821-828
27. Morita H., Kusano-Fukushima K., Nagase S., et al. Atrial fibrillation and atrial vulnerability in patients with Brugada syndrome. J Am Coll Cardiol. 40:2002;1437-1444
28. Napolitano C., Schwartz P.J., Brown A.M., et al. Evidence for a cardiac ion channel mutation underlying drug-induced QT prolongation and life-threatening arrhythmias. J Cardiovasc Electrophysiol. 11:2000;691-696
29. Neyroud N., Tesson F., Denjoy I., et al. A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nat Genet. 15:1997;186-189
30. Priori S.G., Napolitano C., Schwartz P.J. Low penetrance in the long-QT syndrome: clinical impact. Circulation. 99:1999;529-533
31. Priori S.G., Napolitano C., Tiso N., et al. Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation. 103:2001;196-200
32. Roden D.M. Taking the idio out of idiosyncratic - predicting Torsades de Pointes. Pacing Clin Electrophysiol. 21:1998;1029-1034
33. Schulze-Bahr E., Wang Q., Wedekind H., et al. KCNE1 mutations cause Jervell and Lange-Nielsen syndrome. Nat Genet. 17:1997;267-268
34. Schwartz P.J., Priori S.G., Spazzolini C., et al. Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation. 103:2001;89-95
35. Sesti F., Abbott G.W., Wei J., et al. A common polymorphism associated with antibiotic-induced cardiac arrhythmia. Proc Natl Acad Sci USA. 97:2000;10, 613-10, 618
36. Shimizu W., Noda T., Takaki H., et al. Epinephrine unmasks latent mutation carriers with LQT1 form of congenital long-QT syndrome. J Am Coll Cardiol. 41:2003;633-642
37. Splawski I., Timothy K.W., Vincent G.M., et al. Molecular basis of the long QT syndrome associated with deafness. N Engl J Med. 336:1997;1562-1567
38. Splawski I., Timothy K.W., Tateyama M., et al. Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia. Science. 297:2002;1333-1336
39. Spooner P.M., Albert C., Benjamin E.J., et al. Sudden cardiac death, genes, and arrhythmogenesis: consideration of new population and mechanistic approaches from a National Heart Lung and Blood Institute workshop, part I. Circulation. 103:2001;2361-2364
40. Valdivia C.R., Ackerman M.J., Tester D.J., et al. A novel SCN5A arrhythmia mutation, M1766L, with expression defect rescued by mexiletine. Cardiovasc Res. 55:2002;279-289
41. Viswanathan P.C., Benson D.W., Balser J.R. A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation. J Clin Invest. 111:2003;341-346
42. Wang D.W., Makita N., Kitabatake A., et al. Enhanced Na(+) channel intermediate inactivation in Brugada syndrome. Circ Res. 87:2000;E37-E43
43. Wang Q., Curran M.E., Splawski I., et al. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat Genet. 12:1996;17-23
44. Wei J., Yang I.C., Tapper A.R., et al. KCNE1 polymorphism confers risk of drug-induced long QT syndrome by altering kinetic properties of IKs potassium channels. Circulation. 1999;I-495
45. Yang P., Kanki H., Drolet B., et al. Allelic variants in Long QT disease genes in patients with drug-associated Torsades de Pointes. Circulation. 105:2002;1943-1948