High prevalence of four long QT syndrome founder mutations in the finnish population

Annals of Medicine

Volumn 41, Issue 3, 2009, Pages 234-240

  Marjamaa, Annukka ^a   Salomaa, Veikko ^b   Newton Cheh, Christopher ^c,d   Porthan, Kimmo ^a   Reunanen, Antti ^b   Karanko, Hannu ^b   Jula, Antti ^b   Lahermo, Päivi ^a   Väänänen, Heikki ^e   Toivonen, Lauri ^a   Swan, Heikki ^a   Viitasalo, Matti ^a   Nieminen, Markku S ^a   Peltonen, Leena ^b,f   Oikarinen, Lasse ^a   Palotie, Aarno ^a,f   Kontula, Kimmo ^a  

^a UNIVERSITY OF HELSINKI   (Finland)

^b NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^c BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^d MASSACHUSETTS GENERAL HOSPITAL   (United States)

^e AALTO UNIVERSITY   (Finland)

^f WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

Author keywords

Epidemiology; Ion channels; KCNH2; KCNQ1; Long QT syndrome; QT interval

Indexed keywords

POTASSIUM CHANNEL KCNQ1; ERG1 POTASSIUM CHANNEL; KCNQ1 PROTEIN, HUMAN; POTASSIUM CHANNEL HERG;

ADULT; ARTICLE; CLINICAL ARTICLE; ELECTROCARDIOGRAM; FEMALE; FINLAND; GENE; GENE MUTATION; GENOTYPE; HEALTH SURVEY; HUMAN; KCNH2 GENE; LONG QT SYNDROME; MALE; MATRIX ASSISTED LASER DESORPTION IONIZATION TIME OF FLIGHT MASS SPECTROMETRY; POPULATION RESEARCH; PREVALENCE; PRIORITY JOURNAL; QT INTERVAL; COHORT ANALYSIS; CROSS-SECTIONAL STUDY; ELECTROCARDIOGRAPHY; FOUNDER EFFECT; GENETIC SCREENING; GENETICS; MASS SPECTROMETRY; MIDDLE AGED; MUTATION; PHENOTYPE; SEX DIFFERENCE;

COHORT STUDIES; CROSS-SECTIONAL STUDIES; ELECTROCARDIOGRAPHY; ETHER-A-GO-GO POTASSIUM CHANNELS; FEMALE; FINLAND; FOUNDER EFFECT; GENETIC SCREENING; HUMANS; KCNQ1 POTASSIUM CHANNEL; LONG QT SYNDROME; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; SEX FACTORS; SPECTROMETRY, MASS, MATRIX-ASSISTED LASER DESORPTION-IONIZATION;

EID: 67650351374     PISSN: 07853890     EISSN: 13652060     Source Type: Journal    
DOI: 10.1080/07853890802668530     Document Type: Article

References (36)

1. Viskin S. Long QT syndromes and torsade de pointes. Lancet. 1999;354:1625-1633.
2. Priori SG, Napolitano C, Schwartz PJ. Genetics of cardiac arrhythmias. In: Libby P, Bonow RO, Mann DL, Zipes DP, editors. Braunwald's Heart Disease, 8th ed. Philadelphia, PA: Saunders Elsevier, 2008.
3. Schwartz PJ. The congenital long QT syndromes from genotype to phenotype: clinical implications. J Intern Med. 2006;259:39-47.
4. Stramba-Badiale M, Crotti L, Goulene K, Pedrazzini M, Mannarino S, Salice P, et al. Electrocardiographic and genetic screening for long QT syndrome: results from a prospective study on 44,596 neonates. Circulation. 2007;116 Supplement:II-377.
5. Wilde AA, Bezzina CR. Genetics of cardiac arrhythmias. Heart. 2005;91:1352-1358.
6. Fodstad H, Swan H, Laitinen P, Piippo K, Paavonen K, Viitasalo M, et al. Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland. Ann Med. 2004;36:53-63.
7. Aromaa A, Koskinen S. Health and functional capacity in Finland. Baseline Results of the Health 2000 Health Examination Survey. Publications of the National Public Health Institute B12/2004. Helsinki 2004. Available at www. terveys2000.fi/julkaisut/baseline.pdf (accessed 1 August, 2007).
8. Oikarinen L, Paavola M, Montonen J, Viitasalo M, Makijarvi M, Toivonen L, et al. Magnetocardiographic QT interval dispersion in postmyocardial infarction patients with sustained ventricular tachycardia: validation of automated QT measurements. Pacing Clin Electrophysiol. 1998;21:1934-1942.
9. Porthan K, Virolainen J, Hiltunen TP, Viitasalo M, Vaananen H, Dabek J, et al. Relationship of electrocardiographic repolarization measures to echocardiographic left ventricular mass in men with hypertension. J Hypertens. 2007;25: 1951-1957.
10. Bazett H. An analysis of time relations of the electrocardiogram. Heart. 1920;7:353-370.
11. Sokolow M, Freidlander RD. The normal unipolar precordial and limb lead electrocardiogram. Am Heart J. 1949;38:665-687.
12. Molloy TJ, Okin PM, Devereux RB, Kligfield P. Electrocardiographic detection of left ventricular hypertrophy by the simple QRS voltage-duration product. J Am Coll Cardiol. 1992;20:1180-1186.
13. Piippo K, Swan H, Pasternack M, Chapman H, Paavonen K, Viitasalo M, et al. A founder mutation of the potassium channel KCNQ1 in long QT syndrome: implications for estimation of disease prevalence and molecular diagnostics. J Am Coll Cardiol. 2001;37:562-568.
14. Laitinen P, Fodstad H, Piippo K, Swan H, Toivonen L, Viitasalo M, et al. Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects. Hum Mutat. 2000;15:580-581.
15. Piippo K, Laitinen P, Swan H, Toivonen L, Viitasalo M, Pasternack M, et al. Homozygosity for a HERG potassium channel mutation causes a severe form of long QT syndrome: identification of an apparent founder mutation in the Finns. J Am Coll Cardiol. 2000;35:1919-1925.
16. Locati EH, Zareba W, Moss AJ, Schwartz PJ, Vincent GM, Lehmann MH, et al. Age- and sex-related differences in clinical manifestations in patients with congenital long-QT syndrome: findings from the International LQTS Registry. Circulation. 1998;97:2237-2244.
17. Susmano A. Effect of heart rate and autonomic tone on the QT interval. Circulation. 1982;66:478.
18. Vincent GM, Timothy KW, Leppert M, Keating M. The spectrum of symptoms and QT intervals in carriers of the gene for the long-QT syndrome. N Engl J Med. 1992;327:846-852.
19. 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.
20. Hofman N, Wilde AA, Kaab S, van Langen IM, Tanck MW, Mannens MM, et al. Diagnostic criteria for congenital long QT syndrome in the era of molecular genetics: do we need a scoring system? Eur Heart J. 2007;28:575-580. (Pubitemid 47355496)
21. Lehtonen A, Fodstad H, Laitinen-Forsblom P, Toivonen L, Kontula K, Swan H. Further evidence of inherited long QT syndrome gene mutations in antiarrhythmic drug-associated torsades de pointes. Heart Rhythm. 2007;4:603-607.
22. Splawski I, Shen J, Timothy KW, Lehmann MH, Priori S, Robinson JL, et al. Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000;102:1178-1185.
23. Mank-Seymour AR, Richmond JL, Wood LS, Reynolds JM, Fan YT, Warnes GR, et al. Association of torsades de pointes with novel and known single nucleotide polymorphisms in long QT syndrome genes. Am Heart J. 2006;152:1116-1122.
24. Fodstad H, Bendahhou S, Rougier JS, Laitinen-Forsblom PJ, Barhanin J, Abriel H, et al. Molecular characterization of two founder mutations causing long QT syndrome and identification of compound heterozygous patients. Ann Med. 2006;38:294-304.
25. Newton-Cheh C, Larson MG, Corey DC, Benjamin EJ, Herbert AG, Levy D, et al. QT interval is a heritable quantitative trait with evidence of linkage to chromosome 3 in a genome-wide linkage analysis: The Framingham Heart Study. Heart Rhythm. 2005;2:277-284.
26. Akylbekova EL, Crow RS, Johnson WD, Buxbaum SG, Njemanze S, Fox E, et al. Clinical correlates and heritability of QT interval duration in African Americans: the Jackson Heart Study. Circulation. 2007;116:II781.
27. Gouas L, Nicaud V, Berthet M, Forhan A, Tiret L, Balkau B, et al. Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population. Eur J Hum Genet. 2005;13:1213-1222.
28. Newton-Cheh C, Guo CY, Larson MG, Musone SL, Surti A, Camargo AL, et al. Common genetic variation in KCNH2 is associated with QT interval duration: the Framingham Heart Study. Circulation. 2007;116:1128-1136.
29. Arking DE, Pfeufer A, Post W, Kao WH, Newton-Cheh C, Ikeda M, et al. A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization. Nat Genet. 2006;38:644-651.
30. Aarnoudse AJ, Newton-Cheh C, de Bakker PI, Straus SM, Kors JA, Hofman A, et al. Common NOS1AP variants are associated with a prolonged QTc interval in the Rotterdam Study. Circulation. 2007;116:10-16.
31. Gouas L, Nicaud V, Chaouch S, Berthet M, Forhan A, Tichet J, et al. Confirmation of associations between ion channel gene SNPs and QTc interval duration in healthy subjects. Eur J Hum Genet. 2007;15:974-979.
32. Roden DM. Long QT syndrome: reduced repolarization reserve and the genetic link. J Intern Med. 2006;259:59-69.
33. Roden DM. Drug-induced prolongation of the QT interval. N Engl J Med. 2004;350:1013-1022.
34. Shimizu W The long QT syndrome: therapeutic implications of a genetic diagnosis. Cardiovasc Res. 2005;67:347-356.
35. Hofman N, Wilde AA, Tan HL. Diagnostic criteria for congenital long QT syndrome in the era of molecular genetics: do we need a scoring system? Eur Heart J. 2007;28:1399. (Pubitemid 47355987)
36. Tester DJ, Will ML, Haglund CM, Ackerman MJ. Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005;2:507-517pp