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

References

• Viskin S. Long QT syndromes and torsade de pointes. Lancet. 1999; 354: 1625–33
   PubMed Web of Science ®Google Scholar
• Priori SG, Napolitano C, Schwartz PJ. Genetics of cardiac arrhythmias. Braunwald's Heart Disease8th ed, P Libby, RO Bonow, DL Mann, DP Zipes. Saunders Elsevier, Philadelphia, PA 2008
   Google Scholar
• Schwartz PJ. The congenital long QT syndromes from genotype to phenotype: clinical implications. J Intern Med. 2006; 259: 39–47
   PubMed Web of Science ®Google Scholar
• 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.
   Google Scholar
• Wilde AA, Bezzina CR. Genetics of cardiac arrhythmias. Heart. 2005; 91: 1352–8
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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).
   Google Scholar
• 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: 1934–42
   PubMed Web of Science ®Google Scholar
• 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: 1951–7
   PubMed Web of Science ®Google Scholar
• Bazett H. An analysis of time relations of the electrocardiogram. Heart. 1920; 7: 353–70
   Google Scholar
• Sokolow M, Freidlander RD. The normal unipolar precordial and limb lead electrocardiogram. Am Heart J. 1949; 38: 665–87
   PubMed Web of Science ®Google Scholar
• 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: 1180–6
   PubMed Web of Science ®Google Scholar
• 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: 562–8
   PubMed Web of Science ®Google Scholar
• 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: 580–1
   PubMedGoogle Scholar
• 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: 1919–25
   PubMed Web of Science ®Google Scholar
• 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: 2237–44
   PubMed Web of Science ®Google Scholar
• Susmano A. Effect of heart rate and autonomic tone on the QT interval. Circulation. 1982; 66: 478
   Google Scholar
• 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: 846–52
   PubMed Web of Science ®Google Scholar
• 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: 1479–87
   PubMed Web of Science ®Google Scholar
• 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: 575–80
   Google Scholar
• 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: 603–7
   PubMed Web of Science ®Google Scholar
• 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: 1178–85
   PubMed Web of Science ®Google Scholar
• 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: 1116–22
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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: 277–84
   PubMed Web of Science ®Google Scholar
• 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: II_781
   Google Scholar
• 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: 1213–22
   PubMed Web of Science ®Google Scholar
• 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: 1128–36
   PubMed Web of Science ®Google Scholar
• 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: 644–51
   PubMed Web of Science ®Google Scholar
• 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
   PubMedGoogle Scholar
• 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: 974–9
   Google Scholar
• Roden DM. Long QT syndrome: reduced repolarization reserve and the genetic link. J Intern Med. 2006; 259: 59–69
   PubMed Web of Science ®Google Scholar
• Roden DM. Drug-induced prolongation of the QT interval. N Engl J Med. 2004; 350: 1013–22
   PubMed Web of Science ®Google Scholar
• Shimizu W. The long QT syndrome: therapeutic implications of a genetic diagnosis. Cardiovasc Res. 2005; 67: 347–56
   PubMedGoogle Scholar
• 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
   Google Scholar
• 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: 507–17
   PubMed Web of Science ®Google Scholar