Diagnostic criteria for congenital long QT syndrome in the era of molecular genetics: Do we need a scoring system?

European Heart Journal

Volumn 28, Issue 5, 2007, Pages 575-580

  Hofman, Nynke ^a   Wilde, Arthur A M ^a   Kääb, Stefan ^b   Van Langen, Irene M ^a   Tanck, Michael W T ^a   Mannens, Marcel M A M ^a   Hinterseer, Martin ^b   Beckmann, Britt Maria ^b   Tan, Hanno L ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

Author keywords

Diagnostic criteria; Long QT syndrome; Molecular genetics; Ventricular arrhythmias

Indexed keywords

DNA;

ADULT; AREA UNDER THE CURVE; ARTICLE; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DIAGNOSTIC TEST; DIAGNOSTIC VALUE; DNA DETERMINATION; FEMALE; GENE MUTATION; GENETIC SCREENING; GENOTYPE; HETEROZYGOTE; HUMAN; INTERMETHOD COMPARISON; LONG QT SYNDROME; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; PREDICTION; PRIORITY JOURNAL; PROBABILITY; QT INTERVAL; RELATIVE; SCORING SYSTEM; SENSITIVITY AND SPECIFICITY;

ADOLESCENT; ADULT; AGED; CHILD; ELECTROCARDIOGRAPHY; FEMALE; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMANS; LONG QT SYNDROME; MALE; MIDDLE AGED; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION; SENSITIVITY AND SPECIFICITY;

EID: 34548383412     PISSN: 0195668X     EISSN: 15229645     Source Type: Journal    
DOI: 10.1093/eurheartj/ehl355     Document Type: Article

References (18)

1. Crotti L, Stramba-Badiali M, Ferrandi C. Prevalence of the long QT syndrome. Circulation 2005;112(Suppl. II):II-660.
2. Jervell A, Lange-Nielsen F. Congenital deafmutism, functional heart disease with prolongation of the QT interval, and sudden death. Am Heart J 1957;54:59-68.
3. Schwartz PJ, Spazzolini C, Crotti L, Bathen J, Amlie JP, Timothy K, Shkolnikova M, Berul CI, Bitner-Glindzicz M, Toivonen L, Horie M, Schulze-Bahr E, Denjoy I. The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome. Circulation 2006;113:783-790.
4. Wilde AAM, Bezzina CR. Genetics in cardiac arrhythmias. Heart 2005;91:1352-1358.
5. Shimizu W. The long QT syndrome: therapeutic implications of a genetic diagnosis. Cardiovasc Res 2005;67:347-356.
6. Schwartz PJ. Idiopathic long QT syndrome: progress and questions. Am Heart J 1985;2:399-411.
7. Schwartz PJ, Moss AJ, Michael Vincent GM, Crampton RS. Diagnostic criteria for the long QT syndrome - an update. Circulation 1993;88:782-784.
8. Zareba W, Moss AJ, Schwartz PJ, Vincent GM, Robinson JL, Priori SG, Benhorin J, Locati EH, Towbin JA, Keating MT, Lehmann MH, Hall WJ. Influence of genotype on the clinical course of the long-QT syndrome. International Long-QT Syndrome Registry Research Group. N Engl J Med 1998;339:960-965.
9. Keating M, Atkinson D, Dunn C, Timothy K, Vincent GM, Leppert M. Linkage of a cardiac arrhythmia, the long QT syndrome, and the Harvey ras-1 gene. Science 1991;252:704-706.
10. Wernicke JF, Faries D, Breitung R, Girod D. QT correction methods in children and adolescents. J Cardiovasc Electrophysiol 2005;16:76-81.
11. Rautaharju PM, Zhou SH, Wong S, Calhoun HP, Berenson GS, Prineas R, Davignon A. Sex differences in the evolution of the electrocardiographic QT interval with age. Can J Cardiol 1992;8:690-695.
12. Malfatto G, Beria G, Sala S, Bonazzi O, Schwartz PJ. Quantitative analysis of T wave abnormalities and their prognostic implications in the idiopathic long QT syndrome. J Am Coll Cardiol 1994;23:296-301.
13. 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.
14. Priori SG, Napolitano C, Schwartz PJ. Low penetrance in the long-QT syndrome; clinical impact. Circulation 1999;99:529-533.
15. Napolitano C, Priori SG, Schwartz PJ, Bloise R, Ronchetti E, Nastoli J, Bottelli G, Cerrone M, Leonardi S. Genetic testing in the long QT syndrome; development and validation of an efficient approach to genotyping in clinical practice. JAMA 2005;294:2975-2980.
16. van Langen IM, Hofman N, Tan HL, Wilde AA. Family and population strategies for screening and counselling of inherited cardiac arrhythmias. Ann Med 2004;36(Suppl. 1):116-124.
17. Hofman N, van Langen IM, Tan HL, Mannens MM, Wilde AA. The yield of molecular genetic testing in primary electrical heart disease. Circulation 2004;110(Suppl. III):III-693.
18. van Langen IM, Birnie E, Alders M, Jongbloed RJ, Le Marec H, Wilde AA. The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome. J Med Genet 2003;40:141-145.