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

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

Research output: Contribution to journalArticleAcademicpeer-review

84 Citations (Scopus)


Aims: Previously published diagnostic systems, based on ECG analysis and clinical parameters (Schwartz criteria and Keating criteria), have been used to estimate the probability of inherited long QT syndrome (LQTS). Nowadays, a certain diagnosis can often be made by DNA testing. We aimed to establish the predictive power of the Schwartz and Keating criteria, using DNA testing as a reference, and to determine the best diagnostic strategy. Methods and results: We studied 513 relatives (aged >10 years) of 77 consecutive LQTS probands with a known disease-causing mutation. The Schwartz criteria identified 'high probability of LQTS' (score ≥4) in 41 of 208 mutation carriers, yielding 19% sensitivity and 99% specificity. The Keating criteria had 36% sensitivity and 99% specificity. Alternatively, by analysing QTc duration alone, we found that 430 ms is the optimal cut-off value to distinguish carriers (≥430 ms) from non-carriers (
Original languageEnglish
Pages (from-to)575-580
Number of pages6
JournalEuropean Heart Journal
Issue number5
Publication statusPublished - 1-Mar-2007


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

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