T-wave morphology after epinephrine bolus may reveal silent long QT syndrome mutation carriers

J Electrocardiol. 2012 Jul-Aug;45(4):368-372. doi: 10.1016/j.jelectrocard.2012.04.007. Epub 2012 May 4.

Abstract

Background: Long QT syndrome (LQTS) gene mutation carriers with indeterminate electrocardiogram frequently escape clinical diagnosis. We assessed the use of epinephrine bolus injection in revealing T-wave abnormalities.

Methods: We recruited 30 genotyped asymptomatic LQTS gene carriers with nondiagnostic QT interval and 15 controls. Electrocardiogram was recorded with body surface potential mapping after an intravenous epinephrine bolus. T-wave morphology was determined as normal, biphasic, inverted, bifid, or combined pattern.

Results: Long QT syndrome carriers and healthy controls had different T-wave profiles (P = .027). Of controls, 12 (80%) of 15 had no change or biphasic appearance, whereas only 10 (33%) of 30 of LQTS carriers had so. Bifid or combined pattern occurred in 15 (50%) of 30 in LQTS and in 6 (60%) of 10 in the LQT3 subgroup but only in 1 (7%) of 15 of healthy.

Conclusions: Modification of ventricular repolarization with low-dose epinephrine injection helps to distinguish silent LQTS mutation carriers. This concerns also the LQT3 subtype, which may escape tests.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Asymptomatic Diseases
  • Body Surface Potential Mapping*
  • ERG1 Potassium Channel
  • Epinephrine* / administration & dosage
  • Ether-A-Go-Go Potassium Channels / genetics*
  • Female
  • Genetic Carrier Screening*
  • Genotype
  • Heart Rate / drug effects
  • Humans
  • Injections, Intravenous
  • KCNQ1 Potassium Channel / genetics*
  • Long QT Syndrome / classification
  • Long QT Syndrome / diagnosis*
  • Long QT Syndrome / genetics*
  • Male
  • Mutation*
  • NAV1.5 Voltage-Gated Sodium Channel
  • Sodium Channels / genetics*

Substances

  • ERG1 Potassium Channel
  • Ether-A-Go-Go Potassium Channels
  • KCNQ1 Potassium Channel
  • NAV1.5 Voltage-Gated Sodium Channel
  • SCN5A protein, human
  • Sodium Channels
  • Epinephrine