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Related Experiment Videos

Polymorphic ventricular tachycardia and KCNJ2 mutations.

Terrence U H Chun1, Michael R Epstein, Macdonald Dick

  • 1Division of Cardiology, Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio, USA.

Heart Rhythm
|April 27, 2005
PubMed
Summary
This summary is machine-generated.

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Heterozygous KCNJ2 mutations can cause life-threatening polymorphic ventricular tachycardia (PVT) in adolescents. Rapid ventricular tachycardia, not PVT, caused cardiac arrest, and implantable cardioverter-defibrillators (ICDs) effectively treated these events.

Area of Science:

  • Cardiology
  • Genetics
  • Electrophysiology

Background:

  • Polymorphic ventricular tachycardia (PVT) in young patients with KCNJ2 mutations can be life-threatening.
  • The specific electrophysiologic basis for severe events in this context is not well understood.
  • KCNJ2 mutations are linked to cardiac channelopathies affecting potassium channels.

Purpose of the Study:

  • To investigate the electrophysiologic underpinnings of life-threatening events in adolescents with PVT and heterozygous KCNJ2 mutations.
  • To characterize the functional consequences of identified KCNJ2 mutations.
  • To determine the effective treatment for cardiac arrest in these patients.

Main Methods:

  • Identified heterozygous KCNJ2 mutations (R67W, C101R) in two adolescent patients with PVT.

Related Experiment Videos

  • Performed biophysical characterization of wild-type and mutant KCNJ2 channels via heterologous expression in Xenopus oocytes.
  • Analyzed implantable cardioverter-defibrillator (ICD) data for patients experiencing syncopal episodes or cardiac arrest.

    • Main Results:

    • Neither patient experienced symptoms during documented PVT, despite a significant tachycardia burden.
    • One patient's cardiac arrest was linked to rapid ventricular tachycardia (190-270 ms cycle length), not PVT.
    • Biophysical studies revealed KCNJ2-C101R exhibits loss-of-function and dominant-negative effects, similar to KCNJ2-R67W.
    • ICD therapy effectively terminated the rapid ventricular tachycardia causing syncope in one patient.

    Conclusions:

    • Heterozygous KCNJ2 mutations can precipitate life-threatening ventricular arrhythmias.
    • Rapid ventricular tachycardia, rather than PVT, was the arrhythmia associated with cardiac arrest in this case series.
    • Implantable cardioverter-defibrillators represent an effective therapeutic strategy for managing cardiac arrest in patients with KCNJ2-related PVT.