[Premature sudden death--consider serious familial heart rhythm disturbances]

Ned Tijdschr Geneeskd. 2011;155(39):A3391.
[Article in Dutch]

Abstract

We describe 3 patients from a region in the centre of the Netherlands with several relatives who died prematurely from sudden cardiac arrest. These premature deaths appeared to be caused by a unique familial sudden death syndrome. These patients and their relatives did not present any distinguishable signs, symptoms or abnormalities on further examinations apart from premature cardiac arrest occurring in about 50% of the affected family members before the age of 60 years. Genetic analysis appeared to be the only means to identify family members at risk, carrying lethal changes in their DNA that presumably involve the DPP6-gene. Patients who survive a premature sudden cardiac arrest and relatives of patients who died prematurely from sudden cardiac arrest should be referred to a cardiogenetics outpatient clinic. Timely recognition of persons affected allows appropriate treatment and may implicate an implantable cardioverter defibrillator.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Adult
  • Aged
  • DNA Mutational Analysis
  • Death, Sudden, Cardiac / etiology*
  • Defibrillators, Implantable
  • Dipeptidyl-Peptidases and Tripeptidyl-Peptidases / genetics*
  • Female
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Humans
  • Male
  • Nerve Tissue Proteins / genetics*
  • Potassium Channels / genetics*
  • Ventricular Fibrillation / genetics*
  • Ventricular Fibrillation / mortality
  • Ventricular Fibrillation / therapy

Substances

  • Nerve Tissue Proteins
  • Potassium Channels
  • DPP6 protein, human
  • Dipeptidyl-Peptidases and Tripeptidyl-Peptidases