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Cardiogenetic screening of first-degree relatives after sudden cardiac death in the young: a population-based

Anneke Hendrix1, C Jan Willem Borleffs, Aryan Vink

  • 1Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht, the Netherlands. a.hendrix@umcutrecht.nl

Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology
|January 14, 2011
PubMed

Insights

Cardiogenetic screening of relatives of sudden cardiac death (SCD) and sudden unexplained death (SUD) victims yielded a 14% diagnosis rate for inherited heart conditions. This highlights a need for systematic screening approaches in population-based settings.

Area of Science:

  • Cardiology
  • Genetics
  • Public Health

Background:

  • Sudden cardiac death (SCD) and sudden unexplained death (SUD) in young individuals often have genetic underpinnings.
  • Family screening is crucial for identifying inherited cardiac conditions and preventing future events.
  • Current population-based screening practices for relatives of SCD/SUD victims may be suboptimal.

Purpose of the Study:

  • To evaluate the diagnostic yield of cardiogenetic screening in first-degree relatives of young SCD/SUD victims.
  • To assess the effectiveness of a population-based approach to family screening after sudden cardiac events.

Main Methods:

  • A population-based study reviewed SCD/SUD cases (ages 1-40) from 2000-2006.
  • Autopsy and cardiogenetic screening data for victims and their first-degree relatives were collected.
  • Relatives without prior screening were invited for additional cardiogenetic evaluation.

Main Results:

  • The study identified 16 SCD/SUD cases and 4 aborted SCD/SUD cases.
  • Common causes included myocardial infarction, arrhythmogenic right ventricular cardiomyopathy (ARVC), and hypertrophic cardiomyopathy.
  • Screening 37 relatives of 12 victims identified Brugada syndrome in 3 and suspected ARVC in 2, yielding a 14% detection rate.

Conclusions:

  • A significant proportion of relatives of SCD/SUD victims are not referred for cardiogenetic screening.
  • Systematic screening approaches are needed to improve the detection of inherited cardiac diseases.
  • The yield of cardiogenetic screening in this population, while substantial, was lower than anticipated.
Abstract

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