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Heritability of early repolarization: a population-based study.

Wibke Reinhard1, Bernhard M Kaess, Radoslaw Debiec

  • 1Clinic and Policlinic for Internal Medicine II, University Hospital Regensburg, Germany.

Circulation. Cardiovascular Genetics
|February 2, 2011
PubMed
Summary

Early repolarization (ER) is a heritable cardiac condition. Offspring of parents with ER have a significantly increased risk of developing this ECG finding.

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Area of Science:

  • Cardiology
  • Genetics
  • Electrocardiography

Background:

  • Early repolarization (ER), characterized by J-point elevation on ECG, is linked to increased risk of ventricular fibrillation and cardiovascular mortality.
  • The underlying causes and genetic basis of ER remain largely unknown.

Purpose of the Study:

  • To investigate the heritability of early repolarization (ER) in a large, family-based cohort.
  • To determine if ER is a heritable trait and assess familial aggregation.

Main Methods:

  • Evaluated 12-lead ECGs from 1877 individuals across 505 white nuclear families.
  • Defined ER by J-point elevation (≥0.1 mV) in adjacent inferior or anterolateral leads.
  • Calculated narrow-sense heritability estimates, adjusting for age and sex.

Main Results:

  • The prevalence of ER was 7.7% in the cohort.
  • Heritability estimate for ER presence was h(2)=0.49 (P=2.7*10(-4)), with higher estimates for inferior leads (h(2)=0.61) and notching morphology (h(2)=0.81).
  • Individuals with an affected parent had a 2.5-fold increased risk of ER (OR=2.54, P=0.005).

Conclusions:

  • Early repolarization (ER) is a heritable cardiovascular phenotype.
  • Familial aggregation of ER suggests a significant genetic component.
  • Offspring of ER-positive parents exhibit a 2.5-fold higher risk of presenting with ER on their ECG.