Abstract 20987: Early Repolarization Syndrome: Autosomal Dominant Malignant Form in Large French Families
Introduction: Early repolarization affects about 5 % of the general population. It has been linked with 31% of idiopathic ventricular fibrillation cases without any exam to stratify risk. A familial history of sudden cardiac death (SCD) is not rare but the mode of transmission remains unknown and no familial mutation has been identified.
Methods: Patients were considered to be affected by the early repolarization syndrome (ERS) in the presence of a distinct J-wave, defined as a positive deflection on the S wave in two consecutive leads and at least a 1 mm amplitude above baseline. Aborted SCD was explored by heart imaging and toxicological test. We consider cases of SCD as ERS if no ECG is available.
Results: We have identified 3 large families in which respectively 11, 4 and 4 SCD occurred. In the first family, 7 out of 11 SCD occurred before age 35. The ECG of one patient who experienced aborted SCD and finally died during an electrical storm 10 years later, showed a typical aspect of ERS. An ECG was available in 15 members of the family and revealed a typical aspect of ERS in 2 and a minor form in 11. In the second family, 4 patients died of SCD including one aborted SCD with an ERS pattern. 27 other patients out of 49 had an ERS pattern. In the third family, the proband experienced aborted SCD before dying of an electrical storm, and had a typical aspect of ERS on the ECG. 3 other patients died of SCD. 20 other patients out of 30 had an ERS pattern. In this families, the ERS is transmitted with an autosomal dominant trait.
Conclusions: Malignant forms of ERS can be transmitted with an autosomal dominant mode. The identification of 3 ERS families is the first step towards the identification of underlying genetic causes.
- © 2010 by American Heart Association, Inc.