Delpon et al. (2008) studied a Danish pedigree in which the previously asymptomatic proband had cardiac arrest at age 36 years and was resuscitated. Electrocardiogram (ECG) showed a coved-type ST segment elevation (type 1) in leads V1 and ... Delpon et al. (2008) studied a Danish pedigree in which the previously asymptomatic proband had cardiac arrest at age 36 years and was resuscitated. Electrocardiogram (ECG) showed a coved-type ST segment elevation (type 1) in leads V1 and V2 and a saddleback ST segment elevation (type 2) in V3, diagnostic of Brugada syndrome. A cardiac defibrillator was implanted (ICD) and over the next 7 years, a total of 70 appropriate ICD discharges occurred. The proband then underwent ablation of the right ventricular outflow tract and over the next 2 years, only 1 additional appropriate ICD shock was delivered. The proband's asymptomatic brother displayed a coved-type ST segment elevation in V1 and V2 on ECG and was also implanted with an ICD, which had not yet discharged at the time of the study. One of the proband's daughters and 1 of his brother's sons, who were both initially negative for signs of Brugada on examination at ages 8 and 14 years, respectively, had ST segment elevation on ECG after flecainide challenge at ages 18 and 23 years, respectively. The 23-year-old male had an ECG typical of Brugada syndrome, whereas the 18-year-old female showed a very prominent exaggeration of the R wave (J wave) in lead aVR.
In the proband of a Danish pedigree with Brugada syndrome, who was negative for mutation in the SCN5A gene (600163), Delpon et al. (2008) identified heterozygosity for a missense mutation in the KCNE3 gene (604433.0002). The mutation was ... In the proband of a Danish pedigree with Brugada syndrome, who was negative for mutation in the SCN5A gene (600163), Delpon et al. (2008) identified heterozygosity for a missense mutation in the KCNE3 gene (604433.0002). The mutation was detected in 3 more affected family members, but was not found in 3 unaffected family members, in 200 Danish control alleles, or in an additional 206 alleles of Caucasian European controls.