Hu et al. (2009) studied an asymptomatic 64-year-old Caucasian man of German, Swedish, and Native American ancestry who presented with a resting electrocardiogram (ECG) showing slight ST segment elevation and negative T waves in V1, which was suggestive ... Hu et al. (2009) studied an asymptomatic 64-year-old Caucasian man of German, Swedish, and Native American ancestry who presented with a resting electrocardiogram (ECG) showing slight ST segment elevation and negative T waves in V1, which was suggestive of Brugada syndrome. Type 1 ST segment elevation, diagnostic of Brugada syndrome, was unmasked in leads V1 and V2 after sodium channel blockade with procainamide. An internal cardioverter defibrillator (ICD) was implanted; interrogation of the ICD 3 years later revealed an episode of atrial flutter with 2:1 atrioventricular block. Family history was negative for sudden cardiac death, although the proband had 2 paternal aunts and 3 paternal uncles who all died of lung cancer.
In a 64-year-old man with Brugada syndrome, who was negative for mutation in 9 'Brugada-susceptibility' genes, Hu et al. (2009) identified heterozygosity for a missense mutation in the SCN3B gene (608214.0001). The mutation was not found in the ... In a 64-year-old man with Brugada syndrome, who was negative for mutation in 9 'Brugada-susceptibility' genes, Hu et al. (2009) identified heterozygosity for a missense mutation in the SCN3B gene (608214.0001). The mutation was not found in the proband's unaffected brother or in 360 Caucasian, 120 Turkish, and 112 Sephardic Jewish reference alleles.