Ueda et al. (2009) studied a 41-year-old man who had recurrent episodes of syncope at rest and whose electrocardiogram (ECG) showed saddle-back ST segment elevation in leads V1 and V2, incomplete right bundle branch block, and QT intervals ... Ueda et al. (2009) studied a 41-year-old man who had recurrent episodes of syncope at rest and whose electrocardiogram (ECG) showed saddle-back ST segment elevation in leads V1 and V2, incomplete right bundle branch block, and QT intervals at the upper limit of normal. A 24-hour ECG revealed polymorphic ventricular tachycardia during sleep, and electrophysiologic study showed that ventricular fibrillation was reproducibly induced by programmed ventricular stimulation without drug provocation. The patient was diagnosed with Brugada syndrome, and an internal cardioverter defibrillator (ICD) was implanted. There was no family history of sudden cardiac death.
In a 41-year-old man with Brugada syndrome who was negative for mutation in the SCN5A gene (600163), Ueda et al. (2009) identified heterozygosity for a splice site mutation in the HCN4 gene (605206.0005) that was not found in ... In a 41-year-old man with Brugada syndrome who was negative for mutation in the SCN5A gene (600163), Ueda et al. (2009) identified heterozygosity for a splice site mutation in the HCN4 gene (605206.0005) that was not found in 190 healthy controls.