[Atypical resting ecg pattern in a patient with a positive family history of sudden cardiac death]].

A 42 year old male patient presented with atypical ECG pattern at rest and reported that his brother died suddenly of unknown reasons at the age of 40. A performed pharmacological testing with ajmalin discovered strong ST-segment elevations in lead V(1) and V(2) in combination with an incomplete right bundle branch block. As a result, the diagnosis Brugada syndrome was established. The Brugada syndrome is a primary cardiac conduction disturbance without structural heart disease and is associated with an increased risk of sudden cardiac death caused by life threatening ventricular tachyarrhythmia. It is an inherited disease displaying an autosomal dominant mode of transmission with an incomplete penetrance, especially prevalent in females. In some regions like the southeast of Asia and Japan it is endemic. The mutation is linked to the sodium channel gene SCN5A. The annual mortality rate is estimated 30 per 100.000 persons. Today, exact diagnostic criteria do not exist. The diagnosis is based on the typical ECG pattern, combined with clinical symptoms, and a family history of sudden cardiac death. The currently suggested therapy consists of the implantation of an internal defibrillator.