A 42 year old male @entity1 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 @entity714 . As a result, the diagnosis @entity1789 was established. The @entity1789 is a primary @entity299 without structural @entity299 and is associated with an increased risk of @entity1164 caused by life threatening @entity1165 . It is an @entity74 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 @entity1372 channel gene @entity1788 . The annual mortality rate is estimated 30 per 100.000 @entity1 . 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 @entity1164 . The currently suggested therapy consists of the implantation of an internal defibrillator.

[Atypical resting ecg pattern in a @entity1 with a positive family history of XXXX ]].

@entity1 :: ('9606', 'Species') :: ['patient', 'persons'] @entity1789 :: ('MESH:D053840', 'Disease') :: ['Brugada syndrome'] @entity1164 :: ('MESH:D016757', 'Disease') :: ['sudden cardiac death'] @entity1788 :: ('6331', 'Gene') :: ['SCN5A'] @entity1165 :: ('MESH:D017180', 'Disease') :: ['ventricular tachyarrhythmia'] @entity714 :: ('MESH:D002037', 'Disease') :: ['right bundle branch block'] @entity1372 :: ('MESH:D012964', 'Chemical') :: ['sodium'] @entity74 :: ('MESH:D030342', 'Disease') :: ['inherited disease'] @entity299 :: ('MESH:D006331', 'Disease') :: ['heart disease', 'cardiac conduction disturbance']
@entity1164 :: (MESH:D016757,Disease) :: ['sudden cardiac death']
