ECG characteristics:

Etiology:

• Genetic defects with up to three mutations in SCN5A (sodium channel) with frequent familial occurrence of ventricular fibrillation

ECG characteristics:

• Three types of repolarisation patterns:
  
  
  
  • Type 1: “tentlike” coved ST-segment elevation displaying a “J-wave” amplitude or elevated ST-segment≥0.2 mVin V1-2 (V3), negative T wave
    
  • Type 2: “saddle back”-configuration of ST-segment elevation ≥ 0.1 mV, positive T wave
    
  • Type 3: “saddle back”-configuration of ST-segment elevation ≤ 0.1 mV, positive T wave
  
  
• exaggeration or unmasking after drug challenging (ajmaline, flecainide, procainamid)
  
• Occurrence of malignant ventricular arrhythmias (in particular ventricular fibrillation)

Treatment:

• No specific treatment of the underlying disease
  
• Debrillator insertion with malignant ventricular arrhythmias (syncope, post cardiac resuscitation)
  
• Monitoring of family members