Thematic area 1: Familial Electrical Diseases in Adults and Children

Abnormal heart rhythms (arrhythmias) are caused by aberrant electrical activity in the heart. The heart rate may be too slow or too fast; it may stay steady or become chaotic (irregular and disorganized). Some arrhythmias are life threatening and cause sudden cardiac death, while others are not. Yet they may be bothersome and give rise to significant morbidity. Within this ERN the familial forms, all rare, are covered. Genetic causes are known to a great extend but the best treatment options for affected families are generally ill defined. Some of them introduce risks for the patients and require lifelong close followup. Presymptomatic counselling and timely treatment of asymptomatic individuals is important to prevent lethal events.

For the scope of ERN GUARD-HEART, the following familial electrical diseases are included:

• Long QT syndrome
• Short QT syndrome
• Brugada syndrome
• Catecholaminergic polymorphic ventricular tachycardia
• Idiopathic ventricular fibrillation

 

This thematic area is led bij Dr. Elena Arbelo, cardiologist at Hospital Clínic of Barcelona. Coordinator of Quality at the Cardiovascular Institute. Associate professor of Universitat de Barcelona and recognised researcher of Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS).