Hereditary cardiac electrical disorders are called “rare illnesses”, caused by a genetic dysfunction of the cardiac ion channels, which brings patients with a lack of structural heart disease to an increase of the risk of cardiac electrical disorders and sudden cardiac death.

The scope of cardiac electrical disorders is very heterogeneous and includes: Brugada Syndrome, long QT, short QT, catecholaminergic polymorphic ventricular tachycardia (CPVT), early repolarization Syndrome (ER), familiar progressive cardiac conduction defect (PCCD) and congenital atrioventricular block (CAVB). To be able to treat Swiss Italian patients with a detailed diagnosis program and at the same time to offer a screening program for families with a history of sudden cardiac death, Istituto Cardiocentro Ticino has created a unit of rare illnesses specifically dedicated to these patients, which provides electrophysiology at rest and stress monitoring, specific pharmacological tests, electrophysiology studies for risk stratification for arrhythmic events with high-resolution mapping systems, installation of continuous electrocardiographic monitoring systems, and diversified drug treatment strategies, or through invasive techniques of ablation and/or implantation of transvenous automatic implantable cardioverter defibrillator (AICD).

The unit of rare illnesses will have a crucial role in a clinical research project granted by the Swiss National Science Foundation on Brugada Syndrome. In fact, in young patients, without any other cardiac disorder, the first clinical symptom of the syndrome can be atrial fibrillation, an electrical disorder that implies a complex clinical treatment for these patients. This research will define the common physiopathological mechanisms, which determine the outbreak of atria arrhythmias in Brugada Syndrome and will study the relationship between the presence of electrical anomalies and the risk of ventricular arrhythmias which represents a threat to life.

Within the Center for Computational Medicine in Cardiology at the Università della Svizzera Italiana, a strong impulse will be given for the development of a personalized cardiac 3D modelling approach in order to improve the knowledge of electric anomalies that affect the heart of the patients. Last but not least, one of the most valuable aspects of the project is its impact on territorial epidemiology.