What is CPVT?
CPVT is a serious disease associated with a high risk of life-threatening arrhythmias. The mean age of onset of symptoms in CPVT patients is 12 years of age. Fainting episodes, caused by arrhythmias that are triggered by physical exercise or acute emotions, are the typical manifestations of the disease. If not properly treated, 75-80% of patients experience at least one cardiac arrest before age 40 and sudden cardiac death may occur in as many as 30% of patients.
Why will EU-Rhythmy study CPVT?
In the late nineties we started searching for the gene that could cause CPVT: at that time the disease was still quite unknown, but we had already collected a large number of these patients in our clinics, including a large family with seven siblings all of whom were affected by the disease. Thanks to this family we were able to discover that the disease is caused by a gene called RyR2 that controls calcium inside cardiac cells. Since this breakthrough, a lot of patients with CPVT have been referred to our clinic and we have developed animal models of the disease and made advancements in the understanding of the mechanisms that lead to sudden death.
What are the aims of our research?
All the clinicians working in our clinics and all the scientists in our laboratories harbor the same dream in their hearts: to improve treatment strategies for our patients and discover a cure to free them from the fear of a cardiac arrest.