The UK’s University of Oxford is conducting a new study that could prevent young people from suffering a fatal cardiac arrest due to a rare inherited heart disease. Financed by the British Heart Foundation, the research seeks to address CPVT, also known as catecholaminergic polymorphic ventricular tachycardia, which affects about 1 in 10,00 people across the UIK. These patients can suffer blackouts, palpitations and dizziness, brought on by strenuous physical activity or heightened emotions, which can trigger an increase in adrenaline running through the blood.

Challenge Today

Currently, it can be quite difficult to diagnose CPVT, with some patients getting misdiagnosed with epilepsy. The condition is triggered by a mutation to a gene which produces a protein known as RyR2 ryanodine receptor (RyR2), which is found abundantly in the heart and brain.

A Change in POV

Traditionally few scientists studied RyR2 in the brain and it was believed that only these mutations in the heart could be responsible for CPVT. However, with a $400,000 grant offers investigators the opportunity to under understand sudden cardiac death can occur in CPVT patients. Dr. Charalampos Sigalas, Blaschko Visiting Research Fellow, University of Oxford, will determine if the brain is contributing to fatal cardiac arrests and will study the effectiveness of current epilepsy drugs in preventing such symptoms.

Lead Research/Investigator

Dr. Charalampos Sigalas, Blaschko Visiting Research Fellow, University of Oxford

Source: British Heart Foundation

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