Science
Shining a spotlight on rare inherited disease to protect hearts this Valentine’s Day
We are funding a new study at the University of Oxford that could help prevent young people from suffering a fatal cardiac arrest due to a rare inherited heart disease.
CPVT is a genetic disorder that disturbs how heart cells function. This can lead to sudden cardiac death in children and young adults.
Rare and tough to diagnose
CPVT – also known as catecholaminergic polymorphic ventricular tachycardia – affects about 1 in 10,000 people across the UK, who can suffer from blackouts, palpitations and dizziness. These can be brought on by strenuous physical activity or heightened emotions, which can cause an increase in the amount of adrenaline running through their blood.
CPVT can be difficult to diagnose, with some patients being misdiagnosed with epilepsy. The condition is caused by mutations to a gene which makes a protein called the RyR2 ryanodine receptor (RyR2), which is found abundantly in our heart and brain.
Switching focus
Until recently, few scientists have studied RyR2 in the brain – and it was thought that only these mutations in the heart are responsible for CPVT.
Now, thanks to our grant of more than £260,000, researchers will investigate why sudden cardiac death can happen in CPVT patients.
The study, led by Dr Charalampos Sigalas, European Blaschko Visiting Research Fellow at the 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 these symptoms.
Refining treatment
Dr Sigalas said: “We’re examining whether abnormal activity in the brain triggers cardiac arrhythmias, in the hope of developing new treatments faster for children with CPVT.
“RyR2 is crucial for normal contractions of the heart and vital processes in the brain, including our ability to learn and store lifelong memories. However, mutations to RyR2 can cause unwanted calcium leak within heart and brain cells, potentially leading to cardiac arrest.”
Getting to the heart of the matter
For the first time, his team will test how two antiepileptic drugs affect the heart to improve treatments for patients at risk.
Dr Sigalas added: “While these drugs are effective in treating epilepsy, we’re unsure as to how they affect the heart. We don’t know whether current CPVT treatments are useful for preventing the excess electrical activity in the brain that can occur in this disease.
“Our approach is novel. Rather than just focussing on the heart – and understanding how CPVT affects the whole body – we aim to find safer and better treatments for this cruel disease."
Next step in combat
Subreena Simrick, our Senior Research Adviser, said: “Our funding has helped scientists better understand the faulty genes that cause CPVT – this project will build on that work by studying treatments that target one of the key genes involved.
“We know certain medications don’t work for everyone, so we’re supporting our brightest minds to discover new ways to diagnose and treat people as effectivity as possible.
“This research is only possible thanks to generous donations from the community, who are helping us mend hearts and keep more families together.”
Shannon's story
Meet Shannon, a 23 year old nurse. She was diagnosed with CPTV on Valentine's Day in 2011. See how she's learned to live with this heart condition, and make some lifelong friends along the way.