BHF Cymru are investing £2.3m in research at Swansea University to help reduce the number of premature deaths in young people (Swansea University, 2017).

It is estimated that one person every fortnight aged under thirty five in Wales is a victim of sudden cardiac death with seemingly no explanation, largely due to undiagnosed inherited heart conditions.

CPVT (catecholaminergic polymorphic ventricular tachycardia) is an inherited heart condition found in young people and children and it is believed that conditions such as this, can go without detection or diagnosis, and can be a cause of sudden cardiac death in young people.

BHF Cymru is investing in CPVT research at Swansea University Medical School. Under the direction of Alan Williams, British Heart Foundation and Sir Thomas Lewis, Professor of Cardiovascular Science, research is ongoing to understand how the mutated gene, RyR2 that can result in CPVT, causes the irregular heart rhythm that is characteristic of the condition.

The RyR2 gene encodes a protein called the cardiac ryanodine receptor or calcium release channel. The research team at Swansea University recreate damaged calcium channels in cells within the laboratory, copying these from real human cells from CVPT patients, to then study how these channels behave. The team is only one of a few in the world that are able to examine these molecules to this degree of detail.

Dr Lowri Thomas, BHF researcher from the Molecular Cardiology team at Swansea University, said “The aim of this research is ultimately to improve the quality of life of those children and young people living with CPVT to develop more effective, personalised treatment. By better understanding the origins of CPVT, down to a molecular level, we will be better equipped in the future to be able to treat these conditions more effectively.”

Ruth Coombs, Head of BHF Cymru, said “Thanks to the generosity of our supporters in Wales, we are able to fund this vital research that looks to prevent the premature deaths of children and young people. We urgently need to fund more research to better understand these heart conditions, make more discoveries, develop new treatments and save more lives. We would urge anyone who has a member of the family who has been diagnosed or has died from a suspected inherited heart condition, to call the BHF Genetic Information Service on 0300 456 8383 to speak to highly trained cardiac nurses who can facilitate a potentially life-saving assessment.”