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.

Brenda’s son Kristian was 19 when he suffered a sudden cardiac arrest whilst on holiday on the Isle of Skye. Ongoing tests and the record of his medical family tree now suggest a diagnosis of CPVT. Brenda said: “We were having breakfast, Kristian got up and just fell to the ground. His eyes glazed over, he turned grey and went clammy. I knew this was serious, we started to do CPR, amazingly the paramedics arrived within 4/5 minutes. They administered defibrillation 4 times and restarted his heart – he was then flown by air-ambulance to hospital in Glasgow.

“ My own interest in our family history has uncovered a number of fatalities and family members having experienced sudden cardiac arrest. My research has uncovered family members living in the Treherbert area, with my great-great-grandfather, my great-grandfather and his siblings – we know of 7 individuals on the maternal side of the family who have experienced sudden cardiac arrest, Kristian being one of the only survivors. The others were victims of sudden cardiac death at a young age, the youngest being only 13”.

The British Heart Foundation (BHF) Cymru is investing in CPVT research at Swansea University Medical School. Under the direction of Alan Williams, British Heart Foundation Sir Thomas Lewis Professor of Cardiovascular Science, world-leading 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”.

For more information and advice about inherited heart conditions and to support the BHF to fund more research to end the devastation of heart disease visit www.bhf.org.uk/unexpected

1) We have made a BHF estimate for Wales based on the national frequency shown in Papadakis, Sharma et al. “The magnitude of sudden cardiac death in the young: a death certificate-based review in England and Wales.” Europace 2009 Vol.11, No.10, p1353-1358

The BHF delivers the Genetic Information Service (GIS) that can provide information if you or a member of your family has been diagnosed with or has died from a suspected inherited heart condition. The service, run by cardiac nurses trained in practical genetics, can help facilitate a GP referral for expert assessment in a specialist clinic that deals with inherited heart conditions. This assessment could help to detect and treat an inherited heart condition in you and other family members, potentially saving lives. The GIS is available on 0300 456 8383. Lines are open from 9am to 5pm Monday to Friday (charged at a rate similar to 01 or 02 calls).