Our research leads to milestone in cardiac screening for high risk families

23 September 2016        

Category: Survival and support

a researcher looking into a microscope

The largest NHS-based centre to identify genetic causes of heart disease has welcomed its 10,000th family.

The service, Oxford Medical Genetics Laboratory at the Churchill Hospital, has identified thousands of patients at risk of developing an inherited heart condition and has helped to avoid thousands of sudden cardiac deaths

Lifesaving discoveries

Launched in 2003, the Oxford-based service is a result of major scientific breakthroughs made by our researchers. One of its founders, BHF Professor Hugh Watkins, was among the first to find many of the faulty genes underlying various inherited heart conditions.

A hidden killer

In some cases these conditions can go unnoticed in families until it causes the sudden death of an otherwise healthy young person.

Despite there being no cure for these conditions genetic testing for families at risk means that individuals can be identified and with treatment most people can lead a normal life.

The ultimate tragedy 

Helen Fowler's son collapsed and died suddenly at the age of just 14. Tests revealed Isaac carried a gene change which put him at risk of developing Long QT Syndrome. This was likely to have been the cause of death.

Since then, Helen and four of her relatives have tested positive for the condition, which they manage with medication. Helen described the impact of the tests: "It has helped us to know who has got it in the family. It is reassuring to know because it can then be treated."

The solution

Despite the service in Oxford reaching a landmark milestone by welcoming its 10,000th family, services across the UK are still patchy and not everyone has access.

In January 2016 we launched The Miles Frost Fund in memory of Sir David Frost's son, Miles, who died suddenly of an undiagnosed heart condition called hypertrophic cardiomyopathy (HCM). The family believe Miles inherited HCM from his father and aim to raise £1.5 million to ensure genetic testing for HCM and other inherited conditions is available nationwide.

Our Medical Director Professor Peter Weisberg, said: "Testing for these genes has already helped to avoid thousands of sudden cardiac deaths in this country. With further support, the Miles Frost Fund will help to ensure that families at risk, no matter where they live in the UK, have access to these services."