Why do apparently healthy people, non-smokes with low cholesterol, sometimes develop heart disease?  And why does a young athlete die suddenly, leaving his of her family grief-stricken and bewildered?

The answer is most likely to lie in their genes, says Professor Hugh Watkins, who holds the BHF Field Marshal Earl Alexander Chair of Cardiovascular Medicine at the University of Oxford.

His work focuses on understanding heart disease through genetics.  He is a 'gene hunter' - tracking down variations and abnormalities in our DNA that makes some people more likely to develop heart disease.  He is also a 'gene detective', seeking to understand how these culprit genes alter the working of the cardiovascular system to cause disease and death. 

In the last decade, Professor Watkins and a team of heart researchers have been studying inherited hypertrophic cardiomyopathy (HCM).  This disease of the heart muscle can be hidden for many years, but can cause sudden death, particularly in young athletes who push their hearts to the limit. 

"Anyone who dies like that at a relatively early age will probably have inherited a gene which has put them at risk.  The disease is passed down through families due to faults in individual genes", explains Professor Watkins. 

While working with another BHF funded researcher, Bill McKenna, Professor Watkins has pinpointed some of these genetic culprits.  As a result, they have been able to pilot screening services for affected families.  Once identified as being at risk, individuals can then be treated with medication or by fitting an internal defibrillator.  Thanks to BHF-funded research, these innovative screening services are now being rolled out across the NHS for families at risk.  To date more than a thousand families have been helped by DNA testing at his Oxford laboratory. 

Professor Watkins is also leading one of the world's largest genetic analyses of people who have had a heart attack.  The aim is to find out why healthy people with low cholesterol and who don't smoke sometimes develop heart disease.  By identifying which genes are making them susceptible, it may be possible to unravel the causes and progression of coronary hear disease.  Such insights may go on to save lives.  But much of his work would not have been possible without BHF funding, says Professor Watkins. 

"We feel very fortunate.  Not all countries have a very strong, well-developed heart charity like the BHF." 

TRAGIC INHERITANCE

Nobody knew that chartered accountant Colin Blundell, 25 had a heart condition before he blacked out while climbing in Snowdonia last November, falling 30m (100ft) and dying of head injuries.  A post mortem revealed that he had HCM (hypertrophic cardiomyopathy), one of the most common causes of cardiac arrests in under 35's.  One in 500 people carry the gene although only 1-2 per cent of them will die from it. 

While still in shock from their son's death, his parents Angela and Brian were told their family needed to be tested for the condition.  A scan revealed that Brian also had HCM and he needed more scans and fitness tests to assess his risk of having a cardiac arrest, which fortunately turned out to be low.  While Angela and the couple's elder son were given the all-clear, their grandson will have to be tested every two years when he reaches puberty.  Brian also had to contact his siblings to tell them to get their families tested. 

Brian, now a supporter of CRY (Cardiac Risk in the Young) says,

"We have read of people who have lost several members of their families before they realised that the gene is there.  The important thing now is to ensure everyone in the family gets each generation tested to stop it happening again."