Genetic heart conditions

Some types of heart disease are caused or influenced by defects (mutations) or variations in our DNA.

We inherit half our DNA from our mother and half from our father, so heart conditions can be passed down through families.

While some inherited heart conditions are very rare, DNA also plays a role in more common heart problems. For example, having relatives with a history of coronary heart disease increases our chance of developing it.

What are we doing for people with genetic heart conditions?

The research we fund has helped push the boundaries of our understanding of genetics, and given us tools we can use to find and help people at risk of dangerous heart conditions.

We run a Genetic Information Service, information and support for people who have been told they or their family may have an inherited heart condition.

And our scientists are still hunting for the genes that cause so much distress.

Hunting the culprits of heart disease

Cardiomyopathy

Our researchers Bill McKenna and Hugh Watkins, have led the way in finding the genetic mutations that cause one of the most common – and potentially life-threatening – inherited heart conditions, hypertrophic cardiomyopathy (HCM). This condition can cause sudden death in young people, and sometimes elite athletes.

Their work led to a successful pilot of an NHS genetic screening scheme for HCM that is now being rolled out across the UK to help find relatives of people with HCM that may also be affected.

Premature coronary heart disease

To help find out more about the role of genes in premature coronary heart disease, the BHF and Medical Research Council funded the Family Heart Study, involving over 4,000 heart patients and their families. The research was led by BHF Professors Nilesh Samani and Stephen Ball, and Professor Alistair Hall.

The study initially identified a region of DNA that seemed to be linked to the increased risk for some families. However, importantly it also showed that there is no single culprit gene, suggesting that it is a cumulative effect of a number of genes that predispose some people to coronary heart disease.

The information from the study is being used to inform other research and has played a vital role in pinpointing several new genes that could help us to predict which family members need to be most diligent in reducing their heart disease risk, as well as shedding light on how and why disease develops at an early age in some people.

Familial Hypercholestrolemia

BHF Professor Steve Humphries and his team at the Institute of Child Health have carried out gene-hunting research that has led to recommendations for a national screening service for families affected by Familial Hypercholesterolemia (FH).

The condition causes dangerously high levels of harmful cholesterol but, once affected people are identified, doctors can help minimise the dangers of FH with medication and lifestyle changes. In fact, BHF research has suggested that if FH is identified early and treatment given, people with the condition are likely to have a normal life-expectancy. Track the progress of FH research from bench-to-bedside in our research timeline.

What’s next?

There's a long way to go, and we still need your help. 

We are funding the science that will help us unravel how slight differences in our genetic make-up combines with our environment to make some of us more or less susceptible to disease.

We're also investing in research into gene therapies - manipulating an individual gene in individual cells - to help improve heart bypass surgery.

In the future it may be possible to tailor prevention and treatment strategies to each of our individual genetic codes.

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