Cardiomyopathy

Diseases of the heart muscle, called cardiomyopathies, can be caused by defects in our DNA.

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

While cardiomyopathies tend to be uncommon, their effects can be very serious. They can cause the heart to thicken or enlarge, and can sometimes cause sudden death in young people.

Often this is completely unexpected because there were no signs that the person had a heart problem.

What are we doing for people with an inherited cardiomyopathy?

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 for the culprits

With our funding, researchers Bill McKenna and BHF Professor Hugh Watkins have led the way in finding the genetic mutations that cause one of the most common heart muscle conditions, hypertrophic cardiomyopathy (HCM).

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 hidden cases of HCM - relatives of people with the condition that may also be affected.

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.