Cardiomyopathy research

What is Cardiomyopathy?

Cardiomyopathy is a broad term for a group of diseases that affect the heart muscle. The muscular walls of the heart’s chambers can become stretched, thickened and stiff. This changes their size, shape and ability to efficiently pump blood around the body.

Cardiomyopathies are often inherited, which means they can run in families. Some members of a family may be affected more than others.

Find out more about the symptoms and causes of cardiomyopathy. 

A hidden killer

The most common form of cardiomyopathy is called dilated cardiomyopathy, or DCM. This is when the walls of the heart become stretched and thin, the heart chambers become ‘baggy’ and the heart can’t effectively pump blood around the body.

It can be caused by a number of things, including certain viral infections, other heart conditions such as very high blood pressure, or faulty genes. Treatments are limited, and around one fifth of people with DCM die within five years of diagnosis, usually from heart failure or faults in the heart’s electrical rhythm, sometimes causing sudden death.

Even once diagnosed, it’s very difficult to predict who will develop the most severe forms of the disease. Now, a team of experts, led by Professor Stuart Cook at Imperial College London, will run the largest ever DCM study of its kind. The researchers will study the genetics, proteins and heart structures of 2000 people with DCM. They’ll search for new genes that cause DCM, and use imaging techniques to scan the heart of the patients to find out whether damage to heart muscle, such as scarring, predicts how people with DCM will be affected in later life. This will help find better ways to diagnose DCM, understand who is at most at risk and unlock clues to new treatments to ultimately prevent the condition.

Big data solving problems with a giant protein

In King’s College London, BHF Professor Mathias Gautel and his team are exploring how heart muscle cells work to enable the heart to pump. Part of the team’s work is looking at how faults in the proteins that link together to cause muscle contraction can cause heart problems like cardiomyopathies. The problems with the proteins the team are examining are caused by faults in the genes that are used to make the proteins. One of these proteins, titin, is so large, that normal genetic tests which can be used to understand the causes of these problems don’t work well. To get around this problem, Professor Gautel and his colleagues at King’s College London are creating a new database of changes in titin to enable clinical geneticists to work together to understand how these mutations can affect people. The hope is that this will allow the creation of personalised treatments for people with HCM.

Broken heart syndrome

Takotsubo cardiomyopathy occurs after extreme emotional or physical stress, and causes the heart to weaken so it undergoes a type of sudden onset heart failure. It’s sometimes referred to as ‘broken heart syndrome’, because it can happen after the death of a loved one. Scientists don’t really understand how this happens, so Dr Dana Dawson at the University of Aberdeen is investigating what happens in the heart during times of stress - to try and work out how Takotsubo cardiomyopathy occurs, and how we could treat it more effectively.

The difference we've already made

Thanks to BHF funded research, we’ve pinpointed the genes that cause many cardiomyopathies, and have discovered that many of them run in families, and can be inherited. (link to successes page for more detail) 

BHF Professor Hugh Watkins was behind the research that has led to a UK-wide rollout of genetic testing for hypertrophic cardiomyopathy (HCM,) allowing families to get tested and treated for cardiomyopathy, before their health can be seriously affected.

Read more about our successes in hypertrophic cardiomyopathy research.