A diagram to show blood flow in the heart.

Our funding helped scientists find a faulty gene that causes the most common type of cardiomyopathy.

Now we're helping scientists discover new treatments for this group of conditions. 

While cardiomyopathy is relatively uncommon, its effects can be serious. It can cause the heart to thicken or enlarge, and can cause sudden death in young people.

It's estimated that 120,000 people are living with hypertrophic cardiomyopathy (one of the most common cardiomyopathies) in the UK. Most of these people are currently undiagnosed as many do not have symptoms.

Finding the faulty genes

The research we fund has given us tools we can use to identify and help people with cardiomyopathy.Professor Hugh Watkins

Researchers Bill McKenna and BHF Professor Hugh Watkins have led the way in finding a faulty gene that causes hypertrophic cardiomyopathy (HCM).

Following a diagnosis of hypertrophic cardiomyopathy, people are now offered a test to identify the specific faulty gene that causes their condition. This means that their family members can then also be tested as we know that hypertrophic cardiomyopathy runs in families.

Developing treatments

Knowing that many cardiomyopathies are caused by faulty genes is one thing. Using that knowledge to develop drugs or other treatments is now within our reach, but we need your help to keep working towards this goal.

Abnormal blood flow to the heart is a characteristic of some cardiomyopathies.

Dr Claire Raphael from Imperial College London uses imaging techniques to monitor people with HCM and identify the causes of abnormal blood flow to the heart.

Claire's research could allow for the development of successful treatments for HCM in the future, to change the lives of people like Lee.

Cardiomyopathy and skin disease

Researchers have found an unlikely link between an inherited heart condition called ARVC (arrhythmogenic right ventricular cardiomyopathy) and PPK (palmoplantar keratoderma) - a skin disease that can cause people to have thick and often painful calluses on their palms and soles.

We are funding researchers at Barts and the London School of Medicine and Dentistry to find out more about the genetic errors that link these conditions.

Studying proteins

The heart functions by contracting and relaxing constantly to pump blood around the body. Titin is one of the proteins responsible for the structure of the heart muscle. Genetic studies have shown that people with a faulty version of titin can develop cardiomyopathy because the structure of their heart muscle is faulty.

We are funding Dr Olga Mayans and Dr Daniel Rigden from the University of Liverpool to look at the structure of the titin protein in more detail. They will identify which parts of the protein are essential for correct functioning of the heart muscle, which could help doctors diagnose and treat titin-related heart conditions.

BHF Professor Mathias Gautel studies the interaction of two of the proteins that are vital for the structure of healthy heart muscle. His research answers fundamental questions that could ultimately lead to treatments for people suffering with cardiomyopathies.

Support heart research

This research was only possible through generous donations from the public, but there is still lots of work to do in the fight for every heartbeat.