Congenital heart disease research

What is congenital heart disease?

Each day, 12 babies in the UK are diagnosed with congenital heart disease. This means the heart or the large blood vessels surrounding the heart have not developed properly in the womb.

Often, we don't understand why the baby’s heart hasn't developed properly. But we’re funding research to find crucial breakthroughs. So we can improve the way we diagnose and treat babies, children and adults born with congenital heart disease, and beat the heartbreak caused by these conditions.

Find out more about congenital heart disease.

Discovering the causes of congenital heart disease

At University College London, Professor Claudio Stern is working to understand each step in the process of how the heart forms. Professor Stern is looking at the signals from cells surrounding the developing heart. These signals play an important part in forming the heart, but many are not yet known. By understanding these complex instructions, he hopes to uncover what causes heart defects in babies, so we can eventually help find new ways to repair these defects.

BHF Professor Bernard Keavney at the University of Manchester is investigating how differences in the genes we inherit from our parents increase our risk of congenital heart disease. Congenital heart disease can run in families, but the culprit genes and how they interact when the heart is formed is unknown.

With BHF support, Professor Keavney’s team are conducting a large study of families affected by congenital heart disease. They’re screening people with congenital heart disease and their parents to find possible genetic causes of disease. Finding the genetic causes may allow us to find new ways to treat heart defects before they result in congenital heart disease, and could help provide better advice and counselling to high-risk families.

We know heart defects can occur because of faulty genes inherited from a parent. But they can also be caused by environmental factors - such as if the mother has diabetes, or takes certain types of medication while pregnant. However, we still don’t know exactly how some of these environmental factors lead to congenital heart disease.

Professor Duncan Sparrow in Oxford is investigating how iron levels and low oxygen levels during pregnancy can affect the developing embryo, and if they lead to congenital heart disease. His research could be used to improve the advice given to women who are pregnant or planning to have a child.

Protecting tiny hearts

Children with congenital heart problems often need multiple surgeries. This can be physically and emotionally gruelling for the children and their families.

These operations, although necessary, can cause damage to the heart. During open heart surgery, a technique called cardiopulmonary bypass diverts blood away from the heart, and cardioplegic solution is used to stop the heart beating so surgeons can perform an operation safely, without the heart moving.

However, this technique means that during the operation the heart does not receive oxygen-rich blood. Although cardioplegic solution offers some protection, children’s hearts are sometimes damaged when blood flow is restored at the end of the operation. BHF Professor Massimo Caputo and his team, at the University of Bristol, are looking to protect children’s hearts, by investigating whether a drug called sildenafil could prevent this damage.

Professor Paolo Madeddu, also at the University of Bristol is aiming to reduce the need for repeated operations all together. Currently, grafts used to repair defects in a child’s heart need to be replaced as they grow, meaning they have to go through multiple operations. Professor Madeddu is using stem cell-based tissue engineering to develop a new graft that will be made of living cells, allowing it to grow with the child, so they won’t need as many operations throughout their life.

Making treatment personal

No two heart defects are exactly the same. So what’s successful in treating one person may not work as well for another person.

Dr Claudio Capelli at University College London is using 3D imaging and computer models to help doctors get a better understanding of each heart. Computer simulations could be an extremely valuable tool for visualising, testing and planning surgery in babies and children born with heart defects. But although the technology is ready, it’s not yet made it into widespread practice. Dr Capelli and his team are now testing how accurately their modelling can help repair congenital heart defects. They hope this project will mean more people will benefit from a personalised approach to their treatment in the future, as surgeons work with families to decide on the best treatment.

The difference we've already made

When the BHF was founded in 1961, 8 out of every 10 babies born with congenital heart disease died before their first birthday. Now, thanks to research, we’ve helped to turn this around, with 8 out of 10 babies surviving to adulthood.

Read more about the amazing contribution of BHF funded researchers to congenital heart disease research, including developing pioneering surgical techniques.