Our research on congenital heart defects

What is congenital heart disease?

Every day around 13 babies in the UK are diagnosed with congenital heart disease. This means that the heart or the large blood vessels surrounding the heart did not develop properly in the womb.

Often we do not understand why the baby’s heart did not develop properly. But we fund 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 overcome the heartache caused by these diseases.

Learn more about congenital heart disease.

Discover the causes of congenital heart disease

At University College London, Professor Claudio Stern works to understand every step in the process of heart formation. Professor Stern examines signals from cells surrounding the developing heart. These signals play an important role in the formation of the heart, but many are not yet known. By understanding these complex instructions, he hopes to discover what causes heart defects in babies, so that we can eventually help find new ways to fix these defects.

BHF Professor Bernard Keavney from the University of Manchester is studying how differences in the genes we inherit from our parents increase our risk of congenital heart disease. Congenital heart diseases can be inherited, but the culprit genes and how they interact during the formation of the heart are unknown.

With the support of BHF, Professor Keavney’s team is conducting a large study of families affected by congenital heart disease. They examine people with congenital heart disease and their relatives to find possible genetic causes of the condition. Uncovering the genetic causes may allow us to find new ways to treat heart defects before they lead to congenital heart disease, and could help provide better advice and guidance to high-risk families.

We know that 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 during pregnancy. However, we still don’t know exactly how some of these environmental factors lead to congenital heart disease.

Professor Duncan Sparrow from Oxford is studying how iron levels and low oxygen levels during pregnancy can affect embryo development and whether they lead to congenital heart disease. Her research could be used to improve the advice given to women who are pregnant or planning to have a child.

Protect little hearts

Children with congenital heart problems often need multiple surgeries. It can be physically and emotionally taxing for 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 from the heart and a cardioplegic solution is used to stop the beating of the heart so that surgeons can perform an operation safely, without the heart do not move.

However, this technique means that during the operation, the heart does not receive oxygen-rich blood. Although the 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, aims to reduce the need for repeat operations all together. Currently, the grafts used to repair a child’s heart defects have to be replaced as they grow, which means they have to undergo several operations. Professor Madeddu is using stem cell-based tissue engineering to develop a new transplant that will be made from living cells, allowing it to grow with the child, so it won’t need as many operations throughout his life.

Customize treatment

No two heart defects are exactly alike. So what works for one person may not work as well for another.

Dr Claudio Capelli of University College London is using 3D imaging and computer models to help doctors better understand each heart. Computer simulations could be an extremely valuable tool for visualizing, testing and planning surgery in babies and children born with heart defects. But although the technology is ready, it is not yet widespread. Dr. Capelli and his team are currently testing the accuracy of their modeling to help repair congenital heart defects. They hope this project will mean that more people will benefit from a personalized approach to their treatment in the future, as surgeons work with families to decide on the best treatment.

The difference we’ve already made

Before the BHF was established in 1961, the majority of babies born with congenital heart disease died before their first birthday. Today, through research, we’ve helped turn the tide, with 8 out of 10 babies surviving to adulthood.

Learn about the incredible contribution of BHF-funded researchers to congenital heart disease research, including the development of pioneering surgical techniques.