Improving the lives of patients with tetralogy of Fallot

Improved outcome prediction in Tetralogy of Fallot

Tetralogy of Fallot affects approximately one in every 3,600 births. It is the most common cyanotic congenital heart defect present at birth (where the baby’s skin has a blue appearance because it is not receiving enough oxygen-carrying blood). Although affected children can have an operation to fix the defect, in adolescence or adulthood they have a high risk of life-threatening abnormalities in heart rhythm. This is thought to be caused by the development of scar tissue in one of the heart chambers called the right ventricle. Professor Michael Gatzoulis and his team at Imperial College London will study the characteristics of this scar tissue to try to identify whether its formation could be stopped. They will look at the genes involved in causing the scar tissue to form. They will then look at whether sophisticated heart imaging techniques can be used to diagnose the onset of scarring more accurately and quickly than current methods of looking at heart cells under a microscope. The results should greatly benefit patients affected by tetralogy of Fallot. Their work could potentially lead to earlier diagnosis of the scarring complications while it is at a reversible stage and help identify younger patients most at risk.