A new blood test that could help prevent sudden child deaths caused by a rare heart condition has been developed by Professor Juan Pablo Kaski and his team at University College London and Great Ormond Street Hospital, thanks to funding from Action Medical Research.
Hypertrophic cardiomyopathy (HCM) is an inherited condition that causes a thickening of the heart muscle and is estimated to affect fewer than 1,000 children and adolescents in the UK. The thickened muscle becomes stiff and less efficient at pumping blood around the body which can lead to symptoms such as shortness of breath, chest pain and palpitations. Sadly, HCM is also a leading cause of sudden cardiac death in young people. Current treatments are aimed at managing symptoms, screening relatives and preventing complications, including sudden death, heart failure and stroke. However, there are no treatments which target the underlying disease mechanism (what causes the disease) or aim to prevent disease development in those at risk.
In this study the researchers have developed a blood test which can identify children with HCM, and who are more at risk of developing symptoms. They have shown that their test, which measures seven proteins in the blood, can successfully detect proteins in the blood that are a marker for this disease. The published results show that the new test can also identify four proteins which may indicate cases where there is a greater risk of sudden death, and there is hope this could be developed for use across the National Health Service (NHS) to speed up diagnosis and treatment for children with the condition.
The development of a simple blood test to both detect the disease and identify high-risk children with HCM, if confirmed and validated, could have a major impact on the care of children with this condition.
The new test has the potential to improve and save lives of children with HCM (including those identified by gene testing who have not shown any symptoms); and provide significant cost benefits to the NHS. Importantly, the biomarkers identified could also be used to assess the success of new drug treatments in future clinical trials.
Professor Kaski explains: “Although our ability to diagnose the condition [HCM] has improved considerably in the last few years, many of the tests we use are expensive and may not be routinely available throughout the world. In addition, whilst we have also made huge advances in the identification of children with HCM at risk of sudden cardiac death, we are still looking for quicker and more accurate ways to do this. The development of a simple blood test to both detect the disease and identify high-risk children with HCM, if confirmed and validated, could have a major impact on the care of children with this condition.”
The project is jointly funded by Action Medical Research and LifeArc.
Henry (pictured with Mum), was born with hypertrophic cardiomyopathy (HCM). His mum Kayleigh feels that research like this will bring hope to families like theirs.
