Test could pinpoint childhood heart condition

Funding from the charity Action Medical Research and LifeArc has supported researchers at UCL (University College London) and Great Ormond Street Hospital (GOSH) in development of a new blood test that could identify children with a potentially fatal heart condition.

Up to 1000 children in the UK are thought to be living with the hereditary condition hypertrophic cardiomyopathy (HCM), which causes thickening of the heart muscle. There is currently no cure and, although rare, it can cause sudden death in children and young people.

The new test has shown the ability to measure seven proteins in the blood which can successfully act as a marker for HCM. The test can also identify four proteins which may indicate cases where there is a greater risk of sudden death and there are now hopes this could be developed for use across the NHS to speed up diagnosis and treatment for children with the condition.

 Juan Pablo Kaski, Professor of Paediatric Inherited Cardiovascular Medicine at the UCL Institute of Cardiovascular Science and consultant cardiologist at Great Ormond Street Hospital, explains: “Hypertrophic cardiomyopathy is the commonest cause of sudden death in children and teenagers. Although our ability to diagnose the condition 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.”

Dr Catriona Crombie, Head of the Rare Disease Translational Challenge at Lifearc, said:

“Diagnosing rare diseases can be challenging but having a diagnosis can make a huge difference for patients and their families. LifeArc has been working with Action Medical Research to fund projects like this since 2019 and we hope that this will ultimately help more children get a diagnosis sooner and have better treatments that could help to save their lives.”

Dr Caroline Johnston, Senior Research Manager at Action Medical Research, says: “Funding research to further our understanding of rare diseases such as hypertrophic cardiomyopathy is important and brings hope to families. We are delighted to partner with LifeArc and work towards improving the lives of children living with HCM.”

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