New test could prevent major cause of sudden child deaths
11 Jun 2024
A new test designed to measure blood proteins could detect the presence of a serious heart condition in children.
Hypertrophic cardiomyopathy (HCM) is currently known to affect 1,000 under-18s in the UK but is acknowledged as a major cause of sudden death in young people. The hereditary condition, which has no cure, causes thickening of the heart muscle and is capable of causing sudden death.
However a new study published in Circulation: Genomics and Precision Medicine journal claims the new test can act as a marker for the condition.
Developed by researchers at University College London (UCL) and Great Ormond Street Hospital, the test measures seven proteins in the blood and also four which indicate those cases where the risk of sudden death may be greatest.
UCL Institute of Cardiovascular Science professor of paediatric inherited cardiovascular medicine Juan Pablo Kaski stated:
“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.”
Kaski, who is also consultant cardiologist at Great Ormond Street added that although “huge advances” had been made in identifying children with HCM at risk, quicker and more accurate methods were needed.
“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,” he said.
The HCM study has been made possible on account of investment from charity Action Medical Research and self-funded not-for-profit, LifeArc.
Head of Lifearc’s Rare Disease Translational Challenge Dr Catriona Crombie said her organisation has been working with Action Medical Research to fund similar projects since 2019.
“Diagnosing rare diseases can be challenging but having a diagnosis can make a huge difference for patients and their families. We hope that this will ultimately help more children get a diagnosis sooner and have better treatments that could help to save their lives,” she said.
Pic: Seven-year-old Hypertrophic cardiomyopathy sufferer Henry with Professor Kaski.
