New Blood Test Identifies Children with Rare Heart Condition

Hypertrophic cardiomyopathy (HCM) is a hereditary condition that leads to the thickening of the heart muscle and is the most frequent cause of sudden death among children and teenagers. There is no cure for HCM, and it can occasionally lead to sudden death in young individuals. While diagnostic capabilities for this condition have significantly improved in recent years, many of the current testing methods are expensive and not widely accessible across the world. Moreover, despite significant progress in identifying children at risk of sudden cardiac death due to HCM, there remains a need for faster and more precise detection methods. A novel blood test now offers hope in identifying children afflicted by this potentially lethal heart condition.

Researchers at University College London (London, UK) have demonstrated that this new test, which measures seven specific proteins in the blood, can effectively serve as an indicator for HCM. Additionally, it can identify four proteins that are associated with a higher risk of sudden death. This breakthrough creates the possibility such a test being used to speed up the diagnosis and treatment of children with HCM. If confirmed and validated, this simple blood test that can both detect the disease and flag high-risk children with HCM could significantly enhance the management of this condition.

Typical symptoms of HCM include shortness of breath, chest pains, and palpitations, which occur as the heart muscle stiffens and becomes less efficient at pumping blood. However, many individuals with HCM may remain undiagnosed or asymptomatic. Living with this potentially dangerous condition can be challenging. Diagnosing this rare disease is complex, but obtaining a diagnosis can significantly affect the patients and their families. Ultimately, such a blood test could help more children receive timely diagnoses and access to improved treatments, potentially saving lives.

“We need to diagnose patients earlier so we can treat them sooner for a better outcome. At present, we are shutting the stable door after the horse has bolted and we need to start new therapies before patients develop symptoms. Therefore, we set out to use state-of-the-art technology to find new and better biomarkers for HCM and develop them into a test we can translate into any large NHS laboratory,” said Professor Kevin Mills from UCL Great Ormond Street Institute of Child Health. “With sufficient funding, we hope that this may be possible within two years and potentially into a simple bloodspot test that can be posted from home directly to the lab.”

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University College London
UCL Great Ormond Street Institute of Child Health