New paediatric blood test to prevent sudden death from hereditary heart condition

Hypertrophic cardiomyopathy is a rare condition that affects up to 1,000 children in the UK

Researchers from University College London (UCL) and Great Ormond Street Hospital have developed a new blood test that could identify children with a potentially fatal, hereditary heart condition.

The research, co-funded by LifeArc and Action Medical Research, was published in the journal Circulation: Genomics and Precision Medicine.

In the UK, up to 1,000 children are living with hypertrophic cardiomyopathy (HCM), a rare hereditary condition that causes the thickening of the heart muscle.

Over time, the heart can no longer take in or pump out enough blood to supply the body’s needs, which can cause sudden death in children and young people.

Results from the study showed that the new test successfully acted as a marker for HCM.

Juan Pablo Kaski, professor of paediatric inherited cardiovascular medicine, UCL Institute of Cardiovascular Science and consultant cardiologist at Great Ormond Street Hospital, commented: “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 test works to measure seven proteins in the blood and can also identify four proteins, which could indicate cases where there is a greater risk of sudden death.

Researchers hope that this test could be developed to be used across the NHS to help speed up diagnosis and treatment for children living with the condition.

Dr Catriona Crombie, head of rare diseases, LifeArc, commented: “Diagnosing rare diseases can be challenging, but having a diagnosis can make a huge difference for patients and their families… 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, Action Medical Research, said: “Funding research to further our understanding of rare diseases such as HCM is important and brings hope to families.”

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