RARE Daily

Blood Test Could Prevent Death of Children with Hereditary Heart Condition

June 10, 2024

Rare Daily Staff

Researchers in England have developed a blood test they say could identify children with the potentially fatal heart condition hypertrophic cardiomyopathy.

Hypertrophic cardiomyopathy (HCM) causes thickening of the heart muscle. There is currently no cure and, although rare, it can cause sudden death in children and young people. Up to 1,000 children in the United Kingdom are living with HCM.

Researchers at University College London and Great Ormond Street Hospital Research published their findings in the journal Circulation: Genomics and Precision Medicine that demonstrated the new test, which measures seven proteins in the blood, can act as a marker for HCM.

The test can also identify four proteins that 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 National Health Service to speed up diagnosis and treatment for children with the condition.

“Hypertrophic cardiomyopathy is the most common 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,” said Juan Pablo Kaski, professor of pediatric inherited cardiovascular medicine at the UCL Institute of Cardiovascular Science and consultant cardiologist at Great Ormond Street Hospital. “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.”

Action Medical Research and LifeArc provided funding for the work.

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