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

HCM causes thickening of the heart muscle and can result in sudden death for children and teenagers.

Results of the research conducted by UCL and GOSH have now been published in the journal Circulation: Genomics and Precision Medicine.

The findings show that the new test, which measures seven proteins in the blood, 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.

The research team said it hopes that the diagnostic can be further developed for use across the UK’s National Health Service (NHS), to speed up diagnosis and treatment for individuals with the condition.

According to Juan Pablo Kaski, professor of paediatric inherited cardiovascular medicine at the UCL Institute of Cardiovascular Science and consultant cardiologist at GOSH, HCM is the most common cause of sudden death in children and teenagers.

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While the ability for practitioners to diagnose the condition has improved considerably in recent years, Kaski says that many of the tests used are expensive and may not be routinely available throughout the world. In addition, while huge advances have been made in the identification of children with HCM who may be at risk of sudden cardiac death, quicker and more accurate methods of doing so are still required.

“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,” Kaski said.

To conduct the research, the GOSH and UCL team received investment from charities LifeArc and Action Medical Research.