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 can identify children with a potentially fatal inherited heart condition.
The study, jointly funded by LifeArc and Action Medical Research, was published in the journal Neurology. Circulation: Genomics and Precision Medicine.
Up to 1,000 children in the UK are affected by hypertrophic cardiomyopathy (HCM), a rare genetic disorder which causes the heart muscle to thicken.
Over time, the heart may be unable to pump enough blood to meet the body’s needs, which can cause sudden death in children and adolescents.
Results of the study showed that the new test worked well as a marker for HCM.
Juan Pablo Caschi, professor of paediatric genetic cardiovascular medicine at the Institute of Cardiovascular Sciences, University of London, and consultant cardiologist at Great Ormond Street Hospital, said: “If confirmed and validated, the development of a simple blood test to detect this disease and identify children at high risk of having HCM could have a major impact on the care of children with this condition.”
The test measures seven proteins in the blood and can also identify four that may indicate cases at higher risk of sudden death.
The researchers hope that the test can be developed for use across the NHS, helping to speed up the diagnosis and treatment of children with the disease.
Dr Catriona Crombie, Head of Rare Diseases at LifeArc, said: “Rare diseases can be difficult to diagnose, but once a diagnosis is made it makes a huge difference to patients and their families. Ultimately, we hope that more children will be diagnosed earlier and have access to better treatments that can save their lives.”
Dr Caroline Johnston, senior research manager at Action Medical Research, said: “Funding research to improve our understanding of rare diseases like HCM is important and brings hope to families.”
