Researchers at University College London and Great Ormond Street Hospital (GOSH) have developed a new blood test that could identify children with hypertrophic cardiomyopathy, a hereditary heart condition.
Up to 1,000 children in the UK are living with a hereditary condition called hypertrophic cardiomyopathy, which causes thickening of the heart muscle. There is no cure currently and can cause sudden death in children and young people.
The results published in the journal Circulation: Genomics and Precision Medicine provide new hope for children with hypertrophic cardiomyopathy and their families.
Simple blood test identifies hypertrophic cardiomyopathy
The team identified 59 protein biomarkers from exploratory plasma proteomics screens in children with hypertrophic cardiomyopathy and augmented them into existing multiplexed targeted liquid chromatography-tandem/mass spectrometry-based assay. The association of these biomarkers with clinical phenotypes and outcomes was prospectively tested in plasma collected from 148 children with the disease and 50 healthy controls. Machine learning techniques were employed to develop novel paediatric plasma proteomic biomarker panels.
Professor Juan Pablo Kaski, from the UCL Institute of Cardiovascular Science and Great Ormond Street Hospital, said: “Hypertrophic cardiomyopathy is the commonest 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. 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.
“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.”
New hope for families
The team found that four previously identified markers indicate the rare disease in adults and three new markers were elevated in paediatric hypertrophic cardiomyopathy. The new blood test measures these seven proteins in the blood to successfully act as a marker for hypertrophic cardiomyopathy.
Furthermore, the researchers found that reduced circulating levels of four other peptides in children could mean there is a greater risk of sudden cardiac death. This offers new hope that this test could be developed for use in the NHS to speed up diagnosis, and treatment and identify patients with a greater risk of sudden death.
Co-author Professor Kevin Mills (UCL Great Ormond Street Institute of Child Health) said: “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.
“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.
“At UCL, we are fortunate to have access to multidisciplinary teams, allowing researchers from various fields to collaborate and create these tests. This unique environment, with bioinformatics experts like Dr Gaby Captur and test development specialists like Dr Ivan Doykov, enables us to use biomarker panels with AI and machine learning to create cutting-edge tests. This represents the future of diagnostics, and at UCL, we are proud to be at the forefront of this research.”
