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What did the project achieve?
Estimates suggest that up to 1,000 children in the UK are living with hypertrophic cardiomyopathy (HCM), an inherited heart condition caused by faulty genes.1 It causes the heart muscle to thicken and become stiff, which can lead to symptoms such as shortness of breath, chest pain and palpitations. Sadly, there is currently no cure, and HCM is one of the leading causes of sudden cardiac death in young people.
“We’ve developed a simple blood test that could help prevent the tragic loss of young lives from this rare heart condition,” says Professor Juan Pablo Kaski of University College London and Great Ormond Street Hospital. “If our findings are validated in larger studies, it could ultimately have a major impact on the care of children born with this potentially life-threatening condition in the future.”
The research builds on a previous blood test the team developed for adults with HCM, which can identify the disease and indicate how severe it is. In this study, the team explored whether the same approach could work for children with the condition.
“We’ve shown that, just as in adults with HCM, this test can tell apart children with HCM from those who don’t have it, including those who carry a faulty gene linked to the condition but have no symptoms,” says Professor Kaski.
The researchers have now validated the latest version of the test, which measures seven proteins in blood, showing it can accurately and reliably distinguish children with HCM from those without the disease. They also developed a second test, based on four blood proteins, which can predict which children are at the highest risk of sudden cardiac death.
“These findings could ultimately help improve and save lives of children with HCM through early detection and more accurate risk prediction,” says Professor Kaski. “Importantly, the blood proteins we’ve identified could also act as biomarkers to help assess how well new drugs work in future clinical trials, paving the way for better treatments.”
References
- Arola, A et al. Epidemiology of idiopathic cardiomyopathies in children and adolescents. A nationwide study in Finland. Am J Epidemiol 1997; 146(5):385–93.
This research was completed on
This project is jointly funded by Action Medical Research and LifeArc.
How are children’s lives affected now?
Estimates suggest up to 1,000 children in the UK have HCM, and there may be many more undiagnosed with few or no symptoms.1 The thickening of the muscular wall of the heart makes their heart muscle stiff and less efficient at pumping blood around the body, which can lead to symptoms such as shortness of breath, chest pain and palpitations.
“While HCM is rare in children and may cause no symptoms, it is sadly a leading cause of sudden cardiac death in young people,” says Dr Kaski.
Researchers have discovered more than 300 different gene faults that may play a role in HCM. But doctors can’t predict if and when a child will develop any symptoms – or their severity – simply by examining their genes.
“Currently, doctors focus on managing symptoms, screening relatives and reducing complications in children with HCM,” says Dr Kaski. “But improving understanding of the early features of the disease and how it progresses over time could help shift the focus towards prevention.”
How could this research help?
“Our ultimate goal is to improve the diagnosis, monitoring and treatment of children with HCM – making it possible to prevent the disease from progressing,” says Dr Kaski.
The team recently developed a new blood test – and have shown that it can identify adults with HCM and provide a measure of disease severity.
“We will now evaluate whether this test can provide accurate results in children diagnosed with HCM and children who have a faulty HCM gene but have not developed any symptoms,” says Dr Kaski.
The researchers will also carry out other analyses of blood and urine samples. By combining biological and clinical data, they will look for biological markers that can predict disease severity and progression in children with HCM.
Our findings could lead to faster and cheaper diagnostic tests – and new tools that can monitor disease progression in children with HCM. We also hope to uncover new insight into biological mechanisms at the early stages of the disease, paving the way to new treatments that can help prevent its development.
References
- Arola, A et al. Epidemiology of idiopathic cardiomyopathies in children and adolescents. A nationwide study in Finland. Am J Epidemiol 1997; 146(5):385–93
Research table
Project details
| Project Leader | Dr Juan P Kaski, BSc MBBS MRCPCH MD(Res) FESC FRCP |
| Location | Institute of Cardiovascular Science, University College London |
| Project Team |
Dr Kevin Mills, BSc PhD
Dr Wendy Heywood, BSc PhD |
| Other Locations |
UCL Centre for Inborn Errors of Metabolism, UCL Great Ormond Street Institute of Child Health
Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital for Children |
| Grant Awarded | |
| Grant Amount | £113,793 |
| Start Date | |
| End Date | |
| Duration | 18 months |
| Grant Code (GN number) | GN2889 |
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