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Hypertrophic cardiomyopathy – improving diagnosis and monitoring of the disease in children

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Hypertrophic cardiomyopathy (HCM) is an inherited condition that causes a thickening of the heart muscle. Although it is rare, the condition can cause sudden death in children. Dr Juan Pablo Kaski of University College London is aiming to identify biological markers in blood and urine that can identify children with HCM and predict disease severity and progression. Ultimately, this could lead to new tests that can improve the diagnosis and monitoring of the condition in young people. The results could also pave the way to new treatments that can help prevent disease development in those at risk, improving and saving children’s lives.

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.

Dr Kaski


  1. 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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