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New research brings hope to families living with the serious heart condition hypertrophic cardiomyopathy

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Heart disease is usually associated with older people or lifestyle and environmental factors, but estimates suggest up to 1,000 children in the UK are living with the heart condition hypertrophic cardiomyopathy (HCM), a hereditary, lifelong condition, for which there is no cure. Although rare, it can cause sudden death in children and young people.

Seven-year-old Henry was diagnosed with hypertrophic cardiomyopathy, which causes thickening of the heart muscle, when he was just two days old. He was born via emergency caesarean at 37 weeks as doctors had detected another condition, supraventricular tachycardia, which can cause the heart to suddenly beat much faster. It was while being treated for this condition that doctors realised he had hypertrophic cardiomyopathy. Henry was in some ways lucky to be diagnosed, as many people living with the condition may be undiagnosed or do not have any symptoms.

Henry and his family have adapted well, but living with a potentially life-threatening condition is challenging and scary. Henry’s mum Kayleigh comments: “Henry has had to become aware of his condition and recognise when something doesn’t feel right and tell someone. I used to feel very nervous when Henry ran around.” ‘Not feeling right’ could include symptoms of hypertrophic cardiomyopathy, such as shortness of breath, chest pains and palpitations resulting from the stiffening of the heart muscle, which makes it less efficient at pumping blood.

Henry has experienced some symptoms, but he is doing well. “I had nightmares about him taking part in sports day at school as we simply don’t know how far he is able to push himself,” explains Kayleigh. “It feels awful to think we’re holding him back, but the thought of something happening to him is worse than missing out on some activities. He has to be regularly monitored, but he is so understanding and has learnt to take everything in his stride.” Henry’s condition is even rarer as hypertrophic cardiomyopathy is usually hereditary, but according to Kayleigh, the condition isn’t in their family. She explains: “As a precaution Henry’s older sister Georgina also has annual checks. We don’t know what the future could bring, it’s a worry that it could be picked up in our daughter too.”

Although there is currently no cure for HCM, the charity Action Medical Research and self-funded not-for-profit, LifeArc, are jointly funding research which aims to improve the diagnosis and monitoring of the condition in young people. This research could also pave the way to new treatments that can help prevent disease development in those at risk and save children’s lives. Researchers at University College London are conducting studies to identify biological markers in blood and urine that can identify children with HCM and predict disease severity and progression.

Professor Juan Pablo Kaski explains: “We recently developed a new blood test, which can identify adults with HCM and measure the severity of the disease and we are now evaluating whether this test can provide accurate results in children. We are also exploring if the test works in children who have a faulty HCM gene but have not developed any symptoms. Initial results are extremely encouraging and subsequent work will develop this further, moving us closer to being able to identify children with this potentially life-threatening condition early, and to detect which children are at highest risk of disease-related complications. This could have enormous impact on the way this condition is treated.”

Dr Catriona Crombie, Head of the Rare Disease Translational Challenge at Lifearc, said:

“Diagnosing rare diseases can be challenging, but having a diagnosis can make a huge difference for patients and their families. LifeArc have been working with Action Medical Research to fund projects like this since 2019 and we hope that these ultimately help more children, like Henry, get a diagnosis sooner and have better treatments that could help save their lives.”

Henry and his family try not to let his condition define their lives and they are hoping that ongoing research may help Henry now or in the future. Speaking about the importance of research, Kayleigh says: “Understanding of HCM is improving but during Henry’s early days we had no idea what was going on. This research brings hope to other families and we hope that as Henry grows up his path will become steadier and easier.”

For more about Action Medical Research please visit

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Notes to editors

For more information on Action Medical Research, please contact Grace Wardley, Communications and Engagement Officer:

T: 07725 090008



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Action Medical Research is the leading UK-wide charity dedicated to saving and changing children’s lives through medical research. For over 70 years we’ve helped pioneer ways to prevent disease and develop treatments benefiting millions of people. Our research has helped to beat polio in the UK, develop ultrasound in pregnancy, fight meningitis and prevent stillbirths. But we urgently need to develop more new treatments and cures for sick babies and children and we can’t do it without you.

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About LifeArc

LifeArc is a self-funded, non-profit medical research organisation. We take science ideas out of the lab and help turn them into medical breakthroughs that can be life-changing for patients. We have been doing this for more than 25 years and our work has resulted in five licensed medicines and a diagnostic for antibiotic resistance.

Our teams are experts in drug and diagnostics discovery, technology transfer, and intellectual property. Our work is in translational science – bridging the gap between academic research and clinical development, providing funding, research and expert knowledge, all with a clear and unwavering commitment to having a positive impact on patient lives.

LifeArc is committed to spending £1.3 billion by 2030 in areas of high unmet medical need.

LifeArc, a charity registered in England and Wales under 1015243 and in Scotland under SC037861.

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