Every year on 29 September, people across the world mark a day which has great significance to them – World Heart Day. Perhaps they have had experience with cardiovascular disease (CVD) first-hand, or know someone who has lost a loved one to an associated condition.

Known as the ‘world’s biggest killer’, CVD claims more than 20 million lives per year. But there is hope: 80% of premature deaths from CVD are preventable by making small changes to our daily lifestyle – what we eat, drink, how we manage stress and how much we exercise can have a great impact on how we can better manage our heart health.

Spotlighting hypertrophic cardiomyopathy (HCM)

It’s staggering to learn that every week, at least 12 young people in the UK (under the age of 35) die from an undiagnosed heart condition. Inherited heart conditions are more common than we might think.

HCM is the most commonly inherited heart condition, with one in 500 people reported to have the condition in the UK.

With HCM, the muscular wall of the heart – the myocardium – becomes thickened. This can make it more difficult for blood to be pumped around the body as the heart muscle becomes stiff.

Many people may be unaware that they have, or are carriers of, HCM as there are few symptoms. Warning signs that can present include chest pain, heart palpitations, shortness of breath, fatigue, and swelling of the legs, feet, ankles, and abdomen. Other more severe health issues include abnormal heart rhythms (arrythmias), endocarditis – the infection of the heart’s inner lining, or sudden cardiac death (SCD).

SCD can be the first manifestation of HCM in people with no other symptoms, with the highest risk in young people under the age of 30 years old – something that Molly had experience with almost ten years ago, when her brother Max died in his sleep from HCM – he was just ten years old. Max’s condition was not picked up until after his death because of his young age.

Wanting to support more research into HCM and to raise awareness to help prevent other families having a similar experience to theirs, Molly’s family set up a small volunteer-led charity - Max’s Foundation. The charity fund research into, and support those affected by, genetic heart conditions in children. Though HCM is less common in children than adults, with a prevalence of 1 in 200,000, HCM is the second most common type of cardiomyopathy in children.

The beating heart of change

Unfortunately, there are no current cures for HCM, but there are treatments to help control symptoms – including medicines like diuretics and beta blockers, as well as pacemakers or assist devices and catheter ablations. As common as it is, many people living with HCM are undiagnosed, in part due to lack of awareness of the condition and its symptoms.

As such, research around HCM is crucial to diagnosing and finding treatments to help those with HCM. Max’s Foundation partnered with the Centre for Inherited Cardiovascular Diseases at Great Ormond Street Hospital (GOSH) to support with funding two new research positions. The researchers funded by Max’s Foundation have been involved with collecting samples for the GOSH BIOPIC Study (Measuring Biomarkers in Children with Inherited Cardiovascular Disease), developing and validating a new risk prediction model to identify HCM in young children, and supporting with international clinical trials.

The research at GOSH has been instrumental in establishing the new University College London (UCL) Centre for Paediatric Inherited and Rare Cardiovascular Disease, which has resulted in advances and scientific developments in the field of childhood cardiomyopathies, significantly impacting the treatment of children with these conditions.  

Earlier this year, research by GOSH and UCL – headed by Prof. Juan Pablo Kaski – looked into identifying children with HCM that are at risk of sudden cardiac death. The team found that a new blood test, which measures seven proteins in the blood, could act as a marker for HCM. Four of the proteins identified may also indicate cases where there is greater risk of sudden death.  

Across the pond in the US, the American College of Cardiology (ACC) and American Heart Association (AHA) released new clinical guidance for the diagnosis and treatment of patients with HCM. As part of the guidance, cardiac myosin inhibitors are now recommended as therapy, alongside surgery to remove a portion of the thickened wall that is obstructing the flow of blood.

The new guidance also incorporates a risk calculator for SCD in young patients, which was developed and validated with support from the Max’s Foundation research nurse and already featured in the 2023 guidelines by the European Society of Cardiology.

“Spreading awareness about HCM has always been close to my heart, but even more so in the lead up to World Heart Day this year. Knowing how many children that Max’s Foundation could help to save – or at the very least, see an improved quality of life via the introduction of new treatments – is a tremendous reward for our family and legacy to Max.” – Molly Schiller, SMWI and co-founder of Max’s Foundation

Delve deeper into the work that Max’s Foundation provides funding for and learn about available treatments and fundraising for further research by visiting Max’s Foundation or the World Heart Foundation.