First tool for predicting sudden cardiac death in children with HCM

14 August 2019        

Category: Research

Scientists funded by the BHF have developed the first ever tool to identify children at risk of sudden death from hypertrophic cardiomyopathy (HCM).  

HCM is an inherited heart condition that causes the heart muscle to become thicker. It can lead to life-threatening abnormal heart rhythms and sudden cardiac arrest, which is the leading cause of death in children with the condition. Most people with HCM have few, if any, symptoms. Although there are tools which can help predict the risk of sudden death in adults with the condition, until now they haven’t existed for children.

First tool for children

Scientists at University College London and Great Ormond Street Hospital collected anonymised medical records from cardiac centres around the world to find out which factors are associated with a higher risk of sudden death in children with HCM. They used this to develop a tool that means doctors can identify children with HCM who may need to be fitted with an implantable cardioverter defibrillator (ICD) which can shock the heart back into a normal rhythm if they experience a life-threatening abnormal heart rhythm. The new tool could also help to reassure families of those children with HCM who are found to be unlikely to experience a cardiac arrest. 

Our Associate Medical Director, Professor Jeremy Pearson, commented on the study:

“No parent should have to go through losing their child to HCM. By fine-tuning doctors’ ability to spot which children with this potentially deadly condition are most at risk of having a cardiac arrest, this discovery should save lives.

“HCM is inherited, and can devastate whole families before the condition is identified. Most people who have HCM are undiagnosed and suffer few, if any, symptoms. BHF research has uncovered many of the faulty genes underlying this deadly heart condition, enabling genetic screening so it can be spotted and people can receive the best treatments available.

“This research shows that we can now more effectively identify children at risk of a cardiac arrest from HCM and who will benefit from an implantable defibrillator.  However, there is more to be done. Only through more research can we find new drugs and therapies to improve the lives of children with living with life-threatening heart conditions.”

Meet Kulthumi, who participated in the study

Kulthumi, who has HCM

12-year-old Kulthumi 

12-year-old Kulthumi lives in Greater Manchester with her aunt Tunde and uncle Abi. She was diagnosed with a rare heart condition called cardiomyopathy when she was a baby. Heart problems are very common in Kulthumi’s family with several family members sadly passing away from similar conditions all in a very short space of time.

Kulthumi was one of over 1000 patients to be included in the research. Data from her medical records and heart tests like ECHO and ECG, was analysed alongside other patients and used to develop the prediction tool.

Several years ago Kulthumi came to Great Ormond Street Hospital to have an implantable cardioverter-defibrillator device (or ICD) fitted under her skin. It constantly monitors her heart rate and helps correct any abnormal heart rhythms.

Research group at GOSH outside hospital

The research team at Great Ormond Street Hospital. Pictured from left to right, Research nurse Ella Field, senior researcher Dr Juan Kaski, Kulthumi, lead researcher Dr Gabrielle Norrish.

Her Aunt Tunde explains, “The device is there to help monitor how she is doing. It helps reassure her and kicks in if there are any problems. We come to GOSH every month and the data on her heart rhythms is downloaded. Sometimes if they see a spike of activity the team ask what she has been doing and then we have to try to remember!”

Kulthumi, has a gift for languages. Tunde says, “For the last few years of primary school Kulthumi went to school in Spain. After only three weeks the headteacher told me she had never seen anyone pick up the language so quickly. Now Kulthumi is fluent.”

Kulthumi is now at secondary school where she has extra support because of her condition. “Her schools have always been very supportive. They make sure she doesn’t have to carry any books between lessons. Kulthumi gets breathless if she has to rush so she is allowed to leave classes a bit early to get to the next one on time.”

At home, Kulthumi also enjoys cooking and baking and loves playing the piano by ear. “She is anything but subdued even though she has had a very tough time, says Tunde. “She tends to just get on with things and has a great disposition. Her outlook makes me – as an adult – feel very inspired and think why should I worry about anything.”

Tunde adds, "Inherited cardiac conditions like this have a big effect on the whole family. They can cause anxiety and mental health problems as it’s such a lot to deal with. Heart problems like this are found all over the world but it’s something that people don’t talk about very much.

"Kulthumi really wants to raise awareness of her condition. She wants people to know its ok to talk about it and ask questions rather than assuming. We'd like to thank all the professionals who have helped care for Kulthumi as well as all our friends and family for their support".

Find out more what life with HCM is like