New cheek swab test helping to monitor children with rare heart condition

A cheap and simple test is being developed which will allow quick and safe monitoring in children with arrhythmogenic cardiomyopathies (ACM).

ACM are a group of conditions where the cells in the heart muscle don’t stick together properly, causing the walls of the heart to become weak. ACM are usually genetic, and symptoms include palpitations, breathlessness, fainting and abnormal heart rhythms that could lead to sudden cardiac death.

Children with ACM are monitored regularly using a combination of several heart scans and blood tests, but these can paint an incomplete picture of the microscopic changes happening inside the heart.

Changes in the distribution of proteins within heart cells of a patient with ACM are mirrored in the cells inside their cheeks and therefore the new test can give a clearer picture of a patient’s risk of dangerous heart rhythms.

The research is being funded by the British Heart Foundation (BHF) and carried out at Great Ormond Street Hospital (GOSH) on patients with ACM. If effective, the test will be rolled out to hospitals across the country.

Bea, aged 10, and her family are taking part in the study as part of her regular ACM check-ups at GOSH. Three years ago Bea started experiencing symptoms of an unusually fast heart rhythm, called ventricular tachycardia (VT), including shortness of breath and dizziness.

She often mistook these symptoms for anxiety but had genetic testing for ACM because Bea’s father and several other family members were known to have a gene alteration that can cause the condition. Following the tests, she was diagnosed with ACM.

As part of her check-ups at GOSH, Bea has been swabbed for the research four times. Her younger brother is now also part of the study.

Bea’s mum Liz said: “The test is adding another layer of reassurance to the family that the condition is being monitored. We think it’s so important to take part in this research to improve how ACM is monitored and managed for children in the future.”

Bea now has an internal heart rhythm monitor fitted to alert her and her family when she is experiencing a dangerously fast heart rhythm.

Liz said: “Every time she experiences a symptom, a recording of her heart rhythm is sent to GOSH and reviewed within an hour, which gives us some reassurance. It saves her having to go for overnight monitoring in hospital and missing school every time.”

“Aside from going in for regular check-ups at GOSH, we feel it’s really important to not let Bea’s condition get in the way of a normal childhood. She stays active by doing swimming and is in a weekly theatre school.”

Dr Angeliki Asimaki, Senior Lecturer at St George’s, University of London, who is leading the research, said:

“Our test is providing a much-needed window into the minute changes happening in the hearts of ACM patients, in a totally risk-free, non-invasive way.

“Doctors can be warned about which of their patients are most at risk of dangerous heart rhythms and other symptoms, allowing them to tailor treatment to ensure that each patient receives the best care for them. Patients, particularly children, have told us they hugely prefer the speed and ease of the cotton bud cheek swab compared to alternatives like blood tests.”

Professor Bryan Williams, Chief Scientific and Medical Officer at the British Heart Foundation, who are funding the research, said:

“People with ACM often live with day-to-day worries because of the unpredictable nature of their condition, in which dangerous symptoms can start with little to no warning. The simple monitoring test being developed by Dr Asimaki and her team has the potential to provide reassurance to patients and their families that their condition is being kept under a watchful eye by medical professionals.”

The team are also looking into developing a cheek swab test for diagnosing ACM and will be researching how the test can be used to monitor women with ACM throughout their pregnancies.