A cheap and simple test developed with our funding has enabled rapid and safe monitoring of children with fatal heart conditions at Great Ormond Street Hospital. If proven effective, the test could soon be used to guide treatment nationwide, allowing doctors to act quickly to prevent sudden cardiac death.

Arrhythmogenic cardiomyopathy (ACM) is a group of conditions in which cells in the heart muscle do not adhere properly, weakening the heart’s walls. ACM is usually hereditary, and symptoms include palpitations, shortness of breath, fainting, and abnormal heart rhythms that can cause sudden cardiac death.

ACM is estimated to affect 1 in 1,000 people, and studies suggest that up to 25% of sudden cardiac deaths in children may be attributable to ACM. Currently, children with ACM are regularly monitored using a combination of several heart scans and blood tests, but these can still paint an incomplete picture of the subtle changes occurring within the heart. There is a gender.

A much-needed window to the soul

A new cheek swab test aims to give patients a clearer picture of their risk of dangerous heart rhythms and prevent sudden cardiac death. It would also make the monitoring process much faster for all involved.

Dr Angeliki Asimaki, a senior lecturer at St George’s, University of London, who led the study, said: “Our test provides a much-needed window into the subtle changes occurring in the hearts of ACM patients in a completely risk-free, non-invasive manner.

“Doctors can be alerted to which patients are most at risk for dangerous heart rhythms or other conditions, so they can tailor treatment to ensure each patient receives the best treatment. , children in particular have stated that they highly prefer the speed and ease of cheek swabs compared to alternatives such as blood tests.”

The test being developed by Dr. Ashimaki and his team takes advantage of a biological phenomenon in which changes in the distribution of proteins in the heart cells of ACM patients are reflected in the cells inside the cheeks.

By analyzing a patient’s cheek swab, doctors will be able to see inside the heart and monitor how the patient’s condition is changing. It can also help identify when a patient is experiencing a “hot phase” (when changes in proteins are associated with bouts of dangerous inflammation in the heart, putting patients at the highest risk of dangerous heart rhythms). is also helpful.

Providing a sense of security

The research team is already working with children at the Congenital Cardiovascular Disease Center at Great Ormond Street Hospital (GOSH) and adults at St George’s Hospital, led by co-investigator Professor Juan Pablo Caschi and his team. Monitoring ACM. If proven effective, the test could continue to be rolled out to hospitals across the country.

The test is also being used in research elsewhere in the UK and the Netherlands. Dr. Ashimaki and his colleagues will soon begin a study in several London hospitals using this test to monitor women with ACM throughout pregnancy.

Professor Brian Williams, Chief Scientific and Medical Officer, said: “ACM patients often live with daily worries because the condition is unpredictable and dangerous symptoms can begin with little or no warning.

“The simple monitoring test that Dr. Ashimaki and his team are developing could give patients and their families peace of mind that their condition is being monitored by medical professionals.”

The test has already shown promise in the clinic, and Dr. Ashimaki and her team are also considering developing a cheek swab test to diagnose ACM. ACM’s diagnostic cheek swab test greatly speeds up and simplifies the process.

If ACM patients are interested in participating in research, they can ask their clinical team to contact researchers at GOSH or St George’s.

Bee’s story

Ten-year-old Bea and her family are participating in this study as part of regular ACM testing at GOSH. Three years ago, Bea began experiencing symptoms of an abnormally fast heart rhythm called ventricular tachycardia (VT), including shortness of breath and dizziness.

She often mistook these symptoms for anxiety, but Bea’s father and several other family members were known to carry a genetic mutation that can cause the condition. I took an ACM genetic test. After testing, she was diagnosed with ACM.

As part of her medical checkup at GOSH, Bea had four swabs taken for Dr. Ashimaki’s research. Her younger brother is also currently participating in the research.

Bea’s mother, Liz, said: ‘This test has given our family added peace of mind that their condition is being monitored. We hope to improve the way we monitor and manage ACM for our children in the future. We believe it is extremely important to participate in this study.”

Bea now has a built-in heart rhythm monitor to alert her and her family if her heart rhythm is dangerously fast.

Liz says: “Every time she experiences symptoms, a recording of her heart rhythm is sent to GOSH and seen within an hour, which gives us some peace of mind.” , she no longer has to be monitored overnight in the hospital or miss school every time. ”

“Apart from regular check-ups at GOSH, we feel it is extremely important that Bea’s condition does not interfere with her normal childhood. , and I go to drama school every week.”

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