A simple cheek-swab test could detect a potentially fatal heart condition in children up to five years before standard diagnosis, according to new research.
Arrhythmogenic cardiomyopathy (ACM), often genetic, accounts for more than 10% of sudden cardiac deaths in children. The condition arises from abnormalities in proteins between heart cells, which disrupt both the structure and electrical activity of the heart. ACM can develop silently, striking without warning.
Researchers at Great Ormond Street Hospital and St George’s, University of London discovered that these protein abnormalities can also appear in the cells lining the cheeks. Using this insight, they developed a two-minute, non-invasive swab that may flag ACM years earlier than conventional scans or tests.
The team trialled the test in 51 children aged three months to 18 years with a known genetic risk of ACM, taking swabs every three to six months over seven years. Of the 10 children who later developed ACM, eight showed abnormalities in their cheek swabs before diagnosis by other methods. In an additional group of 21 children without known risk, five showed similar protein changes.
“Our test provides a window into microscopic changes happening in the heart, and it is totally risk-free and non-invasive,” said Dr Angeliki Asimaki, a cardiac morphology expert at St George’s. “This has the potential to provide accurate and timely diagnosis of ACM, which could ultimately save lives.”
The research team is now developing home testing kits, allowing children to take cheek swabs themselves and send them for analysis.
Symptoms of ACM can include palpitations, fainting, breathlessness, abnormal heart rhythms, and swelling in the stomach or limbs, but many cases go unnoticed until serious complications occur. In the UK, the condition affects roughly 1 in 10,000 people.
Dr Sonya Babu-Narayan, clinical director at the British Heart Foundation, which funded the research, said: “This simple, pain-free cheek swab test could identify children in the early stages of ACM who need extra care, or provide reassurance to at-risk children and their families with normal results.”
The development of this swab test marks a major step forward in early detection and prevention of sudden cardiac deaths in children.
