A simple cheek-swab test may help detect a potentially fatal heart condition in children up to five years before conventional diagnosis, according to new research.
The condition, arrhythmogenic cardiomyopathy (ACM), is usually genetic and responsible for over 10% of sudden cardiac deaths in children. It occurs when abnormalities in proteins between heart cells disrupt the heart’s structure and electrical function, often striking without warning.
Researchers discovered that these protein abnormalities can also be detected in the lining of the cheek, allowing for early detection. The two-minute test was trialled at Great Ormond Street Hospital and St George’s, University of London, with 51 children aged three months to 18 years who were at known genetic risk. Swabs were taken every three to six months over seven years. Of the 10 children who developed ACM, eight showed abnormalities in their cheek swabs before conventional tests could detect the disease.
In a second group of 21 children with no known genetic risk, cheek swabs still identified abnormalities in five cases, suggesting broader potential for early detection.
Dr. Angeliki Asimaki, a cardiac morphology expert at St George’s, said the test is “risk-free and non-invasive” and offers “a window into microscopic changes happening in the heart.” Home test kits are now being developed, allowing children to swab their cheeks and post samples for analysis.
Symptoms of ACM can include palpitations, fainting, breathlessness, abnormal heart rhythms, and swelling, but often the disease remains undetected until it causes serious problems. In the UK, it affects around 1 in 10,000 people.
Dr. Sonya Babu-Narayan of the British Heart Foundation, which funded the research, said the test could “save lives” by identifying children who need early intervention or offering reassurance when results are normal.
This development marks a significant step toward early, non-invasive screening for a condition that can strike without warning, giving at-risk children and their families critical time to act.
