A simple, two-minute cheek-swab test may be able to identify children at risk of a potentially fatal heart condition up to five years before standard diagnosis, new research suggests.
The condition, arrhythmogenic cardiomyopathy (ACM), is genetic and accounts for more than 10% of sudden cardiac deaths in children. ACM occurs when abnormalities in the proteins between heart cells disrupt the heart’s structure and electrical signals, often striking without warning.
Researchers at Great Ormond Street Hospital and St George’s, University of London found that the same protein changes can be detected in the lining of the cheek, leading to the development of a fast, non-invasive test.
In a study of 51 children with a known genetic risk of ACM, cheek swabs were taken every three to six months over seven years. Of the 10 children who went on to develop ACM, eight showed abnormalities in the swabs before other diagnostic tests. A separate trial of 21 children with no known risk also revealed early signs of ACM in five cases.
Dr. Angeliki Asimaki, a lead researcher, said: “Our test provides a window into microscopic changes happening in the heart, and it is totally risk-free and non-invasive. This could allow for accurate and timely diagnosis of ACM, potentially saving lives.”
Home test kits are now being developed so that children can take cheek swabs at home and send them for analysis.
Dr. Sonya Babu-Narayan, clinical director of the British Heart Foundation, which funded the research, added: “This simple, pain-free test could identify children who need early care or reassure families when results are normal.”
In the UK, around one in 10,000 people are estimated to have ACM, which can cause palpitations, fainting, breathlessness, abnormal rhythms, and swelling in the legs, stomach, or ankles. Early detection could be key to preventing sudden cardiac deaths in children.
