A simple two-minute cheek-swab test may be able to 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 accounts for over 10% of sudden cardiac deaths in children. It occurs when abnormalities in the proteins between heart cells disrupt both the heart’s structure and its electrical activity. Often, ACM develops silently, striking without warning.
Researchers from Great Ormond Street Hospital and St George’s, University of London discovered that these protein abnormalities can also appear in cells from the cheek lining. This led to the development of a fast, non-invasive swab test that could serve as an early warning system.
In a study of 51 children aged three months to 18 years with a known genetic risk, swabs taken every three to six months over seven years flagged abnormalities in eight of the 10 children who later developed ACM—well before other tests detected the condition. In a separate group of 21 children without known risk, five showed abnormal swab results.
Dr. Angeliki Asimaki, a reader in cardiac morphology and sudden death at St George’s, said the test offers a “risk-free window into microscopic changes happening in the heart” and could allow for timely intervention. Researchers are now creating home test kits, enabling children to perform swabs and send samples for analysis.
Symptoms of ACM can include palpitations, fainting, shortness of breath, irregular heart rhythms, and swelling in the legs or stomach. In the UK, roughly 1 in 10,000 people are estimated to have the condition.
Dr. Sonya Babu-Narayan, clinical director at the British Heart Foundation, said the test could be lifesaving. “A simple, pain-free cheek swab could identify children in the early stages who need extra care or reassure families if results are normal,” she explained.
This breakthrough highlights a potential shift in early detection and preventative care for children at risk of sudden cardiac death.
