A simple cheek-swab test may be able to detect a potentially fatal heart condition in children up to five years before conventional diagnosis, new research suggests.
The condition, arrhythmogenic cardiomyopathy (ACM), is often genetic and responsible for over 10% of sudden cardiac deaths in children. It arises from abnormalities in the proteins between heart cells, which disrupt both the structure and electrical activity of the heart. ACM can develop silently and strike without warning.
Researchers discovered that these protein abnormalities can also be detected in the cells lining the cheeks, paving the way for a two-minute, non-invasive test. The findings were presented at the European Society of Cardiology congress in Madrid.
The test was trialled in 51 children aged three months to 18 years with a known genetic risk of ACM. Over seven years, children were given cheek swabs every three to six months. Of the 10 children who later developed ACM, eight showed early abnormalities detectable via cheek swabs. Another group of 21 children with no known genetic risk also showed early abnormalities in five cases.
Dr. Angeliki Asimaki from St George’s, University of London, said the test provides a “window into microscopic changes happening in the heart” and is completely risk-free. The team is now developing home test kits, allowing children to perform the swab and send samples for analysis.
Symptoms of ACM can include palpitations, fainting, breathlessness, abnormal heart rhythms, and swelling in the stomach, legs, or ankles. In the UK, approximately 1 in 10,000 people are affected by the condition.
Dr. Sonya Babu-Narayan, clinical director of the British Heart Foundation, which funded the research, said: “This kind of 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 test results.”
The study highlights the potential of a quick, non-invasive approach to save lives by identifying high-risk children long before traditional tests would detect the disease.
