A simple cheek-swab test may allow doctors to identify children at risk of a potentially fatal heart condition up to five years before traditional diagnosis, new research suggests.
The condition, arrhythmogenic cardiomyopathy (ACM), is typically genetic and accounts for more than 10% of sudden cardiac deaths in children. It occurs when abnormalities in the proteins connecting heart cells disrupt the heart’s structure and electrical activity, often developing without warning.
Researchers at Great Ormond Street Hospital and St George’s, University of London discovered that these protein abnormalities are also present in the lining of the cheek. This led to the development of a two-minute swab test that could flag ACM early.
In trials involving 51 children aged from three months to 18 years with a known genetic risk, cheek swabs identified abnormalities in eight of the 10 children who later developed ACM—well before other tests confirmed the condition. A further study of 21 children with no known risk detected changes in five participants.
“Our test provides a window into microscopic changes happening in the heart and is completely risk-free and non-invasive,” said Dr Angeliki Asimaki, one of the study authors. Researchers are now working on kits that can be used at home, allowing parents to post samples for analysis.
Symptoms of ACM can include heart palpitations, fainting, breathlessness, abnormal heart rhythms, and swelling in the legs or stomach, though many children show no early signs. In the UK, roughly 1 in 10,000 people are affected.
Dr Sonya Babu-Narayan, clinical director at the British Heart Foundation, highlighted the test’s life-saving potential: “A simple, pain-free cheek swab 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.”
If widely implemented, this quick and non-invasive test could become a vital tool in preventing sudden cardiac deaths in children.
