A simple cheek-swab test could help identify children at risk of arrhythmogenic cardiomyopathy (ACM) years before traditional diagnostic methods, new research suggests.
ACM is a genetic heart condition responsible for more than 10% of sudden cardiac deaths in children. The disease stems from abnormalities in the proteins between heart cells, leading to structural weakness and dangerous electrical activity. It often develops without symptoms, making early detection critical.
Researchers at Great Ormond Street Hospital and St George’s, University of London have found that the same protein abnormalities seen in the heart can also be detected in cheek cells. By trialling cheek swabs in 51 children aged three months to 18 years with a genetic risk of ACM, the team tracked changes over seven years. Ten of the children later developed the condition, with eight showing abnormalities in swabs before any other test picked it up—sometimes as early as five years in advance.
A separate study of 21 children without known genetic risk revealed that five also showed abnormalities through cheek swabs, highlighting its potential use as a broad screening tool.
Dr. Angeliki Asimaki, one of the study leaders, described the test as “totally risk-free and non-invasive”, offering a glimpse into early microscopic heart changes. Meanwhile, Dr. Sonya Babu-Narayan of the British Heart Foundation, which funded the research, said the approach could save lives by identifying children who need extra care while providing reassurance to families with normal results.
With ACM affecting roughly 1 in 10,000 people in the UK, symptoms can range from palpitations and fainting to abnormal rhythms and swelling. Researchers are now working on home-use kits, allowing children to perform cheek swabs themselves and post samples for analysis.
Experts say this innovation could become a vital tool in safeguarding children from one of the most unpredictable and fatal heart conditions.
