A new study suggests that a simple cheek-swab test can identify children at risk of a potentially deadly heart condition up to five years before traditional diagnosis methods.
The condition, arrhythmogenic cardiomyopathy (ACM), is often genetic and accounts for more than 10% of sudden cardiac deaths in children. It arises from abnormalities in the proteins connecting heart cells, which can disrupt both the heart’s structure and its electrical activity, sometimes without warning.
Researchers from Great Ormond Street Hospital and St George’s, University of London have shown that these protein abnormalities can also be detected in the lining of the cheeks. Using this discovery, they developed a two-minute, non-invasive swab capable of spotting ACM long before other tests would normally diagnose it.
In trials, 51 children with a known genetic risk of ACM were swabbed every three to six months over seven years. Of the 10 who developed ACM, eight showed detectable changes in their cheek cells before any other diagnostic test picked up the condition. In a control group of 21 children with no known risk, cheek swabs identified abnormalities in five participants.
Dr. Angeliki Asimaki, a cardiac morphology expert at St George’s, said, “Our test provides a window into microscopic changes happening in the heart. It is totally risk-free and non-invasive and could allow for timely diagnosis, potentially saving lives.” Researchers are now developing home swab kits so children can collect samples safely and send them for analysis.
Symptoms of ACM can include heart palpitations, fainting, breathlessness, irregular heart rhythms, and swelling in the legs or abdomen, but many cases go unnoticed until serious events occur.
Dr. Sonya Babu-Narayan, clinical director at the British Heart Foundation, emphasized the importance of early detection: “This simple, pain-free cheek swab could identify children in the early stages who need extra care, or provide reassurance for at-risk children with normal results.”
The development of this swab marks a significant advance in non-invasive heart screening for children, offering hope for earlier intervention and prevention of sudden cardiac deaths.
