A simple cheek-swab test may allow doctors to detect a potentially fatal heart condition in children up to five years before traditional methods, according to new research.
The condition, arrhythmogenic cardiomyopathy (ACM), is often genetic and contributes to 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, sometimes striking without warning.
Researchers at Great Ormond Street Hospital and St George’s, University of London have developed a two-minute cheek swab capable of identifying these protein abnormalities. Trials involved 51 children aged from three months to 18 years with a known genetic risk of ACM. Over a seven-year period, the children were swabbed every three to six months. Of the 10 who later developed ACM, eight showed early abnormalities detectable via the swabs.
A further trial of 21 children without a known genetic risk also revealed abnormalities in five participants, suggesting the test could help flag previously unidentified risks.
Dr. Angeliki Asimaki, a lead researcher, said the test is “risk-free and non-invasive” and offers a “window into microscopic changes happening in the heart.” Researchers are now working on home test kits that would allow children to perform the swabs themselves and send the samples for analysis.
Symptoms of ACM can include heart palpitations, fainting, breathlessness, abnormal heart rhythms, and swelling in the legs or abdomen, but many cases go unnoticed until a serious event occurs. In the UK, approximately 1 in 10,000 people are affected by the condition.
Dr. Sonya Babu-Narayan of the British Heart Foundation, which funded the study, emphasized the potential life-saving impact of early detection: “This 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 results.”
The findings were presented at the European Society of Cardiology congress in Madrid, highlighting a promising advance in early cardiac care for children at risk of sudden heart conditions.
