A simple two-minute cheek-swab test could identify children at risk of a potentially deadly heart condition up to five years before conventional diagnosis, new research suggests.
The condition, arrhythmogenic cardiomyopathy (ACM), is usually genetic and contributes to over 10% of sudden cardiac deaths in children. It occurs when protein abnormalities between heart cells disrupt both the heart’s structure and its electrical activity, often striking without warning.
Researchers from Great Ormond Street Hospital and St George’s, University of London discovered that these protein abnormalities can also be detected in the lining of the cheeks. The test was trialled in 51 children aged three months to 18 years who had a known genetic risk of ACM. Over a seven-year period, the children had cheek swabs every three to six months.
Of the 10 children who later developed ACM, eight showed abnormalities on the swabs before traditional tests detected the condition. A separate group of 21 children without known risk also showed unexpected abnormalities in five cases.
Dr. Angeliki Asimaki, a cardiac morphology specialist at St George’s, said the test offers “a window into microscopic changes happening in the heart” and is “totally risk-free and non-invasive.” Researchers are now developing kits that children can use at home, sending samples to labs for analysis.
Joanna Jager, from St George’s, said: “There is a real need for a quick and easy test to flag suspected ACM, which can then be confirmed by hospital tests.”
In the UK, ACM affects about one in 10,000 people. Symptoms can include palpitations, fainting, breathlessness, abnormal heart rhythms, and swelling in the legs, stomach, or ankles.
Dr. Sonya Babu-Narayan, clinical director at the British Heart Foundation, which funded the research, added: “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.”
If widely implemented, this cheek-swab test could become a critical tool in preventing sudden cardiac deaths in children.
