A simple cheek swab may soon transform the way doctors detect arrhythmogenic cardiomyopathy (ACM), a genetic heart condition responsible for more than 10% of sudden cardiac deaths in children.
Researchers from Great Ormond Street Hospital and St George’s, University of London unveiled findings at the European Society of Cardiology congress in Madrid, showing that the two-minute swab can reveal signs of ACM up to five years before current diagnostic methods.
The condition, caused by protein abnormalities between heart cells, disrupts both the structure and electrical activity of the heart. These microscopic changes can also be observed in the lining of the cheek, allowing a quick and non-invasive test to provide early warning.
In a study of 51 children with a known genetic risk, cheek swabs taken every three to six months over seven years revealed abnormalities in eight of the 10 children who later developed ACM—well before traditional scans and tests confirmed the disease. Among another group of 21 children with no known genetic risk, five showed early signs through the swab.
Dr. Angeliki Asimaki of St George’s described the test as a “window into microscopic changes happening in the heart,” adding that it could save lives by flagging at-risk children sooner. Researchers are now working on home-use kits that would allow parents to send samples for analysis by post.
ACM affects an estimated one in 10,000 people in the UK. Symptoms include palpitations, fainting, breathlessness, abnormal rhythms, and swelling in the legs, stomach, or ankles. Because it can develop silently, early detection is vital.
Dr. Sonya Babu-Narayan of the British Heart Foundation, which funded the research, said: “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 further trials succeed, the cheek swab could become a powerful new tool in the fight against sudden cardiac death in young people.
