A groundbreaking study has found that a quick and painless cheek-swab test can detect a potentially deadly heart condition in children up to five years before traditional methods.
The condition, arrhythmogenic cardiomyopathy (ACM), is genetic in many cases and accounts for more than 10% of sudden cardiac deaths in children. It develops due to faulty proteins between heart cells, disrupting both structure and electrical activity. Often symptomless until it strikes, ACM can lead to fainting, palpitations, breathlessness, or sudden death.
Researchers at Great Ormond Street Hospital and City St George’s, University of London trialled the new test in 51 children aged between three months and 18 years who had a known genetic risk of ACM. Over seven years, 10 developed the condition, and in eight of those cases, cheek swabs detected abnormalities before other tests.
In a separate group of 21 children with no known genetic risk, swabs flagged abnormalities in five. Crucially, the test identified protein changes up to half a decade before standard diagnosis was possible.
Dr. Angeliki Asimaki, one of the lead researchers, said: “Our test provides a window into microscopic changes happening in the heart, and it is totally risk-free and non-invasive. This could ultimately save lives.”
The team is now developing at-home swab kits, allowing families to collect samples and post them for analysis. Patients and parents have already expressed preference for the speed and simplicity of swabs compared to blood tests.
Dr. Sonya Babu-Narayan of the British Heart Foundation, which funded the research, highlighted the importance: “This kind of simple, pain-free test could identify children in the early stages of ACM who need extra care, or provide reassurance to families.”
In the UK, around one in 10,000 people are thought to have ACM. With early detection now possible, researchers hope the swab test will become a vital tool in preventing tragic sudden deaths in children.
