A new, simple cheek-swab test, funded by the British Heart Foundation and unveiled at the European Society of Cardiology Congress in Madrid on 1 September 2025, may detect arrhythmogenic cardiomyopathy (ACM) years before symptoms appear. ACM is a genetic disorder responsible for over 10 percent of sudden cardiac deaths in children, caused by abnormalities in the proteins connecting heart cells that disrupt heart structure and electrical function.
In the study, researchers from Great Ormond Street Hospital and St George’s, University of London monitored 51 children (aged three months to 18 years) with known genetic risk. Participants had cheek-swab samples taken every three to six months over several years. Of the ten who developed ACM, eight showed early protein abnormalities via the swab well before conventional diagnostic methods did. A separate group of 21 children without genetic risk also revealed early signs in five cases.
These changes were detectable between 1.5 and five years in advance of formal diagnosis. If validated in larger trials, this non-invasive, rapid test could enable earlier medical intervention and possibly home-based testing, offering a vital early-warning tool to help save young lives.
Last year, BIVDA were contacted by Dr Angeliki Asimaki, Reader in Cardiac Morphology and Sudden Death from the School of Health and Medical Sciences at City St George’s, University of London, who has led the research. We helped to introduce her to our members and the Health Innovation Network to help her test’s development.
We are therefore delighted by the promising results and look forward to the outcome of the larger trial to follow.
