Researchers report that cheek swabs can capture early microscopic changes of ACM, offering a non-invasive path to earlier diagnosis and intervention.
Arrhythmogenic cardiomyopathy (ACM) remains one of the most challenging inherited cardiac conditions to detect early, particularly in children. A new study funded by the British Heart Foundation suggests that a simple cheek swab may identify ACM years before routine cardiac testing, offering a non-invasive diagnostic option that could help prevent sudden cardiac death.
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, lead researcher of ACM cheek swab, emphasized the disease’s severity.
“Arrhythmogenic cardiomyopathy, or ACM, is a major cause of sudden death in all populations of the world,” she explained, noting that its incidence may be twice as common as once believed. “Originally, we believed that it affects an average of 1 in 5,000 individuals, but our recent advances in diagnosis are showing that the incidence is actually closer to 1 in 2,000 individuals.”
ACM’s wide phenotypic range and reduced genetic penetrance—combined with the fact that its first symptom may be sudden death—have long made early diagnosis difficult. Asimaki described the underlying biology:
“Over 60% of our patients bear one or more mutations in genes encoding for desmosomal proteins. Desmosomes are intercellular adhesion junctions, in essence, mechanical bridges, which provide the heart with strength.”
Traditional diagnosis relies on ECGs, echocardiography, cardiac MRI, and sometimes heart biopsies—procedures that may fail to detect early disease.
“We showed that cells from the buccal epithelium…show the same protein redistributions that we see in the heart.”
In the longitudinal study following more than 190 genetically at-risk children, cheek swabs detected abnormalities 1.5 to 5 years before clinical diagnosis. Asimaki explained, “We can pick up which children are going to go on to develop ACM by analysis of a simple cheek smear before the traditional cardiac investigations can do so. Our test provides a window into microscopic changes happening in the heart, and it is totally risk-free and non-invasive… Patients, particularly children, have told us they hugely prefer the speed and ease of a cheek swab to alternatives such as blood tests.”
While early data are promising, the press release noted that larger trials are still needed. Still, the potential impact is significant: earlier diagnosis, targeted monitoring, and lifesaving intervention for children at highest risk.
Reference:
Cheek swab test could identify children with potentially deadly heart condition. British Heart Foundation. Press release. September 1, 2025. Accessed December 9, 2025. https://www.bhf.org.uk/what-we-do/news-from-the-bhf/news-archive/2025/september/a-cheek-swab-test-could-identify-children-with-potentially-deadly-heart-condition
Access practical, evidence-based guidance to support better care for our youngest patients. Join our email list for the latest clinical updates.
