A groundbreaking study reveals that a simple cheek-swab test can identify children at risk for a potentially fatal heart condition known as arrhythmogenic cardiomyopathy (ACM). This test can detect abnormalities up to five years before a traditional diagnosis would typically occur. ACM, primarily genetic in nature, is responsible for over 10% of sudden cardiac deaths in children, highlighting the urgent need for early detection methods.
The condition arises from defects in the proteins that connect heart cells, which can lead to serious structural and electrical issues within the heart. Often, ACM develops suddenly, posing significant risks to young patients. Researchers have discovered that the same protein abnormalities present in the heart can also be detected in the cheek lining, allowing for an innovative testing approach.
At the recent European Society of Cardiology congress in Madrid, experts from Great Ormond Street Hospital and City St George’s, University of London, presented their findings. They conducted trials on 51 children aged between three months and 18 years who had a known genetic predisposition to ACM. These participants underwent cheek swab tests every three to six months over a seven-year period. Of the children studied, 10 developed ACM, and notably, eight of these cases showed detectable abnormalities in their cheek swabs before traditional diagnostic tests confirmed the condition.
The study also involved a control group of 21 children without a known genetic risk for ACM. Remarkably, five of these children exhibited abnormalities identified by the cheek swabs, further validating the test’s potential as an early detection tool. The research indicates that these swabs can reveal changes in children up to five years prior to an official diagnosis, which is typically confirmed through more invasive scans and tests.
Joanna Jager from City St George’s, University of London, emphasized the importance of having a quick and straightforward test to flag suspected ACM cases. “There is a real need for a quick and easy test, to flag suspected ACM, which can then be confirmed by hospital tests,” she stated.
In the UK, it is estimated that approximately one in every 10,000 individuals is affected by ACM. Symptoms may include heart palpitations, fainting, breathlessness, abnormal heart rhythms, and swelling in various parts of the body.
Researchers are now working on developing home-use swab kits, allowing families to collect samples conveniently and send them for analysis. Dr. Angeliki Asimaki, a reader in cardiac morphology and sudden death at City St George’s, noted, “Our test provides a window into microscopic changes happening in the heart, and it is totally risk-free and non-invasive.”
She highlighted that patients, particularly children, have expressed a preference for the speed and ease of a cheek swab compared to more traditional blood tests.
Dr. Sonya Babu-Narayan, Clinical Director of the British Heart Foundation, which funded the research, remarked on the critical nature of early diagnosis for ACM. “Arrhythmogenic cardiomyopathy has the potential to develop and strike without warning and sadly can risk sudden death in children, so it’s important that research helps us discover how to diagnose it early,” she said.
The findings from this study not only pave the way for more accessible testing options but also hold promise for saving lives through timely intervention and reassurance for families with at-risk children.
