A revolutionary cheek-swab test can identify children at risk of a potentially fatal heart condition, known as arrhythmogenic cardiomyopathy (ACM), up to five years before they would typically receive a diagnosis. This groundbreaking research highlights the potential of a simple, non-invasive method to detect ACM, a genetic condition that accounts for over 10% of sudden cardiac deaths in children.
ACM is characterized by abnormalities in the proteins between heart cells, leading to structural and electrical issues within the heart. These changes can occur without warning, making early detection crucial. Remarkably, researchers found that these same protein abnormalities can be detected in cheek cells, presenting an opportunity for early intervention.
At the recent European Society of Cardiology congress in Madrid, experts from Great Ormond Street Hospital and City St George’s, University of London unveiled the results of their study involving 51 children aged between three months and 18 years who had a known genetic risk of ACM. Participants underwent cheek swab tests every three to six months over a seven-year period.
Out of this group, 10 children developed ACM, and importantly, eight of them exhibited detectable abnormalities in their cheek swabs before traditional diagnostic tests confirmed the condition. The study also included another group of 21 children without a known genetic risk for ACM, where five were found to have abnormalities identified through the cheek swab method.
The research demonstrated that these swabs could indicate changes in heart health up to five years prior to formal diagnosis. Confirmatory tests and scans were used to validate the ACM diagnosis, suggesting that this swab could serve as a valuable preliminary screening tool.
Dr. Angeliki Asimaki, a reader in cardiac morphology and sudden death at City St George’s, explained the test’s significance: “Our test provides a window into microscopic changes happening in the heart, and it is totally risk-free and non-invasive.” She noted that patients, especially children, prefer the simplicity and speed of a cheek swab over more invasive methods, such as blood tests.
Researchers are currently developing home testing kits that will allow families to conduct cheek swabs and send samples for analysis. This innovation aims to make early detection even more accessible.
Dr. Sonya Babu-Narayan, clinical director of the British Heart Foundation, which supported the research, emphasized the importance of early diagnosis. “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 stated.
In the UK, it is estimated that approximately one in 10,000 people are affected by ACM. Symptoms can include heart palpitations, fainting, breathlessness, abnormal heart rhythms, and swelling in the stomach, legs, or ankles. The introduction of a simple, pain-free cheek swab test could not only identify children in the early stages of ACM who require additional care but also provide peace of mind for families with normal test results.
As researchers continue to refine this test, it holds the promise of transforming the early detection landscape for ACM and potentially saving lives.
