Quick Cheek Swab Test Detects Deadly Heart Condition in Children

A simple cheek-swab test has shown promise in identifying children with the potentially deadly heart condition known as arrhythmogenic cardiomyopathy (ACM), up to five years before a conventional diagnosis would typically be made. This breakthrough research was presented at the European Society of Cardiology congress in Madrid, which is recognized as the world’s largest heart conference.

ACM, primarily genetic in nature, is responsible for more than 10% of sudden cardiac deaths in children. It results from abnormalities in proteins that connect heart cells, leading to structural and electrical issues within the heart. The condition often develops without warning, making early detection crucial. Researchers discovered that changes in these proteins can be detected in the cheek lining, offering a non-invasive method to monitor heart health.

Doctors from Great Ormond Street Hospital and City St George’s, University of London conducted trials involving 51 children aged between three months and 18 years who were known to be at genetic risk for ACM. The participants underwent cheek swab tests every three to six months over a span of seven years. Out of this group, 10 children developed ACM, and 8 of them exhibited detectable abnormalities in their cheek swabs before more invasive tests confirmed their condition.

The study also included a second group of 21 children who had no known genetic risk. Among these, cheek swabs identified abnormalities in 5 children, highlighting the test’s potential utility in broader screenings. The findings suggest that these swabs can reveal changes up to five years prior to formal diagnosis, which is typically confirmed through scans and other tests.

Joanna Jager, a researcher at City St George’s, emphasized the importance of a quick and straightforward test to flag suspected cases of ACM. “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, estimates suggest that approximately one in 10,000 individuals are affected by ACM. Symptoms can include heart palpitations, fainting, breathlessness, abnormal heart rhythms, and swelling in the stomach, legs, or ankles. Researchers are now working on developing home test kits that would enable parents to collect cheek swab samples from their children and send them for analysis, making the process even more accessible.

Dr. Angeliki Asimaki, a reader in cardiac morphology and sudden death at City St George’s, described the test as “providing a window into microscopic changes happening in the heart,” and noted that it is completely risk-free and non-invasive. “This has the potential to provide accurate and timely diagnosis of ACM, which could ultimately save lives,” she added. The preference for a cheek swab over more invasive methods such as blood tests has been echoed by patients, especially children, who appreciate the speed and ease of the procedure.

Dr. Sonya Babu-Narayan, clinical director of the British Heart Foundation, which funded the research, highlighted the critical nature of early diagnosis. “Arrhythmogenic cardiomyopathy has the potential to develop and strike without warning and sadly can risk sudden death in children,” she mentioned. “This kind of simple, pain-free cheek swab test could identify children in the early stages of ACM who need extra care or provide reassurance to at-risk children and their families with normal test results.”

The innovative research indicates that a simple cheek swab may revolutionize the approach to detecting ACM, safeguarding the health and lives of children at risk. As the development of home-testing kits progresses, families may soon have a powerful tool for early detection and peace of mind.