A new study has found that a simple cheek-swab test can identify children at risk of a potentially deadly heart condition up to five years before standard diagnosis methods would detect it.
The condition, arrhythmogenic cardiomyopathy (ACM), is typically genetic and responsible for more than 10% of sudden cardiac deaths in children. It occurs when abnormalities in the proteins between heart cells disrupt the heart’s structure and electrical activity, often striking without warning.
Researchers discovered that the same protein abnormalities affecting the heart can also be seen in the lining of the cheeks. Using this insight, doctors developed a two-minute, non-invasive swab to detect early signs of ACM. The results were presented at the European Society of Cardiology congress in Madrid.
In trials at Great Ormond Street Hospital and St George’s, University of London, 51 children with a known genetic risk of ACM were given cheek swabs every three to six months over seven years. Of the 10 children who later developed ACM, eight showed abnormal protein patterns in their cheek swabs before other tests could detect the disease. In a separate group of 21 children without known risk, five were found to have abnormalities.
Dr. Angeliki Asimaki, who led the research, said: “Our test provides a window into microscopic changes happening in the heart, and it is totally risk-free and non-invasive. This has the potential to provide accurate and timely diagnosis of ACM, which could ultimately save lives.”
Symptoms of ACM can include heart palpitations, fainting, breathlessness, abnormal heart rhythms, and swelling in the legs, stomach, or ankles. Researchers are now developing home test kits so children can perform cheek swabs themselves and send samples for analysis.
Dr. Sonya Babu-Narayan, clinical director at the British Heart Foundation, which funded the research, said: “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.”
With further validation, this approach could become a vital tool in preventing sudden cardiac deaths in children at risk of ACM.
