A simple cheek-swab test can identify children with a potentially deadly heart condition, five years before they would normally be diagnosed, research has found.
Arrhythmogenic cardiomyopathy (ACM), which is typically genetic, is responsible for more than 10% of sudden cardiac deaths in children.
The condition is caused by abnormalities in the proteins between heart cells, which lead to problems in the structure and electrical activity of the heart. ACM can often develop and strike without warning.
But research shows abnormalities in the proteins can also be seen in the lining of the cheeks, which can reveal what is happening in the heart. Now doctors have developed a two-minute cheek swab to detect ACM up to half a decade before a child may otherwise be diagnosed.
They revealed details of the test at the European Society of Cardiology congress in Madrid, the world’s largest heart conference.
Experts at Great Ormond Street hospital and City St George’s, University of London trialled the test in 51 children between three months and 18 years old with a known genetic risk of ACM.
They were given cheek swabs every three to six months over a seven-year period. Of the group, 10 went on to develop ACM and eight of the 10 showed abnormalities that were picked up by cheek swabs before other tests.
The experts also studied another group of 21 children with no known genetic risk of ACM. Of these, five had abnormalities picked up by cheek swabs.
The research presented in Madrid also found that the swabs revealed changes in the youngsters up to five years before they were diagnosed.
Diagnosis of ACM was confirmed with scans and tests, with researchers suggesting a swab could be an extra step to aid early detection.
Joanna Jager, of City St George’s, University of London, said: “There is a real need for a quick and easy test, to flag suspected ACM, which can then be confirmed by hospital tests.”
In the UK, it is estimated that about one in 10,000 people in the UK have ACM. Symptoms can include heart palpitations, fainting, breathlessness, abnormal heart rhythms and swelling in the stomach, legs or ankles.
Researchers are now developing swab kits that can be used at home and the samples sent away for analysis.
Dr Angeliki Asimaki, a reader in cardiac morphology and sudden death at the school of health and medical sciences at City St George’s, University of London, 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. Patients, particularly children, have told us they hugely prefer the speed and ease of a cheek swab to alternatives such as blood tests.
“We are currently developing test kits which would allow children to do cheek swabs at home and post them off to researchers for analysis.”
Dr Sonya Babu-Narayan, the clinical director of the British Heart Foundation, which funded the research, said: “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.
“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.”
