The swab test can identify children with potentially fatal heart disease, finds the study | Children’s health
A simple cheeky test can identify children with potentially fatal heart disease, five years before not being diagnosed, revealed that research has revealed.
Arhythnic cardiomyopathy (ACM), which is generally genetic, is responsible for more than 10% of sudden heart deaths in children.
The condition is caused by anomalies in proteins between heart cells, which causes problems in the structure and electrical activity of the heart. ACM can often develop and strike without warning.
But research shows that protein anomalies can also be observed in the cheeks lining, which can reveal what is happening in the heart. Doctors have now developed a two-minute cheek to detect ACM up to half a second before a child could be diagnosed.
They revealed details on the test at the Congress of the European Cardiology Society in Madrid, the largest conference of the heart in the world.
Experts from Great Ormond Street Hospital and City St George’s, University of London, tested the test in 51 children between three months and 18 years old with a known genetic risk of ACM.
They received cheese swabs every three to six months over a period of seven years. Among the group, 10 continued to develop ACM and eight of the 10 showed anomalies that have been picked up by cheese swabs before other tests.
Experts also studied another group of 21 children without known genetic risk of ACM. Among these, five had anomalies picked up by cheeky swabs.
The research presented in Madrid also revealed that the swabs have revealed changes among young people up to five years before being diagnosed.
The diagnosis of ACM has been confirmed by scans and tests, researchers suggesting that a swab could be an additional step to help early detection.
Joanna Jager, from City St George’s, University of London, said: “There is a real need for a quick and easy test, to report ACM suspected, which can then be confirmed by hospital tests.”
In the United Kingdom, it is estimated that around one in 10,000 in the United Kingdom has an ACM. Symptoms may include heart palpitations, fainting, shortness of breath, abnormal heart rhythms and swelling in the stomach, legs or ankles.
Researchers are now developing swab kits that can be used at home and samples sent for analysis.
Dr. Angeliki Asimaki, reader in cardiac morphology and sudden death at the School of Health and Medical Sciences of City St George’s, University of London, said: “Our test provides a window on microscopic changes that occur in the heart, and it is completely risk -free and not invasive.
“This has the potential to provide a precise and appropriate diagnosis of the ACM, which could ultimately save lives. Patients, especially children, told us that they prefer a lot the speed and ease of swallowing cheeks on alternatives such as blood tests.
“We are currently developing test kits that would allow children to make homeless cheeks and publish them for researchers for analysis.”
Dr. Sonya Babu-Narayan, Clinical Director of British Heart Foundation, who funded research, said: “Arhythmogenic cardiomyopathy has the potential to develop and strike without warning and can unfortunately risk sudden death in children, it is therefore important that research helps us to discover how to diagnose it early.
“This type of simple and painless swab test could identify children in the early stages of ACM who need additional care, or reassure themselves to children at risk and their families with normal test results.”
