‘Two-minute’ cheek swab could detect deadly heart condition in children, experts say
A new ‘two-minute’ cheek swap could help detect a rare but deadly heart condition in children earlier, researchers say.
Listen to this article
The new test for arrhythmogenic cardiomyopathy (ACM) has been studied at City St George’s, University of London.
Experts hope that the swab, which is less invasive and painful than traditional blood tests, could help facilitate earlier detection of the disease responsible for 10% of sudden cardiac deaths in youngsters.
ACM means the proteins that usually hold the heart muscle together are abnormal.
This defect causes muscle cells to die before being replaced by scar tissue and fatty cells.
After promising results, researchers are now developing swab kits that can be done at home and sent away for analysis.
The early-stage study included 51 children from the age of three months to 18 years with a known genetic risk of ACM.
Researchers found the swabs revealed changes in the youngsters up to five years before they were diagnosed.
The participants were given cheek swabs every three to six months.
Of the group, 10 went on to develop ACM and eight of those patients showed abnormalities that were picked up by cheek swabs before other tests.
The study also included another group of 21 children with no known genetic risk of ACM.
Of these, five had abnormalities picked up by cheek swabs.
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."
Dr Angeliki Asimaki, 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."
Consultant cardiologist Dr Sonya Babu-Narayan, clinical director at BHF, the funder of the study which is being presented at the European Society of Cardiology Congress in Madrid, 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."
Experts warn ACM has the "potential to develop and strike without warning".
It is estimated that around one in every 10,000 people in the UK has ACM.
Symptoms can include heart palpitations, fainting, breathlessness, abnormal heart rhythms and swelling in the tummy, legs or ankles.