Experts at City St George’s, University of London and Great Ormond Street Hospital have developed a two-minute cheek swab that could save children from a fatal heart condition.
The test helps detect arrhythmogenic cardiomyopathy (ACM), a rare genetic heart condition, nearly five years ahead of diagnosis by other hospital tests.
The condition is a result of protein abnormalities among the heart cells that disturb the structure and electrical activity of the heart.
Estimates show that one in 10,000 people in the UK suffer from ACM.
The disorder causes ten per cent of sudden cardiac deaths in youngsters.
It can develop and attack the patients unexpectedly, with symptoms like heart palpitations, fainting, breathlessness, abnormal heart rhythms, and swelling in the stomach, legs, or ankles.
As per the study, the protein abnormalities in the heart cells is reflected on the cheek lining, leading to early diagnosis.
The seven-year-long study was trialled among 51 children between three months to eighteen years of age.
The children were given cheek swabs every three to six months for seven years.
The new findings were revealed at the European Society of Cardiology congress in Madrid.
“There is a real need for a quick and easy test, to flag suspected ACM, which can then be confirmed by hospital tests,” said Joanna Jager, of City St George’s, University of London.
Dr Angeliki Asimaki, a cardiologist 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.”
“We are currently developing test kits which would allow children to do cheek swabs at home and post them off to researchers for analysis,” she added.
“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,” said Dr Sonya Babu-Narayan, the clinical director of the British Heart Foundation, which funded the research.
