Three years ago, Bea, now 12, started experiencing a fast heart rate and shortness of breath. Despite her young age, she was able to communicate to her parents that something felt wrong. “My heart is pounding,” Bea told them. “My heart is beating in a funny pattern.”
Following genetic testing, Bea was diagnosed with arrhythmogenic cardiomyopathy (ACM), which she inherited from her father. Currently, doctors use heart scans and blood tests to monitor children with ACM. However, these tests often don’t tell us about the microscopic changes happening in the heart cells and can be stressful for people undergoing them.
A cheek swab that can identify the molecular changes of ACM
Bea is looked after by a team at Great Ormond Street Hospital (GOSH). As part of her check-ups there, she has been swabbed 4 times for Dr Angeliki Asimaki's vital research into developing a cheek swab test to monitor patients with ACM.
Amazingly, the molecular changes taking place in the heart cells of someone with ACM are mirrored inside their cheek cells. With the help of BHF funding, Dr Asimaki and her team are developing a non-invasive cheek swab test that can be used to spot these molecular patterns. This could make it much easier for Bea and children like her to have their condition monitored throughout their childhood and life.