Innovative Cheek Swab Test Enables Early Detection of Potentially Fatal Heart Condition in Children

Recent research presented at the European Society of Cardiology's annual congress in Madrid highlights a groundbreaking, non-invasive method for early identification of arrhythmogenic cardiomyopathy (ACM) in children through a simple cheek swab. ACM, a genetic heart disorder responsible for over 10% of sudden cardiac deaths among minors, stems from protein abnormalities in heart cells that disrupt the heart's structure and electrical function.

The study involved 51 children and young people aged from three months to 18 years, all at genetic risk for ACM. Participants underwent regular cheek swabs every three to six months. Remarkably, the investigation found that 10 of these children developed ACM, with eight exhibiting detectable abnormalities in their cheek lining up to five years before traditional diagnostic tests identified heart issues.

Additionally, in a separate group of 21 children showing early signs of ACM without confirmed genetic causes, five displayed abnormal cheek swabs prior to diagnosis. These findings suggest that the cheek cell analysis can reveal early changes associated with ACM, offering a window of 1.5 to 5 years ahead of clinical diagnosis.

Early detection via this method could revolutionize clinical approaches, enabling healthcare providers to intervene sooner and potentially prevent sudden cardiac arrest. The current diagnostic process for ACM involves complex tests such as ECGs, echocardiograms, cardiac MRIs, and genetic testing. The simplicity and safety of the cheek swab make it an attractive screening tool, especially since identifying the early stages of ACM remains challenging.

Researchers have known for over a decade that protein abnormalities linked to ACM manifest in cheek cells, but this study emphasizes its potential as a proactive screening technique. Dr. Angeliki Asimaki from City St George's, University of London, who led the research, emphasized that the test’s non-invasive nature and quick procedure make it preferable for children, with the added goal of developing at-home testing kits.

While the initial results are promising, larger studies are planned. Nearly 150 children are currently being screened by researchers led by Professor Juan Pablo Kaski at Great Ormond Street Hospital. This approach could significantly improve early diagnosis and treatment, ultimately saving lives by preventing sudden cardiac death. Experts stress that increasing awareness and early testing for children with a family history of ACM is crucial, given that such children have a 50/50 chance of carrying the gene but may never develop the disease.

In summary, a simple cheek swab offers a fast, safe, and potentially life-saving method to detect ACM early, marking a new era in pediatric cardiac care and risk assessment.