Overview
- In a longitudinal cohort of 51 genetically at‑risk children swabbed every three to six months, 10 later developed arrhythmogenic cardiomyopathy and eight had buccal‑cell protein abnormalities detected before clinical diagnosis.
- Swab findings appeared as early as five years before conventional scans and other diagnostics confirmed disease.
- A control group of 21 children without known genetic risk had five swabs showing abnormalities, highlighting the need to establish sensitivity and specificity.
- The research, funded by the British Heart Foundation, was presented at the European Society of Cardiology Congress in Madrid.
- Investigators describe the test as non‑invasive and are developing at‑home swab kits, with larger validation studies required before clinical adoption.