CHARACTERISATION OF THE 12-LEAD ECG IN PAEDIATRIC CARRIERS OF PLAKOPHILLIN-2 GENE VARIANTS
Anno:
2024
Background and aim The PKP2 gene encodes the desmosomal protein Plakophilin-2, vital for cellular adhesion between cardiomyocytes. It is associated with classical Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), a cardiac disorder that can cause malignant ventricular arrhythmias and sudden cardiac death in the young. The 12-lead electrocardiogram (ECG) is an…