SHOX2

Management

A genetic predisposition involving the SHOX2 non-coding region (3’UTR variant) defined a specific patient cohort with early-onset atrial fibrillation and delayed conduction of the sinoatrial impulse to the ventricles with prolonged PR interval. Significantly reduced SHOX2 expression levels were demonstrated in atrial tissue from patients with atrial fibrillation compared to controls, indicating that reduced SHOX2 expression caused by rare coding and regulatory variants contribute to the observed arrhythmic phenotype of atrial fibrillation with prolonged PR interval.