Genomic deletions upstream of PITX2 are strongly associated with atrial fibrillation, the most common cardiac arrhythmia. Here, the authors report that ectopic PITX2 expression dosage-dependently disrupts pacemaker cell state and function, and atrial rhythm, linking chromatin conformation of the PITX2 locus to both sinus node dysfunction and atrial fibrillation.
- Lieve E. van der Maarel
- M. Ridwane Mungroo
- Vincent M. Christoffels
