Scientific Article 🇬🇧 Directly KS related

Keeping up the beat of Kleefstra syndrome

person Giulia Bruna Marchetti, Federica Gaudioso, Camilla Meossi, Michela Mura, Carlo Agostoni, Cristina Gervasini, Valentina Massa, Laura Pezzoli, Maria Iascone, Donatella Milani

calendar_today Feb 7, 2026

Long QT syndrome is a rare, potentially fatal arrhythmia. This report describes the second known case of LQT in a patient with Kleefstra syndrome, suggesting a possible link between EHMT1 alterations and cardiac rhythm abnormalities. The authors emphasize EKG monitoring in KS and call for further research on EHMT1’s role in arrhythmias.