Andersen-Tawil syndrome
Andersen-Tawil syndrome is a rare genetic disorder that primarily affects the heart and muscles. It is characterized by a combination of symptoms, including irregular heartbeats (arrhythmias), muscle weakness, and distinctive facial features. The condition is caused by mutations in the KCNJ2 gene, which plays a crucial role in regulating potassium channels in cells.
Individuals with Andersen-Tawil syndrome may experience episodes of fainting or dizziness due to heart rhythm problems. Additionally, some may have skeletal abnormalities or developmental delays. Diagnosis typically involves genetic testing and monitoring of heart function to manage symptoms effectively.