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 physical features such as a broad forehead and low-set ears. The condition is caused by mutations in specific genes, most commonly the KCNJ2 gene, which plays a role in regulating electrical activity in the heart and muscles.
Individuals with Andersen-Tawil Syndrome may experience episodes of fainting or palpitations due to heart rhythm disturbances. The severity of symptoms can vary widely among affected individuals. Diagnosis typically involves genetic testing and monitoring of heart function, while treatment focuses on managing symptoms and preventing complications.