Andersen-Tawil syndrome synonyms

Andersen-Tawil syndrome synonyms:

Andersen-Tawil syndrome, also known as Long QT syndrome type 7, is a rare genetic disorder that affects multiple systems in the body. It is characterized by a triad of symptoms including periodic paralysis, cardiac arrhythmias, and distinctive facial features. This condition is caused by mutations in the KCNJ2 gene, which is responsible for encoding a protein involved in the regulation of potassium channels in the heart and skeletal muscles.

While Andersen-Tawil syndrome is the primary term used to describe this condition, there are a few other synonyms that are sometimes used:

• Long QT syndrome type 7: This term refers to the specific subtype of Long QT syndrome caused by mutations in the KCNJ2 gene. Long QT syndrome is a group of disorders characterized by abnormal heart rhythms that can lead to fainting, seizures, and even sudden cardiac arrest.


• Potassium channelopathy: This term is used to describe a group of disorders that involve abnormalities in potassium channels, including Andersen-Tawil syndrome. Potassium channels play a crucial role in maintaining the electrical activity of cells, particularly in the heart and muscles.


• Periodic paralysis syndrome: This term highlights one of the key symptoms of Andersen-Tawil syndrome, which is periodic episodes of muscle weakness or paralysis. These episodes can be triggered by factors such as exercise, stress, or certain medications.

It is important to note that while these synonyms may be used interchangeably, they all refer to the same underlying condition. Andersen-Tawil syndrome is a complex disorder that requires comprehensive medical management and ongoing care to address the various symptoms and potential complications associated with it.