A form of inherited long QT syndrome (or LQT7) that is characterized by a triad of potassium-sensitive periodic paralysis, VENTRICULAR ECTOPIC BEATS, and abnormal features such as short stature, low-set ears, and SCOLIOSIS. It results from mutations of KCNJ2 gene which encodes a channel protein (INWARD RECTIFIER POTASSIUM CHANNELS) that regulates resting membrane potential.
Also Known As:
Andersen Cardiodysrhythmic Periodic Paralysis; Andersen Cardiodysrythmic Periodic Paralysis; Andersen Tawil Syndrome; Andersen-Tawil Syndrome; Long QT Syndrome 7; Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type; Potassium-Sensitive Periodic Paralysis, Ventricular Ectopy, and Dysmorphic Features; Periodic Paralysis, Potassium Sensitive Cardiodysrhythmic Type; Syndrome, Andersen; Syndrome, Andersen Tawil