Andersen-Tawil syndrome – Cardiology MCQ

Following are true of Andersen-Tawil syndrome:
a) Prominent U waves
b) Periodic paralysis
c) Facial dysmorphism
d) All of the above
Correct answer: d) All of the above
In addition to these, life threatening ventricular arrhythmias are the hallmark of Andersen-Tawil syndrome. It is associated with KCNJ2 potassium channel mutation. This channel encodes for the alpha subunit of Kir2.1 related to inward rectifier potassium current IK1. Mutation positive cases which constitute about 60% are designated type I and the rest as type II.