Andersen-Tawil syndrome, scarier for the doctor than for the patient? Who, when, and how to treat

摘要

Andersen-Tawil syndrome (ATS) is a rare arrhythmia disorder combining a signature arrhythmia phenotype, consisting of a pronounced U-wave and frequent ventricular extrasystoles (figure ?) with extra-cardiac features including periodic paralysis and dysmorphic features. Occasionally, complex ventricular arrhythmias including bidirectional ventricular tachycardia and ventricular fibrillation occur. The pronounced U-wave can easily be distinguished from the ST segment, and because the QT interval itself is actually not prolonged, the generally used synonym long-QT syndrome type 7 seems inappropriate. Instead, ATS should probably be used, and because of the presumed heterogenetic basis, ATS type 1 is the appropriate terminology for at least half the cases in whom mutations are found in the KCNJ2 gene which encodes for the inward rectifying potassium channel Kir2.1 (conducting the inward rectifying potassium current l_(K1)). Other causal genes are likely to be present but have not been identified yet.