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Pflugers Arch. 2010 Jul;460(2):289-94. doi: 10.1007/s00424-010-0820-6. Epub 2010 Mar 21.

Kir 2.1 channelopathies: the Andersen-Tawil syndrome.

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Division of Pediatric Cardiology, University of Utah School of Medicine, Pediatric Cardiology Suite 1500 PCMC, 100 N. Mario Capecchi Way, Salt Lake City, UT 84113, USA.


As a multisystem disorder, Andersen-Tawil syndrome (ATS) is rather unique in the family of channelopathies. The full spectrum of the disease is characterized by ventricular arrhythmias, dysmorphic features, and periodic paralysis. Most ATS patients have a mutation in the ion channel gene, KCNJ2, which encodes the inward rectifier K+ channel Kir2.1, a component of the inward rectifier IK1.IK1 provides repolarizing current during the most terminal phase of repolarization and is the primary conductance controlling the diastolic membrane potential. Thus, ATS is a disorder of cardiac repolarization. The chapter will discuss the most recent data concerning the genetic, cellular, and clinical data underlying this unique disorder.

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