Reversible Dilated Cardiomyopathy Caused by a High Burden of Ventricular Arrhythmias in Andersen-Tawil Syndrome

Can J Cardiol. 2016 Dec;32(12):1576.e15-1576.e18. doi: 10.1016/j.cjca.2016.07.587. Epub 2016 Jul 27.


Andersen-Tawil syndrome (ATS) is caused by mutations in KCNJ2 (Kir2.1). It remains unclear whether dilated cardiomyopathy (DCM) is a primary feature of ATS. We studied a proband with typical physical features of ATS plus DCM and moderate to severe left ventricular dysfunction (left ventricular ejection fraction = 30.5%). Genetic screening revealed a novel mutation in Kir2.1 (c.665T>C, p.L222S). Functional studies showed that this mutation reduced ionic currents in a dominant-negative manner. Suppression of ventricular arrhythmias with bisoprolol led to normalization of left ventricular size and function. We conclude that DCM is likely a secondary phenotype in ATS and is caused by high ventricular arrhythmia burden.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adrenergic beta-1 Receptor Antagonists / administration & dosage
  • Adult
  • Andersen Syndrome* / diagnosis
  • Andersen Syndrome* / genetics
  • Andersen Syndrome* / physiopathology
  • Andersen Syndrome* / surgery
  • Bisoprolol / administration & dosage*
  • Cardiomyopathy, Dilated / diagnosis
  • Cardiomyopathy, Dilated / etiology
  • Cardiomyopathy, Dilated / therapy
  • Electrocardiography / methods
  • Genetic Testing / methods
  • Humans
  • Male
  • Mutation
  • Potassium Channels, Inwardly Rectifying / genetics
  • Severity of Illness Index
  • Tachycardia, Ventricular / diagnosis
  • Tachycardia, Ventricular / etiology
  • Tachycardia, Ventricular / prevention & control
  • Ventricular Dysfunction, Left / diagnosis
  • Ventricular Dysfunction, Left / etiology
  • Ventricular Dysfunction, Left / therapy


  • Adrenergic beta-1 Receptor Antagonists
  • KCNJ2 protein, human
  • Potassium Channels, Inwardly Rectifying
  • Bisoprolol

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