title: Reversible Dilated Cardiomyopathy Caused by a High Burden of Ventricular Arrhythmias in Andersen-Tawil Syndrome.
abstract: 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.
authors: Department of Cardiac Sciences and Libin Cardiovascular Institute of Alberta, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
authors: Saman
authors: S
authors: Rezazadeh
authors: Department of Cardiac Sciences and Libin Cardiovascular Institute of Alberta, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
authors: Jiqing
authors: J
authors: Guo
authors: Department of Cardiac Sciences and Libin Cardiovascular Institute of Alberta, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
authors: Henry J
authors: HJ
authors: Duff
authors: Department of Medical Genetics, University of Calgary and Alberta Health Services, Calgary, Alberta, Canada.
authors: Raechel A
authors: RA
authors: Ferrier
authors: Department of Cardiac Sciences and Libin Cardiovascular Institute of Alberta, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada; Department of Medical Genetics, University of Calgary and Alberta Health Services, Calgary, Alberta, Canada; Comprehensive Heart Failure Center and Department of Medicine I, University Hospital Würzburg, Würzburg, Germany. Electronic address: bgerull@ucalgary.ca.
authors: Brenda
authors: B
authors: Gerull
mesh_terms: D058671:Adrenergic beta-1 Receptor Antagonists / Q000008:administration & dosage; D000328:Adult; D050030:Andersen Syndrome / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000601:surgery; D017298:Bisoprolol / Q000008:administration & dosage*; D002311:Cardiomyopathy, Dilated / Q000175:diagnosis / Q000209:etiology / Q000628:therapy; D004562:Electrocardiography / Q000379:methods; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D008297:Male; D009154:Mutation; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics; D012720:Severity of Illness Index; D017180:Tachycardia, Ventricular / Q000175:diagnosis / Q000209:etiology / Q000517:prevention & control; D018487:Ventricular Dysfunction, Left / Q000175:diagnosis / Q000209:etiology / Q000628:therapy
chemical_list: D058671:Adrenergic beta-1 Receptor Antagonists; C489457:KCNJ2 protein, human; D024661:Potassium Channels, Inwardly Rectifying; D017298:Bisoprolol