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

Saman Rezazadeh; Jiqing Guo; Henry J Duff; Raechel A Ferrier; Brenda Gerull

doi:10.1016/j.cjca.2016.07.587

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.

Authors

Saman Rezazadeh¹, Jiqing Guo¹, Henry J Duff¹, Raechel A Ferrier², Brenda Gerull³

Affiliations

¹ Department of Cardiac Sciences and Libin Cardiovascular Institute of Alberta, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
² Department of Medical Genetics, University of Calgary and Alberta Health Services, Calgary, Alberta, Canada.
³ 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: [email protected].

PMID: 27789106
DOI: 10.1016/j.cjca.2016.07.587

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.

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

Substances

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

Grants and funding

FRN: 123351/CIHR/Canada