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Article

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

The Canadian journal of cardiology - 1 Dec 2016

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

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Potassium Channels, Inwardly Rectifying

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Share to Tachycardia, Ventricular

Share to Ventricular Dysfunction, Left

Source

Identifiers

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

Genes

KCNJ2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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