Toggle Main Menu Toggle Search

Open Access padlockePrints

Andersen-Tawil Syndrome Presenting with Complete Heart Block

Lookup NU author(s): Dr Karen SuetterlinORCiD, Professor Michael Hanna, Emma Matthews


Full text for this publication is not currently held within this repository. Alternative links are provided below where available.


Andersen-Tawil syndrome (ATS) is a rare autosomal dominant neuromuscular disorder due to mutations in the KCNJ2 gene. The classical phenotype of ATS consists of a triad of periodic paralysis, cardiac conduction abnormalities and dysmorphic features. Episodes of either muscle weakness or cardiac arrhythmia may predominate however, and dysmorphic features may be subtle, masking the true breadth of the clinical presentation, and posing a diagnostic challenge. The severity of cardiac involvement varies but includes reports of life-threatening events or sudden cardiac death, usually attributed to ventricular tachyarrhythmias. We report the first case of advanced atrioventricular (AV) block in ATS and highlight clinical factors that may delay diagnosis.

Publication metadata

Author(s): Suetterlin K, Männikkö R, Flossmann E, Sud R, Fialho D, Vivekanandam V, James N, Gossios TD, Hanna MG, Savvatis K, Matthews E

Publication type: Article

Publication status: Published

Journal: Journal of Neuromuscular Diseases

Year: 2021

Volume: 8

Issue: 1

Pages: 151-154

Online publication date: 01/01/2021

Acceptance date: 10/10/2020

ISSN (print): 2214-3599

ISSN (electronic): 2214-3602

Publisher: IOS Press


DOI: 10.3233/JND-200572

PubMed id: 33074188


Altmetrics provided by Altmetric