Browse by author
Lookup NU author(s): Dr Karen SuetterlinORCiD,
Professor Michael Hanna,
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.
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
Online publication date: 01/01/2021
Acceptance date: 10/10/2020
ISSN (print): 2214-3599
ISSN (electronic): 2214-3602
Publisher: IOS Press
PubMed id: 33074188
Altmetrics provided by Altmetric