Novel Mutation in the KCNJ2 Gene Is Associated with a Malignant Arrhythmic Phenotype of Andersen-Tawil Syndrome.
Author
Summary, in English
Andersen-Tawil syndrome (ATS) is a rare inherited multisystem disorder associated with mutations in KCNJ2 and low prevalence of life-threatening ventricular arrhythmias. Our aim was to describe the clinical course of ATS in a family, in which the proband survived aborted cardiac arrest (ACA) and genetic screening revealed a previously unknown mutation (c.271_282del12[p.Ala91_Leu94del]) in the KCNJ2 gene.
Publishing year
2013
Language
English
Pages
471-478
Publication/Series
Annals of Noninvasive Electrocardiology
Volume
18
Issue
5
Links
Document type
Journal article
Publisher
Wiley-Blackwell
Topic
- Cardiac and Cardiovascular Systems
Status
Published
ISBN/ISSN/Other
- ISSN: 1082-720X