Novel Mutation in the KCNJ2 Gene Is Associated with a Malignant Arrhythmic Phenotype of Andersen-Tawil Syndrome.

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.

• Författare: Eva Fernlund; Catarina Lundin; Eva Hertervig; Ole Kongstad Rasmussen; M Alders; Pyotr Platonov
• Avdelning/ar: Pediatrik, Lund; Avdelningen för klinisk genetik; Kardiologi
• Publiceringsår: 2013
• Språk: Engelska
• Sidor: 471-478
• Publikation/Tidskrift/Serie: Annals of Noninvasive Electrocardiology
• Volym: 18
• Issue: 5
• Länkar: http://www.ncbi.nlm.nih.gov/pubmed/24047492?dopt=Abstract; http://dx.doi.org/10.1111/anec.12074
• Dokumenttyp: Artikel i tidskrift
• Förlag: Wiley-Blackwell
• Ämne: Cardiac and Cardiovascular Systems
• Status: Published
• ISBN/ISSN/Övrigt: ISSN: 1082-720X