Please use this identifier to cite or link to this item:
https://hdl.handle.net/1/1572
Title: | Ankyrin-B syndrome: a case of sinus node dysfunction, atrial fibrillation and prolonged QT in a young adult | Authors: | Ford, Tom ;Robaei, D.;Ooi, S.Y. | Issue Date: | Feb-2015 | Source: | Volume 24, Issue 2, e31 - e34 | Journal title: | Heart, Lung & Circulation | Abstract: | Ankyrin-B protein is involved in regulating expression and localisation of cardiac ion channels and transporters. Mutations of the ANK2 gene in the rare condition Ankyrin-B syndrome result in loss of function of the ankyrin-B protein which in turn leads to abnormal regulation of intracellular sodium and calcium and a predisposition to cardiac arrhythmia including torsades de pointes. We describe a rare case of this condition characterised by sinus node dysfunction, atrial fibrillation and prolonged QT syndrome in a young patient with a family history of sudden death. The management of Ankyrin-B syndrome may include avoidance of QT prolonging medications, insertion of a permanent pacemaker for sinus node dysfunction, or a cardioverter defibrillator for those at high-risk of sudden death from torsades de pointes. | URI: | https://elibrary.cclhd.health.nsw.gov.au/cclhdjspui/handle/1/1572 | DOI: | 10.1016/j.hlc.2014.09.013 | Pubmed: | https://www.ncbi.nlm.nih.gov/pubmed/25456501 | ISSN: | 1443-9506 | Publicaton type: | Journal Article | Keywords: | Cardiology Heart Disease |
Study or Trial: | Case Series and Case Reports |
Appears in Collections: | Cardiology |
Show full item record
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.