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|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
|Study or Trial:||Case Series and Case Reports|
|Appears in Collections:||Cardiology|
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