Robaei, D., Ford, T. and Ooi, S.-Y. (2015) Ankyrin-B syndrome: a case of sinus node dysfunction, atrial fibrillation and prolonged QT in a young adult. Heart, Lung and Circulation, 24(2), e31-e34. (doi: 10.1016/j.hlc.2014.09.013) (PMID:25456501)
Full text not currently available from Enlighten.
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.
| Item Type: | Articles |
|---|---|
| Status: | Published |
| Refereed: | Yes |
| Glasgow Author(s) Enlighten ID: | Ford, Thomas |
| Authors: | Robaei, D., Ford, T., and Ooi, S.-Y. |
| College/School: | College of Medical Veterinary and Life Sciences > School of Cardiovascular & Metabolic Health |
| Journal Name: | Heart, Lung and Circulation |
| Publisher: | Elsevier |
| ISSN: | 1443-9506 |
| ISSN (Online): | 1444-2892 |
| Published Online: | 30 September 2014 |
University Staff: Request a correction | Enlighten Editors: Update this record
Altmetric
Altmetric