Ankyrin-B Syndrome: A Case of Sinus Node Dysfunction, Atrial Fibrillation and Prolonged QT in a Young Adult

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...

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Bibliographic Details
Published in:Heart, lung & circulation lung & circulation, 2015-02, Vol.24 (2), p.e31-e34
Main Authors: Robaei, Daniel, MBBS, Ford, Thomas, MBBS, Ooi, Sze-Yuan, MD, FRACP
Format: Article
Language:English
Subjects:
Adult
Ankyrin-B
Ankyrins - genetics
Atrial fibrillation
Atrial Fibrillation - complications
Atrial Fibrillation - genetics
Cardiovascular
Genetic Diseases, Inborn - complications
Genetic Diseases, Inborn - genetics
Humans
Long QT Syndrome - complications
Long QT Syndrome - genetics
Male
QT prolongation
Sick Sinus Syndrome - complications
Sick Sinus Syndrome - genetics
Sinus node dysfunction
Torsades de pointes
Torsades de Pointes - complications
Torsades de Pointes - genetics
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Summary: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.
ISSN:1443-9506
1444-2892
DOI:10.1016/j.hlc.2014.09.013