title: Ankyrin-B syndrome: a case of sinus node dysfunction, atrial fibrillation and prolonged QT in a young adult.
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.
authors.affiliation: Eastern Heart Clinic, Prince of Wales Hospital, Barker Street Randwick NSW, Australia; University of New South Wales, Randwick NSW, Australia. Electronic address: daniel.robaei@unsw.edu.au.
authors.forename: Daniel
authors.initials: D
authors.lastname: Robaei
authors.affiliation: Eastern Heart Clinic, Prince of Wales Hospital, Barker Street Randwick NSW, Australia; University of New South Wales, Randwick NSW, Australia.
authors.forename: Thomas
authors.initials: T
authors.lastname: Ford
authors.affiliation: Eastern Heart Clinic, Prince of Wales Hospital, Barker Street Randwick NSW, Australia; University of New South Wales, Randwick NSW, Australia.
authors.forename: Sze-Yuan
authors.initials: SY
authors.lastname: Ooi
mesh_terms: D000328:Adult; D017487:Ankyrins / Q000235:genetics*; D001281:Atrial Fibrillation / Q000150:complications / Q000235:genetics; D030342:Genetic Diseases, Inborn / Q000150:complications / Q000235:genetics; D006801:Humans; D008133:Long QT Syndrome / Q000150:complications / Q000235:genetics; D008297:Male; D012804:Sick Sinus Syndrome / Q000150:complications / Q000235:genetics; D016171:Torsades de Pointes / Q000150:complications / Q000235:genetics
chemical_list: C498994:ANK2 protein, human; D017487:Ankyrins
keywords: Ankyrin-B; Atrial fibrillation; QT prolongation; Sinus node dysfunction; Torsades de pointes