Long QT Syndrome With Wolff-Parkinson-White Syndrome Resulting From a Novel Mutation in ANK2: A Case Report and Literature Review

Abstract Congenital long QT syndrome (LQTS) is a life-threatening ion channelopathy caused by mutations in genes encoding specific ion channels, which can result in malignant arrhythmia of the torsades de pointes type. LQTS type 4 represents less than 1% of inherited LQTS cases, in contrast to the 90% attributable to types 1–3, it is specifically caused by loss-of-function mutations in the membrane-binding domain of ANK2 . Here, a novel ANK2 variant ( ANK2 c 2245 A>C, resulting in p.Lys749Gln) associated with LQTS type 4 and Wolff-Parkinson-White syndrome was identified in a previously healthy 61-year-old male patient who suffered paroxysmal palpitations and pre-syncope due to recurrent torsades de pointes.