Long QT Syndrome With Wolff-Parkinson-White Syndrome Resulting From a Novel Mutation in ANK2: A Case Report and Literature Review
10.1097/CD9.0000000000000154
- VernacularTitle:Long QT Syndrome With Wolff-Parkinson-White Syndrome Resulting From a Novel Mutation in ANK2: A Case Report and Literature Review
- Author:
Jian LI
1
;
Shixing LI
1
;
Chuang ZHANG
1
;
Xiangmin SHI
1
Author Information
1. Department of Cardiology, the Sixth Medical Center of Chinese People’s Liberation Army General Hospital, Beijing 100048, China
- Publication Type:Journal Article
- Keywords:
Long QT syndrome;
Wolff-Parkinson-White syndrome;
ankyrin-B-related;
ANK2 variant
- From:
Cardiology Discovery
2025;05(2):178-181
- CountryChina
- Language:English
-
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 ( ANK2c 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.
