Open AccessMexiletine shortens the QT interval in a pedigree of KCNH2 related long QT syndrome
Author(s) -
Fujisawa Taishi,
Aizawa Yoshiyasu,
Katsumata Yoshinori,
Kimura Kensuke,
Hashimoto Kenji,
Yamashita Terumasa,
Miyama Hiroshi,
Kimura Takehiro,
Kosaki Kenjiro,
Takatsuki Seiji,
Shimizu Wataru,
Fukuda Keiichi
Publication year - 2020
Publication title -
journal of arrhythmia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.463
H-Index - 21
eISSN - 1883-2148
pISSN - 1880-4276
DOI - 10.1002/joa3.12300
Subject(s) - mexiletine , medicine , qt interval , long qt syndrome , herg , short qt syndrome , cardiology , sudden death , frameshift mutation , anesthesia , mutation , genetics , potassium channel , biology , gene
A 23‐year‐old female had been suffering from recurrent syncopal episodes during sleep since her childhood. She had a family history of sudden death and her QTc interval was remarkably prolonged to 537 ms A Holter ECG revealed torsade de pointes, corresponding to syncope. She was started on mexiletine and her QTc interval shortened. Her symptoms were controlled after β‐blockers and Ca‐blockers were added. A genetic analysis with a next generation sequencer identified a frameshift mutation at the C terminus of the KCNH2 gene. Here we present a type 2 long QT syndrome case in which mexiletine was effective.