Referenced in: none

Automatically associated channels: Kv11.1 , Kv7.1

Title: Long QT syndrome with nocturnal cardiac events caused by a KCNH2 missense mutation (G604S).

Authors: Akinori Sato, Masaomi Chinushi, Hiroshi Suzuki, Fujito Numano, Takanori Hanyu, Kenichi Iijima, Hiroshi Watanabe, Hiroshi Furushima

Journal, date & volume: Intern. Med., 2012 , 51, 1857-60

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/22821100

Abstract
An 8-year-old boy suffered from an unconsciousness attack and torsade de pointes arrhythmia during sleep or at rest. His electrocardiogram showed prolonged QT intervals, but the T wave morphology was atypical for type 1, 2 or 3 congenital long-QT syndrome (LQTS). Intravenous epinephrine slightly prolonged the QT interval whereas mexiletine infusion shortened the QT interval. Although these clinical characteristics might suggest type 3 LQTS, a genetic analysis identified the G604S-KCNH2 mutation (type 2 LQTS). Because mismatches between the genotype and phenotype of LQTS are possible, genetic analysis of LQTS is important to identify the most appropriate therapeutic option and risk stratification.