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Amorós I, Jiménez-Jáimez J, Tercedor L, Barana A, Gómez R, de la Fuente MG, Dolz-Gaitón P, Alvarez M, Martínez-Espín E, Lorente JA, Melgares R, Tamargo J, Delpón E, Caballero R

Functional effects of a missense mutation in HERG associated with type 2 long QT syndrome.

Heart Rhythm. 2011 Mar;8(3):463-70, PMID: 21109023

Long QT syndrome (LQTS) is characterized by a prolonged QT interval that can lead to severe ventricular arrhythmias (torsades de pointes) and sudden death. Congenital LQTS type 2 (LQT2) is due to loss-of-function mutations in the KCNH2 gene encoding Kv11.1 channels responsible for the rapid component of the delayed rectifier current.

CARDIAC & CARDIOVASCULAR SYSTEMS