Open AccessPatient with Syncope and LQTS Carrying a Mutation in the PAS Domain of the hERG1 Channel
Author(s) -
Grilo Liliana Sintra,
Schläpfer Jürg,
Fellmann Florence,
Abriel Hugues
Publication year - 2011
Publication title -
annals of noninvasive electrocardiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.494
H-Index - 48
eISSN - 1542-474X
pISSN - 1082-720X
DOI - 10.1111/j.1542-474x.2011.00419.x
Subject(s) - medicine , mutation , long qt syndrome , syncope (phonology) , qt interval , phenotype , genetics , gene , bioinformatics , cardiology , biology
We report the case of a woman with syncope and persistently prolonged QTc interval. Screening of congenital long QT syndrome (LQTS) genes revealed that she was a heterozygous carrier of a novel KCNH2 mutation, c.G238C. Electrophysiological and biochemical characterizations unveiled the pathogenicity of this new mutation, displaying a 2‐fold reduction in protein expression and current density due to a maturation/trafficking‐deficient mechanism. The patient's phenotype can be fully explained by this observation. This study illustrates the importance of performing genetic analyses and mutation characterization when there is a suspicion of congenital LQTS. Identifying mutations in the PAS domain or other domains of the hERG1 channel and understanding their effect may provide more focused and mutation‐specific risk assessment in this population. Ann Noninvasive Electrocardiol 2011;16(2):213–218