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Zamorano-León JJ, Alonso-Orgaz S, Moreno J, Cinza R, García-Torrent MJ, Pérez-Castellano N, Pérez-Villacastín J, Macaya C, López-Farré AJ

Novel mutation (H402R) in the S1 domain of KCNH2-encoded gene associated with long QT syndrome in a Spanish family.

Int. J. Cardiol.. 2010 Jul;142(2):206-8, PMID: 19136169

Long-QT syndrome is a congenital cardiac disease resulting in ventricular arrhythmias and sudden death. Genetic mutations in two protein ion-channel genes, KCNQ1 and KCNH2. The mutations position in these genes provides additional information about the evaluation of the risk-stratification. In a Spanish family in whom previous repetitive syncope episodes, sudden death and pathological prolongation of the QT interval were documented, a novel heterozygous mutation in the KCNH2 gene (A1218>G) was identified. This mutation loading to amino acid substitution H420R in the S1 transmembrane domain of KCNH2. The new A1218>G mutation in the KCNH2 gene detected in this Spanish family causes arrhythmia manifestation in the carriers.


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