Background and aim: The aim of the report was to present a novel mutation in KCNH2 in a family with life-threatening long QT syndrome.
Methods: A genetic study using the method of next generation sequencing was performed in a 47-year-old woman after several episodes of syncope and torsade de pointes after sudden stress, with familial history of sudden death in first-degree female relatives. The study was performed also in her three asymptomatic children. Prolongation of QTc and typical ECG pattern of long QT2 were seen in the index case and in her youngest son.
Results: Novel mutations (p.F617V) in exon 7 of KCNH2 were found in the index case and in her youngest son.
Conclusions: A novel heterozygous missense mutation in exon 7 of KCNH2 gene, causing a protein change p.F617V, was found in a family with life-threatening arrhythmias in women and clinical outcome typical for long QT2 syndrome.
Keywords: HERG/KCNH2 F617V; long QT syndrome; mutation; sudden cardiac death.