Biernacka Elżbieta, Szperl Małgorzata, Kosiec Agnieszka, Roszczynko Marta, Hoffman Piotr
Instytut Kardiologii im. Prymasa Tysiąclecia Stefana Kardynała Wyszyńskiego.
Kardiol Pol. 2015;73(11):1097-100. doi: 10.5603/KP.a2015.0096. Epub 2015 May 19.
The aim of the report was to present a novel mutation in KCNH2 in a family with life-threatening long QT syndrome.
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.
Novel mutations (p.F617V) in exon 7 of KCNH2 were found in the index case and in her youngest son.
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.
本报告旨在呈现一个患有危及生命的长QT综合征的家族中KCNH2基因的一种新突变。
对一名47岁女性进行了一项采用新一代测序方法的基因研究，该女性在突发应激后出现多次晕厥和尖端扭转型室速发作，且其一级女性亲属中有猝死家族史。同时也对她的三个无症状子女进行了研究。索引病例及其最小的儿子出现了QTc延长和长QT2的典型心电图模式。
在索引病例及其最小的儿子中发现了KCNH2基因第7外显子的新突变（p.F617V）。
在一个患有危及女性生命的心律失常且具有长QT2综合征典型临床结局的家族中，发现了KCNH2基因第7外显子的一种新的杂合错义突变，该突变导致蛋白质发生p.F617V改变。
