[长QT综合征——基因、机制与风险。进行基因家族筛查的指征？]

[Long QT syndrome--genes, mechanisms and risks. Indication for genetic family screening?].

作者信息

Bundgaard Henning, Havndrup Ole, Christiansen Michael, Andersen Paal Skytt, Jensen Henrik Kjaerulff, Svendsen Jesper Hastrup, Kjeldsen Keld P

机构信息

H:S Rigshospitalet, Hjertecentret, Statens Serum Institut, Klinisk Biokemisk Afdeling, og Arhus Universitetshospital, Skejby Sygehus, Hjertemedicinsk Afdeling.

出版信息

Ugeskr Laeger. 2006 Jun 26;168(26-32):2537-42.

PMID:16824406

Abstract

Inherited long QT syndrome (LQTS) is a cardiac disease characterised by episodes of ventricular tachyarrhythmia, presenting as syncope or sudden death. Untreated, the annual mortality rate is 1-2%. Sudden death has been reported as the first manifestation of the disease in some cases. Therefore, early (pre-symptomatic) diagnosis and management may save lives. However, clinically false negative relatives are also at risk of sudden death. On this basis we conclude assessment of relatives should be extended with genetic testing.

摘要

遗传性长QT综合征（LQTS）是一种以室性快速心律失常发作为特征的心脏疾病，表现为晕厥或猝死。未经治疗，年死亡率为1%-2%。在某些情况下，猝死被报道为该疾病的首发表现。因此，早期（症状前）诊断和治疗可能挽救生命。然而，临床上假阴性的亲属也有猝死风险。基于此，我们得出结论，亲属评估应通过基因检测加以扩展。