Congenital long QT syndrome of particularly malignant course connected with so far unknown mutation in the sodium channel SCN5A gene

作者：Uzieblo Zyczkowska Beata^*; Michalkiewicz Dariusz; Jackun Podlesna Anna; Gielerak Grzegorz; Zienciuk Krajka Agnieszka

来源：Cardiology Journal, 2013, 20(1): 78-82.

DOI：10.5603/CJ.2013.0012

• long QT syndrome
• sudden cardiac arrest
• new mutation gene SCN5A in LQTS

This article presents the case of a 35 year-old male with long QT syndrome (LQTS) who suffered from sudden cardiac arrest. Even though asymptomatic LQTS had been diagnosed, the patient had not undergone any medical treatment. His two daughters, aged four and seven, were also diagnosed with LQTS. A new, previously unknown, mutation of the SCN5A gene has been found in the family. The older daughter died suddenly before implantable cardioverter-defibrillator (ICD) implantation, but the father and the younger daughter have been implanted with ICDs. (Cardiol J 2013; 20,1: 78-82)

• 出版日期2013-1
• 单位河北医科大学