Challenges of diagnosis of Long-QT syndrome in children

被引：10

作者：

Moric-Janiszewska, Ewa

Markiewicz-Loskot, Grazyna

Oskot, Maria L.

Weglarz, Ludmil

Hollek, Andrzej

Szydlowski, Leslaw

机构：

[1] L Warynski Silesian Med Acad, Dept Pediat Cardiol, Medykow, Poland

[2] L Warynski Silesian Med Acad, Dept Biochem, Narcyzow, Poland

来源：

PACE-PACING AND CLINICAL ELECTROPHYSIOLOGY | 2007年 / 30卷 / 09期

关键词：

congenital long-QT syndrome; ion channels; mutation; repolarization parameters; ST-T wave patterns; exercise stress test;

D O I：

10.1111/j.1540-8159.2007.00832.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We describe the clinical and genetic characteristics of the family, in which the diagnosis of LQT1 had been made. The electrocardiogram (ECG) characteristics of this patient indicated the likelihood of LQTS1. Polymorphic ventricular extrasystolies and episodes of polymorphic non-sustained ventricular tachycardia were confirmed by Holter ECG monitoring. On the exertional electrocardiogram polymorphic ventricular tachycardia (torsade de pointes) was recorded. Direct sequencing of both DNA strands revealed the absence of mutations or polymorphisms in the KCNQ1, HERG, and SCN5A genes.

引用

页码：1168 / 1170

页数：3

共 22 条

[1] DETECTION OF POINT MUTATIONS IN THE P53 GENE - COMPARISON OF SINGLE-STRAND CONFORMATION POLYMORPHISM, CONSTANT DENATURANT GEL-ELECTROPHORESIS, AND HYDROXYLAMINE AND OSMIUM-TETROXIDE TECHNIQUES [J].