Long QT syndromeTriple mutationKCNH2 geneKCNQ1 geneSCN5A genePolymorphic ventricular tachycardiaCongenital long QT syndrome (LQTS) is a rare hereditary disease, with an incidence of 1 in 2000, characterized by prolonged ventricular repolarization and malignant ventricular tachyarrhythmias. We report the ...
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Silver ES, Liberman L, Chung WK, Spotnitz HM, Chen JM, Ackerman MJ, Moir C, Hordof AJ, Pass RH (2009) Long QT syndrome due to a novel mutation in SCN5A: treatment with ICD placement at 1 month and left cardiac sympathetic denervation at 3 months of age. J Interv Card Electrophysiol...
Mutation-induced destabilization ofprotein foldingappears to be the most common mechanism for channel defects causing long QT syndrome, the researchers concluded. This work also showed that five mutations causing defective folding of the KCNQ1 protein were found in the S0 segment of the voltage sensor...
Long QT Syndrome (LQTS) is a cardiac disease characterized by a prolonged QT interval on a surface electrocardiogram (ECG) and by clinical symptoms such as... AIMEE PAULUSSEN,GERT MATTHIJS,MARC GEWILLIG,... - 《Genetic Testing》 被引量: 47发表: 2003年 A novel splice mutation of HERG in ...
The congenital long QT syndrome (LQTS) and short QT syndrome (SQTS) are genetic disorders caused by mutations in specific myocardial ion channels leading to abnormal ventricular repolarization. Clinical manifestations include a tendency to develop syncope or cardiac arrest due to spontaneous polymorphic ...
Long QT syndrome (LQTS) is a cardiac ion channelopathy which presents clinically with palpitations, syncope or sudden death. More than 700 LQTS-causing mutations have been identified in 13 genes, all of which encode proteins involved in the execution of the cardiac action potential. The most freq...
1. 综合征 长QT综合征(long QT syndrome)合并先天性耳聋,又名聋- 心综合征(surdo-cardiac syndrome),为常染色体隐性遗传病,有心 … zhidao.baidu.com|基于4个网页 2. 间期延长综合征 QT延长... ... ) Long QT syndrome 延长综合征 )long QT syndrome间期延长综合征) Long QT syndrome/genet 延长综合征...
Purpose: Long QT syndrome (LQTS) is a disorder of ventricular repolarization that predisposes affected individuals to sudden cardiac death. Acquired LQTS is caused by drugs that prolong repolarization by blocking the hERG potassium channel. Bathing zebrafish embryos with known hERG channel blockers produ...
Although many mutations in LQT genes have been reported, there are few reports of twins with LQTS. This is the first report, to our knowledge, of identical twins with a HERG gene mutation. 展开 关键词: LQTS HERG gene mutation Identical twin Long QT syndrome Romano-Ward Syndrome ...