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病例报告:先天性长QT综合征——心电图与基因型的相关性

Case report congenital LQTS--an electrocardiographic and genotype correlation.

作者信息

Akhtar Naveed, Ahmed Waqas, Mehboob Mehnaz

机构信息

Department of Cardiology, Shifa International Hospital, Islamabad.

出版信息

J Ayub Med Coll Abbottabad. 2005 Oct-Dec;17(4):74-6.

Abstract

The congenital Long QT Syndrome (LQTS) is characterized by abnormally prolonged ventricular repolarization due to inherited defect in cardiac sodium and potassium channels, which predisposes the patients to syncope, ventricular arrhythmias, and sudden cardiac death. Early diagnosis and preventive treatment are instrumental to prevent sudden cardiac death in patients with the congenital LQTS. The diagnostic criteria for congenital LQTS are based on certain electrocardiographic findings and clinical history. Recently genotype specific electrocardiographic pattern in the congenital LQTS has also been described. Recent studies suggest feasibility of genotype specific treatment of LQTS and in near future, mutation specific treatment will probably become a novel approach to this potentially fatal syndrome. We describe two cases that fulfilled the electrocardiographic and historical diagnostic criteria with morphology on electrocardiogram (ECG) suggestive of LQT1 genotype.

摘要

先天性长QT综合征(LQTS)的特征是由于心脏钠通道和钾通道的遗传性缺陷导致心室复极异常延长,这使患者易发生晕厥、室性心律失常和心源性猝死。早期诊断和预防性治疗对于预防先天性LQTS患者的心源性猝死至关重要。先天性LQTS的诊断标准基于某些心电图表现和临床病史。最近也描述了先天性LQTS中特定基因型的心电图模式。最近的研究表明对LQTS进行特定基因型治疗具有可行性,在不久的将来,针对突变的治疗可能会成为治疗这种潜在致命综合征的新方法。我们描述了两例符合心电图和病史诊断标准且心电图形态提示LQT1基因型的病例。

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