Taming rare variation with known biology in long QT syndrome.
نویسندگان
چکیده
منابع مشابه
The relationship between Tonic-Clonic sizures in children and increased time of ventricular repolarization
Background: Long QT syndrome (LQTS) is a disorder in which electrical cardiac ventricular repolarization is impaired. It results in an increased risk of an irregular heartbeat which can result in palpitations, fainting, drowning, or sudden death. Long QT Syndrome may present as tonic-clonic seizure or a seizure-like disorder. By taking a superficial electrocardiogram (ECG) and proper diagnosis,...
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Introduction: Long QT syndrome (LQTS) is a type of ventricular arrhythmia characterized by prolonged QT intervals on electrocardiogram or delay in ventricular repolarization and it can lead to syncope, seizure and sudden cardiac death. Here, KCNE1 and KCNE2 variants are studied among Iranian affected families with this syndrome. Materials and Methods: Fifty patients referring to Rajaei Cardiov...
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Torsades de pointes is a rare but potentially lethal arrhythmia which mainly occurs in the setting of a prolonged QT interval. ECG is a reliable tool to detect such abnormalities, routinely taken from all patients over 40 who undergo surgery. We describe the case of a 35-year-old woman with torsades de points arrhythmia after hysterectomy surgery. Most likely, our patients had long QT syndro...
متن کاملThe mitochondrial DNA mutations associated with cardiac arrhythmia investigated in an LQTS family
Objective(s): As mitochondrial oxidative stress is probably entailed in ATP production, a candidate modifier factor for the long QT syndrome (LQTS) could be mitochondrial DNA (mtDNA). It has been notified that ion channels' activities in cardiomyocytes are sensitive to the ATP level. Materials and Methods: The sample of the research was an Iranian family with LQTS for mutations by PCR-SSCP and...
متن کاملLack of association between coding region of KCNE2 gene and the congenital long QT syndrome in an Iranian population
Introduction: Congenital long QT syndrome (LQTS) is a cardiac disorder characterized by QT interval prolongation at basal ECG. Different LQTS genes encode ion channel subunits or proteins involved in regulating cardiac ionic currents. Long QT syndrome type 6 (LQT6) is caused by mutation in the KCNE2 gene. Our research aimed to analyze genetic variants of KCNE2 gene causing the disease in Irania...
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عنوان ژورنال:
- Circulation. Cardiovascular genetics
دوره 6 3 شماره
صفحات -
تاریخ انتشار 2013