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torsades de pointes/prolina
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A novel KCNQ1 variant (L203P) associated with torsades de pointes-related syncope in a Steinert syndrome patient.
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BACKGROUND
A 43-year-old woman suffering from Steinert syndrome was admitted after experiencing multiple episodes of torsades de pointes-related syncope.
OBJECTIVE
To elucidate the pathophysiology of these arrhythmic events.
RESULTS
We obtained DNA from the patient and sequenced the coding region of
The distinct HERG missense mutation L564P causes long QT syndrome in one French Canadian family.
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BACKGROUND
Long QT syndrome is a congenital abnormality of cardiac repolarization causing syncope and sudden death from ventricular tachyarrhythmias known as torsades de pointes. This hereditary cardiac disorder often shows an increase of the value of the QT interval corrected for heart rate over
Identification and characterisation of a novel KCNQ1 mutation in a family with Romano-Ward syndrome.
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Romano-Ward syndrome (RWS), the autosomal dominant form of the congenital long QT syndrome, is characterised by prolongation of the cardiac repolarisation process associated with ventricular tachyarrhythmias of the torsades de pointes type. Genetic studies have identified mutations in six ion
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