Interpretation of Results of Genetic Tests in Long QT Syndrome

the washback effect of discretepoint vs. integrative tests on the retention of content in knowledge tests

در این پایان نامه تاثیر دو نوع تست جزیی نگر و کلی نگر بر به یادسپاری محتوا ارزیابی شده که نتایج نشان دهندهکارایی تستهای کلی نگر بیشتر از سایر آزمونها است

Polygenic case of long QT syndrome confirmed through functional characterization informs the interpretation of genetic screening results

Introduction Long QT syndrome (LQTS) is a disorder of cardiac repolarization characterized by a prolonged QT interval on electrocardiogram (ECG). LQTS usually is referred to as a monogenic disorder. QT interval in the population is variable, which leads to many “borderline” cases and makes definitive diagnosis difficult. The utility of clinical genetic screening in congenital LQTS has been demo...

Genetic testing for long QT syndrome.

Genetic Modifiers for the Long-QT Syndrome

The long-QT syndrome (LQTS), probably the best-known genetic disorder causing life-threatening arrhythmias, has become a useful paradigm to study sudden cardiac death in the young. An intriguing feature of LQTS is its incomplete penetrance and variable expressivity which are commonly observed even among members of the same family, all carriers of the same mutation. There is a consensus that thi...

Long QT syndrome - a genetic cardiac channelopathy.

INTRODUCTION Long QT-syndrome (LQTS) is a genetic cardiac channelopathy characterised by a prolonged QT interval on a surface electrocardiogram (ECG), syncope, T-wave abnormalities, ventricular tachycardia of the torsades de pointes (TdPVT) type (Fig. 1) and an increased risk of sudden death [1]. LQTS has variable clinical presentation and is genetically characterised by incomplete penetrance, ...