Genetic Modifiers for the Long-QT Syndrome
نویسندگان
چکیده
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 this variability reflects, to a large extent, the presence of additional genetic factors usually referred to as modifier genes. The search for modifier genes has already met with success and has identified several modifiers which, while not being disease causing, contribute to the modulation of the clinical phenotype by either increasing or decreasing arrhythmic risk and QT interval duration.
منابع مشابه
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تاریخ انتشار 2016