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The etiology of short QT syndrome is unclear at this time.
Short QT syndrome, a genetic disease of the electrical system of the heart.
Short QT syndrome appears to have an autosomal dominant pattern of inheritance.
Short QT syndrome appears to be inherited in an autosomal dominant pattern, and a few affected families have been identified.
Short QT syndrome is associated with an increased risk of sudden cardiac death, most likely due to ventricular fibrillation.
The Short QT Syndrome diagnostic criteria is based on a point system as follows:
A mutation in the KCNJ2 gene has also been shown to cause short QT syndrome.
Some individuals with short QT syndrome frequently complain of palpitations and may have unexplained syncope (loss of consciousness).
This disruption in ion transport alters the way the heart beats, leading to the abnormal heart rhythm characteristic of short QT syndrome.
You should not use this medication if you are allergic to rufinamide, or if you have a genetic heart rhythm disorder called "Short QT syndrome."
A current hypothesis is that short QT syndrome is due to increased activity of outward potassium currents in phase 2 and 3 of the cardiac action potential.
Mutations in the KCNH2, KCNJ2, and KCNQ1 genes cause short QT syndrome.
There are far more hERG mutations described for long QT syndrome than for short QT syndrome.
Personal or family history of certain abnormal heart rhythms, including long or short QT syndrome, Wolff-Parkinson-White syndrome, extremely low heart rates, or heart block.
In the families afflicted by short QT syndrome, mutations have been described in three genes, KvLQT1, the human ether-a-go-go gene (HERG), and KCNJ2.
Loss of function mutations in this channel may lead to long QT syndrome (LQT2), while gain of function mutations may lead to short QT syndrome.
An abnormal prolonged QT interval could be due to Long QT syndrome, whereas an abnormal shortened QT interval could be due to Short QT syndrome.
A recent study has suggested the use of certain antiarrhythmic agents, particularly quinidine, may be of benefit in individuals with short QT syndrome due to their effects on prolonging the action potential and by their action on the I channels.
Currently, some individuals with short QT syndrome have had implantation of an implantable cardioverter-defibrillator (ICD) as a preventive action, although it has not been demonstrated that cardiac problems have occurred before deciding to implant an ICD.
Mutations in the gene can lead to a defective protein and several forms of inherited arrhythmias as Long QT syndrome which is a prolongation of the QT interval of heart repolarization, Short QT syndrome, and Familial Atrial Fibrillation.