Symptoms and Signs
Some individuals with short QT syndrome frequently complain of palpitations and may have unexplained syncope (loss of consciousness). Mutations in the KCNH2, KCNJ2, and KCNQ1 genes cause short QT syndrome. These genes provide instructions for making proteins that act as channels across the cell membrane. These channels transport positively charged atoms (ions) of potassium into and out of cells. In cardiac muscle, these ion channels play critical roles in maintaining the heart's normal rhythm. Mutations in the KCNH2, KCNJ2, or KCNQ1 gene increase the activity of the channels, which changes the flow of potassium ions between cells. This disruption in ion transport alters the way the heart beats, leading to the abnormal heart rhythm characteristic of short QT syndrome. Short QT syndrome appears to have an autosomal dominant pattern of inheritance.
Short QT syndrome is associated with an increased risk of sudden cardiac death, most likely due to ventricular fibrillation.
Read more about this topic: Short QT Syndrome
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