Short QT syndrome

Abstract

Short QT Syndrome (SQTS) is a rare form of channelopathy with a moderately high risk of SCD, but the syndrome is not well-de fined and information about long term follow-up still very scarce. A short QT interval is the main component of the syndrome, but because of an abnormal relationship between the QT interval and the RR interval in SQTS patients, the short QT interval in such patients is often only apparent at heart rates close to 60 bpm. Since routine ECGs are often taken at heart rates faster than that, many patients with SQTS may be missed. Many mutations have been found responsible for SQTS, but in published families a mutation has only been found in one of every four, who has been genetically tested. Most diagnoses are therefore based upon the clinical presentation, which in 90 % of the cases has included a family member with SCD. The treatment of choice is an implantable de fibrillator.