Rare but lethal short QT syndrome: most recent understanding of the disease
Short QT syndrome (SQTS) is a rare genetic channelopathy that affects the repolarization of cardiac cells and is associated with cardiac arrhythmia and sudden cardiac death (SCD). “Abbreviated repolarization” is the hallmark of the disease, which is secondary to genetic defects; mutations in several...
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| Veröffentlicht in: | Electronic journal of general medicine 2019-01, Vol.16 (5), p.em154 |
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| creator | Al Qaysi, Mustafa Rico-Mesa, Juan Simon Sovic, William Endo-Carvajal, Manuel Badin, Auroa |
| description | Short QT syndrome (SQTS) is a rare genetic channelopathy that affects the repolarization of cardiac cells and is associated with cardiac arrhythmia and sudden cardiac death (SCD). “Abbreviated repolarization” is the hallmark of the disease, which is secondary to genetic defects; mutations in several genes that encode different cardiac ion channels have been identified in individuals with the disease. Presentations of the disease include syncope, atrial or ventricular arrhythmia and SCD. SQTS is diagnosed with a corrected-QT (QTc) interval of |
| doi_str_mv | 10.29333/ejgm/108495 |
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Presentations of the disease include syncope, atrial or ventricular arrhythmia and SCD. SQTS is diagnosed with a corrected-QT (QTc) interval of <340 milliseconds (ms) or a QTc of 340-360 ms and either personal or family history of SCD, family history of SQTS or an identified genetic mutation. Implantable cardioverter-defibrillator (ICD) is the main treatment used in the secondary prevention of SCD in patients with the disease who have experienced previous major arrhythmic events. Pharmacological treatment with quinidine is used as an adjuvant therapy to ICD in the setting of recurrent shocks or as an alternative treatment when ICD is not feasible. 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| subjects | Cardiac arrhythmia Family medical history Mutation |
| title | Rare but lethal short QT syndrome: most recent understanding of the disease |
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