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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 

Brief review of the recently described short QT syndrome and other cardiac channelopathies.

There are many diseases related to ion-channel disorders, so-called "channelopathies." Hereditary short QT syndrome is a clinical-electrocardiographic entity with autosomal-dominant mode of transmission and it is the most recently described channelopathy. The syndrome may affect infants, children, or young adults with strong positive family background of sudden cardiac death. Short QT syndrome is characterized by short QT and heart-rate-corrected QTc intervals. It is frequently associated with tall-, peaked-, and narrow-based T waves that are reminiscent of the typical "desert tent" T waves of hyperkalemia. There is a high tendency for paroxysmal atrial fibrillation due to the heterogeneous abbreviation of action potential duration and refractoriness of atrial myocytes. The arrhythmia can also be induced by programmed electrical stimulation. The safest treatment suggested is an implantable cardioverter defibrillator, though the possibilities of inappropriate shocks have caused some concern, especially in teenagers. The ability of quinidine to prolong the QT interval has the potential to be an effective therapy for patients with short QT syndrome. This is particularly important in developing countries, where the implantable cardioverter-defibrillator therapy is not always available. Since these patients are at risk of sudden cardiac death from birth, and implantable cardioverter-defibrillator implantation has a lot of limitations in very young children, the utility of quinidine has to be evaluated further. Clinicians need to be aware of this deadly electrocardiographic (ECG) pattern as it portends a high risk of sudden cardiac death in otherwise healthy subjects with structurally normal hearts.[1]

References

  1. Brief review of the recently described short QT syndrome and other cardiac channelopathies. Pérez Riera, A.R., Ferreira, C., Dubner, S.J., Schapachnik, E., Soares, J.D., Francis, J. Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc. (2005) [Pubmed]
 
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