Short QT syndrome: mechanisms, diagnosis and treatment

Abstract

Short QT syndrome is an inheritable primary electrical disease of the heart that was discovered in 1999. The disorder is characterized by an abnormally short QT interval (<300 ms) and a propensity to atrial fibrillation, sudden cardiac death or both. As in the case of long QT syndrome, more than one relevant genetic mutation has been identified that can lead to a short QT interval on electrocardiography; so far two have been identified. Shortening of the effective refractory period combined with increased dispersion of repolarization is the likely substrate for re-entry and life-threatening tachyarrhythmias. Thus far, 22 people have been classified as having short QT syndrome: 15 from the actual measurement of a short QT interval on electrocardiograms and 7 by history after they died from sudden cardiac death. Several cases, especially among children, have probably been overlooked, since the shortness of the QT interval becomes apparent only at heart rates less than 80 beats/min. The best form of treatment is still unknown, but prevention of atrial fibrillation has been accomplished by propafenone. Implantation of an implantable cardioverter defibrillator is recommended for prevention of sudden cardiac death.