Abstract
BACKGROUND Short QT syndrome is associated with an increasedrisk of cardiac arrhythmias and unexpected sudden death. Until now,only mutations in genes encodingthe cardiac potassium and calciumchannels have been implicated in early T-wave repolarization. OBJECTIVE The purpose of this study was to confirm a relationshipbetween a short QT syndrome and carnitine deficiency METHODS We report 3 patients affected by primary systemiccarnitine deficiency and an associated short QT syndrome. Ven-tricularfibrillation during early adulthood was the initial symptomin 1 case. To confirm the relationship between carnitine, short QTsyndrome, and arrhythmias, we used a mouse model of carnitinedeficiency induced by long-term subcutaneous perfusion of MET88. RESULTS MET88-treated mice developed cardiac hypert-rophy associated with a remodeling of the mitochondrial network.The continuous monitoring of electrocardiograms confirmed ashortening of the QT interval, which was negatively correlated withthe plasma carnitine concentration. As in humans, such alterationscoincided with the genesis of ventricular premature beats andventricular tachycardia andfibrillation. CONCLUSION Altogether, these results suggest that long-chainfatty acid metabolism influence the morphology and the electricalfunction of the heart.