A French retrospective study of 19 patients with primary carnitine deficiency, aged between 4 months and 28.9 years (median 2.3 years) at diagnosis, found :
- ventricular rhythm disorders in 4 of them (two ventricular fibrillations, one ventricular tachycardia and one sudden death) and cardiomyopathy in 16 cases ;
- six of the 11 electrocardiograms available before treatment showed a short QT ;
- carnitine supplementation normalised the length of the QT segment;
- three sudden deaths occurred before treatment was started, while no rhythmic complications appeared afterwards.
Neonatal screening for primary carnitine deficiency should prevent these avoidable deaths.
