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Patient
21-year-old woman had an electrocardiogram as part of a family assessment of Fabry disease (two brothers with diagnosis by enzymatic assay);
Trace
This electrocardiogram is characteristic of Fabry disease with nascent cardiac involvement ; sinus rhythm, P wave of very short duration with short PQ interval (< 120 ms); narrow QRS with left ventricular hypertrophy (positive Sokolow index); inferior and lateral repolarization disorders (negative T waves); prolonged QT interval (QTc of 446 ms);
Exergue
The detection of a short PR interval, without pre-excitation, in the presence or absence of left ventricular hypertrophy should evoke the diagnosis of Fabry disease.
The diagnosis of Fabry disease was confirmed in this patient by molecular analysis of the GLA gene.