Chest Discomfort, Left Ventricular Hypertrophy, Global T‐Wave Inversion, and Short PR Interval Points to a Particular Cardiac Condition. What Could Be the Diagnosis?

Abstract

ABSTRACT This article describes a 44‐year‐old female with Fabry disease presenting with a 7‐year history of chest discomfort, extremity pain, and hypohidrosis. ECG revealed sinus bradycardia (52 bpm), a short PR interval (100 ms) with a delta wave, and a QRS complex (126 ms) showing a complete right bundle branch block. T‐wave inversion and ST‐segment depression were observed in leads I, AVL, II, aVF, and V2–V6. Genetic testing confirmed Fabry disease (GLA: c.700_702del). Short PR interval with left ventricular hypertrophy (LVH) poses a diagnostic challenge, requiring advanced imaging and genetic testing to differentiate Fabry disease from other cardiomyopathies.

Keywords

• Fabry disease
• left ventricular hypertrophy
• Sokolow–Lyon index