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

胸部不适、左心室肥厚、整体T波倒置和PR间期缩短提示某种特定的心脏疾病。可能的诊断是什么?

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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.

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