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

Ann Noninvasive Electrocardiol. 2025 Mar;30(2):e70048. doi: 10.1111/anec.70048.

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; Sokolow–Lyon index; left ventricular hypertrophy.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chest Pain* / diagnosis
  • Chest Pain* / etiology
  • Diagnosis, Differential
  • Electrocardiography* / methods
  • Fabry Disease* / complications
  • Fabry Disease* / diagnosis
  • Female
  • Humans
  • Hypertrophy, Left Ventricular* / diagnosis
  • Hypertrophy, Left Ventricular* / physiopathology