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

## TL;DR

A 44-year-old woman with chest discomfort and a short PR interval was diagnosed with Fabry disease through genetic testing and ECG findings.

## Contribution

The paper highlights the diagnostic significance of a short PR interval combined with left ventricular hypertrophy in identifying Fabry disease.

## Key findings

- ECG findings included a short PR interval, delta wave, and right bundle branch block.
- Genetic testing confirmed a GLA gene mutation (c.700_702del) consistent with Fabry disease.
- The combination of ECG features and symptoms led to a confirmed diagnosis of Fabry disease.

## 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.

The co‐occurrence of short PR interval and left ventricular hypertrophy may indicate conditions such as Fabry disease, Danon disease, PRKAG2 mutation cardiomyopathy, Pompe disease, or mitochondrial disorders. This patient presents with symptoms of anhidrosis and chest discomfort. We identified one heterozygous mutation in exon 5 of GLA. Consequently, the diagnosis of FD was confirmed