THE ROLE OF ELECTROCARDIOGRAPHY IN THE DIAGNOSIS AND MONITORING OF FABRY DISEASE: A COMPREHENSIVE REVIEW

Jakub Jakubowski; Karol Kraska; Nadzieja Krasucka; Aleksandra  Zynkowska; Aleksandra Skrzyniarz; Maria  Kiełbus; Julia Oziębło; Magdalena  Kijowska; Karolina Klusek; Michał  Batory

doi:10.31435/ijitss.3(51).2026.6093

Authors

Jakub Jakubowski Medical University of Warsaw, Poland https://orcid.org/0009-0009-0269-1371
Karol Kraska Medical University of Lublin, Poland https://orcid.org/0009-0003-8113-2151
Nadzieja Krasucka Medical University of Lublin, Poland https://orcid.org/0009-0007-2777-892X
Aleksandra Zynkowska Medical University of Lublin, Poland https://orcid.org/0009-0005-1759-5842
Aleksandra Skrzyniarz Medical University of Lublin, Poland https://orcid.org/0009-0003-0065-643X
Maria Kiełbus Medical University of Lublin, Poland https://orcid.org/0009-0003-1946-3013
Julia Oziębło Medical University of Lublin, Poland https://orcid.org/0009-0008-9794-9824
Magdalena Kijowska Medical University of Lublin, Poland https://orcid.org/0009-0004-1086-7086
Karolina Klusek Medical University of Lublin, Poland https://orcid.org/0009-0004-7006-0188
Michał Batory No. 1 University Clinical Hospital in Lublin, Poland https://orcid.org/0009-0008-7018-7823

DOI:

https://doi.org/10.31435/ijitss.3(51).2026.6093

Keywords:

Fabry Disease, Electrocardiography, PR Interval, Left Ventricular Hypertrophy, Arrhythmia, Screening

Abstract

Anderson-Fabry disease (FD) is a rare, X-linked lysosomal storage disorder in which the progressive accumulation of globotriaosylceramide (Gb3) leads to widespread multi-organ damage, with cardiac involvement serving as the primary cause of mortality. This comprehensive review aims to summarize the current state of knowledge regarding the clinical application of electrocardiography (ECG) as a pivotal and cost-effective tool in the management of patients with FD. The paper systematically categorizes ECG findings across the various stages of the disease's progression. Early stages are typically characterized by a shortened PR interval and increased QRS complex voltages, which frequently manifest prior to the development of structural changes identifiable through echocardiography. In the more advanced stages of the disease, the predominant features include signs of left ventricular hypertrophy (LVH), ST-segment depressions, and deep T-wave inversions, which often mimic the presentation of hypertrophic cardiomyopathy or myocardial ischemia. Furthermore, this review discusses the evolution of conduction disturbances, including atrioventricular blocks and atrial fibrillation, while emphasizing the absolute necessity of Holter monitoring for effective arrhythmia risk stratification. The impact of enzyme replacement therapy (ERT) on the stabilization of ECG patterns is evaluated, indicating that early clinical intervention is crucial for the prevention of irreversible electrical remodeling. In conclusion, despite the ongoing development of advanced imaging modalities, the standard 12-lead ECG remains a fundamental and indispensable tool that shortens the diagnostic odyssey and allows for the precise monitoring of treatment efficacy in Fabry disease.

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