Cryo-ablation management of atrial fibrillation in Fabry disease without agalsidase alpha: a case report

Fabry disease (FD) is a rare genetic disorder caused by mutations in the <i>GLA</i> gene, affecting multiple organs. Over 60% of patients experience heart-related issues, primarily arrhythmias. Unlike typical cases, these arrhythmias are complex and often do not respond well to standard antiarrhythmic drugs, sometimes worsening symptoms. This paper presents a case study of a FD patient with paroxysmal atrial fibrillation successfully treated using bilateral pulmonary vein cryoablation, resulting in positive outcomes. Additionally, we conducted molecular docking studies for the first time to assess the enzyme-substrate binding of E358del, confirming findings similar to laboratory experiments. Our findings underscore the potential role of artificial intelligence in better understanding FD, and aim to provide insights into managing arrhythmias associated with FD.

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Journal
Frontiers in Cardiovascular Medicine
Published
2025-05-30
DOI
https://doi.org/10.3389/fcvm.2025.1483283
Primary Topic
Lysosomal Storage Disorders Research
Type
article
Field-Weighted Citation Impact
0.00

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article

Cryo-ablation management of atrial fibrillation in Fabry disease without agalsidase alpha: a case report

Yuanzhu Li, Suxin Luo, Bi Huang
Frontiers in Cardiovascular Medicine
Lysosomal Storage Disorders Research
article

Cryo-ablation management of atrial fibrillation in Fabry disease without agalsidase alpha: a case report

Yuanzhu Li, Suxin Luo, Bi Huang
article en

Abstract

Fabry disease (FD) is a rare genetic disorder caused by mutations in the <i>GLA</i> gene, affecting multiple organs. Over 60% of patients experience heart-related issues, primarily arrhythmias. Unlike typical cases, these arrhythmias are complex and often do not respond well to standard antiarrhythmic drugs, sometimes worsening symptoms. This paper presents a case study of a FD patient with paroxysmal atrial fibrillation successfully treated using bilateral pulmonary vein cryoablation, resulting in positive outcomes. Additionally, we conducted molecular docking studies for the first time to assess the enzyme-substrate binding of E358del, confirming findings similar to laboratory experiments. Our findings underscore the potential role of artificial intelligence in better understanding FD, and aim to provide insights into managing arrhythmias associated with FD.

Frontiers in Cardiovascular MedicineVol. 12
The Affiliated Yongchuan Hospital of Chongqing Medical University (CN), Chongqing Medical University (CN)
Chongqing Medical University, German Network for Bioinformatics Infrastructure
Good health and well-being
Openalex Percentile: Top 84%
Lysosomal Storage Disorders Research
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Cryo-ablation management of atrial fibrillation in Fabry disease without agalsidase alpha: a case report — Yuanzhu Li, Suxin Luo, et al. · Frontiers in Cardiovascular Medicine (2025) | TGRS Research Map | TGRS