Li Yuanzhu, Huang Bi, Luo Suxin
Department of Cardiology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China.
Cardiovascular Disease Laboratory, Chongqing Medical University, Chongqing, China.
Front Cardiovasc Med. 2025 May 30;12:1483283. doi: 10.3389/fcvm.2025.1483283. eCollection 2025.
Fabry disease (FD) is a rare genetic disorder caused by mutations in the 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.
法布里病（FD）是一种由基因突变引起的罕见遗传性疾病，会影响多个器官。超过60%的患者会出现与心脏相关的问题，主要是心律失常。与典型病例不同的是，这些心律失常情况复杂，通常对标准抗心律失常药物反应不佳，有时还会使症状恶化。本文介绍了一例阵发性心房颤动的法布里病患者通过双侧肺静脉冷冻消融术成功治疗的病例研究，取得了积极的治疗效果。此外，我们首次进行了分子对接研究，以评估E358del的酶-底物结合情况，证实了与实验室实验相似的结果。我们的研究结果强调了人工智能在更好地理解法布里病方面的潜在作用，旨在为管理与法布里病相关的心律失常提供见解。
