Tognola Chiara, Ruzzenenti Giacomo, Maloberti Alessandro, Varrenti Marisa, Mazzone Patrizio, Giannattasio Cristina, Guarracini Fabrizio
Clinical Cardiology Unit, De Gasperis Cardio Center, Niguarda Hospital, 20162 Milan, Italy.
School of Medicine and Surgery, University of Milano-Bicocca, 20126 Milan, Italy.
Diagnostics (Basel). 2025 Jan 9;15(2):139. doi: 10.3390/diagnostics15020139.
Anderson-Fabry disease (AFD) is a rare X-linked lysosomal storage disorder characterized by the accumulation of globotriaosylceramide, leading to multi-organ involvement and significant morbidity. Cardiovascular manifestations, particularly arrhythmias, are common and pose a considerable risk to affected individuals. This overview examines current approaches to arrhythmic risk stratification in AFD, focusing on the identification, assessment, and management of cardiac arrhythmias associated with the disease. We explore advancements in diagnostic techniques, including echocardiography, cardiac MRI, and ambulatory ECG monitoring, to enhance the detection of arrhythmogenic substrate. Furthermore, we discuss the role of genetic and biochemical markers in predicting arrhythmic risk and the implications for personalized treatment strategies. Current therapeutic interventions, including enzyme replacement therapy and antiarrhythmic medications, are reviewed in the context of their efficacy and limitations. Finally, we highlight ongoing research and future directions with the aim of improving arrhythmic risk assessment and management in AFD. This overview underscores the need for a multidisciplinary approach to optimize care and outcomes for patients with AFD.
安德森-法布里病（AFD）是一种罕见的X连锁溶酶体贮积症，其特征是球三糖神经酰胺蓄积，导致多器官受累和严重发病。心血管表现，尤其是心律失常，很常见，对受影响个体构成相当大的风险。本综述探讨了AFD中心律失常风险分层的当前方法，重点关注与该疾病相关的心律失常的识别、评估和管理。我们探索诊断技术的进展，包括超声心动图、心脏磁共振成像和动态心电图监测，以加强对致心律失常基质的检测。此外，我们讨论了基因和生化标志物在预测心律失常风险中的作用以及对个性化治疗策略的影响。当前的治疗干预措施，包括酶替代疗法和抗心律失常药物，在其疗效和局限性的背景下进行了综述。最后，我们强调正在进行的研究和未来方向，旨在改善AFD中心律失常的风险评估和管理。本综述强调了采用多学科方法优化AFD患者护理和治疗结果的必要性。
