Fabry disease cardiomyopathy: Time for a closer heart rhythm monitoring?

Cardiovascular disease represents the leading cause of death in patients with Anderson-Fabry disease (FD), with sudden cardiac death (SCD) being one of the most frequently reported causes of mortality. However, a significant diagnostic gap persists in identifying patients at risk, as current stratification tools are inadequate for predicting lethal arrhythmic events. This narrative review resumes the existing peer-reviewed literature regarding the pathophysiology of FD arrhythmias and evaluates the diagnostic limitations of the current standard intermittent monitoring tools, such as the 24-hour Holter. Standard monitoring tools, such as the 24-hour Holter often miss paroxysmal, asymptomatic arrhythmias. Recent studies using implantable loop recorders (ILRs) show a significantly higher burden of arrhythmias than previously recognized. Myocardial fibrosis, identified as late gadolinium enhancement (LGE) on cardiac magnetic resonance (CMR), is strongly associated with malignant arrhythmias, together with the degree of left ventricular hypertrophy (LVH). Current consensus statements may underestimate the need for continuous monitoring in FD. By providing a comprehensive narrative synthesis of available observational and registry data, this paper proposes an updated, exploratory risk-stratification clinical guide for the extension of countinuous rhythm monitoring in high-risk subgroups of FD.