Fabry Disease: Cardiac and Neurologic Involvement

Cardiac and neurologic manifestations are common in Fabry disease (FD) and significantly impact prognosis and quality of life. Cardiac involvement includes hypertrophic cardiomyopathy, arrhythmias, and heart failure, while the main neurologic manifestations are cerebrovascular events and peripheral neuropathy. The progressive nature of these manifestations highlights the importance of early detection and management to prevent long-term damage. This article provides an overview of the key cardiac and neurologic manifestations of FD, offers guidance on when cardiologists and neurologists should suspect FD and start diagnostic evaluation, and summarizes the evidence on the role of disease-modifying therapies in managing cardiovascular and neurologic complications.