- Cardiac involvement: hypertrophic cardiomyopathy, arrhythmias, and heart failure are common, progressive, and major determinants of prognosis and quality of life.
- Neurologic manifestations include cerebrovascular events and peripheral neuropathy, causing substantial morbidity and reduced quality of life requiring early recognition.
- Early diagnosis and initiation of disease-modifying therapies enable cardiologists and neurologists to prevent long-term cardiac and neurologic damage.
Heart Fail Clin. 2026 Oct;22(4):451-462. doi: 10.1016/j.hfc.2026.07.005. Epub 2026 Jul 30.
ABSTRACT
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.
PMID:42716655 | DOI:10.1016/j.hfc.2026.07.005
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