Fabry disease is an X-linked lysosomal storage disorder in which cardiac involvement represents the leading cause of mortality. Despite continuous advances in diagnostic approaches, including genetic testing and cardiac imaging, delayed diagnosis and inappropriate management remain major clinical challenges, resulting in substantial impairment of quality of life and survival. Therefore, the establishment of a comprehensive, life-cycle management strategy encompassing screening, diagnosis, individualized treatment, and lifelong follow-up is essential to improve patient outcomes. In this review, we summarize recent advances in the epidemiology, genotype-phenotype correlations, diagnosis, and treatment of Fabry cardiomyopathy, and propose a novel concept for the life-cycle management of patients with Fabry cardiomyopathy.
