The Cardiovascular Manifestations of Anderson-Fabry Disease

Purpose of Review Anderson Fabry Disease (AFD) is a rare progressive X-linked lysosomal storage disease. AFD's clinical manifestations predominantly involve the renal, cerebrovascular, and cardiovascular systems. This review focuses on the cardiovascular manifestations of AFD, the role of cardiovascular imaging in its diagnosis, and available treatment options. Recent Findings AFD has classically been considered a disease of males, and females were thought to be paucisymptomatic carriers. However, in recent years, females are now known to also experience clinical manifestations of AFD. Females with active disease can range from asymptomatic to severely symptomatic, similar to the degree seen in males. Cardiac magnetic resonance (CMR) imaging and echocardiography can aid in the diagnosis of AFD, with characteristic patterns of late gadolinium enhancement usually seen on CMR. While enzyme replacement therapy has been a therapeutic option for almost two decades, migalastat, a chaperone therapy for those patients with susceptible genetic variants, is a more recently available therapy. Other strategies focus on symptom management. Summary AFD can cause significant cardiovascular morbidity, and diagnosis and treatment require a high index of clinical suspicion. Once the diagnosis of AFD is confirmed, therapeutic options should be promptly considered. Therapeutic advances have allowed physicians to both diagnose and monitor treatment for AFD patients more successfully in recent years.