Could Fabry Disease Cause Giant Coronary Aneurysms in a 7‐Month‐Old Infant: A Case Report

ABSTRACT

Fabry disease is a rare X‐linked lysosomal storage disorder that can affect multiple organs. Cardiac involvement, one of its significant manifestations, can begin in childhood and is more prevalent in males, with severity increasing with age and disease progression. The most common cardiac feature in childhood is left ventricular hypertrophy (LVH), a significant contributor to morbidity and early mortality in adulthood. Other cardiac complications in Fabry disease include atrial fibrillation, ventricular tachycardia, conduction abnormalities, valvular insufficiency, hypertension, and coronary artery disease (CAD). While life‐threatening cardiac symptoms are typically absent in children, accelerated atherosclerosis can lead to CAD in adults. No prior reports have documented coronary artery disease in pediatric Fabry disease patients. We present the case of a 7‐month‐old infant who was admitted with prolonged fever, elevated inflammatory markers, and giant coronary artery aneurysms. Initially diagnosed and treated as atypical Kawasaki disease, further investigations identified a GLA mutation, suggesting Fabry disease as a possible contributing factor.