[Amaurosis fugax in Marfan syndrome with myxomatous degeneration].

ABSTRACT

A 28-year-old male presented with a sudden, transient visual impairment in the right eye. Brain MRI revealed no obvious ischemic lesions, and he was diagnosed with amaurosis fugax. Physical examination revealed characteristic features of Marfan syndrome, along with a family history of tall stature and valvular heart disease. Further investigation revealed 1) an ascending aortic aneurysm, 2) a bicuspid aortic valve with fenestration and regurgitation, and 3) a mitral valve prolapse with regurgitation. Genetic testing identified a heterozygous variant c.6905G>A of FBN1, confirming the diagnosis of Marfan syndrome. Bentall operation and mitral valve replacement were performed, resulting in a favorable outcome. Pathological examination showed extensive myxomatous degeneration with thickening of the aortic and mitral valves, suggesting a potential source of embolism.