Key result
Extensive myxomatous valve degeneration in Marfan syndrome linked to amaurosis fugax as an embolic source.
Case Report (n=1)
No
Myxomatous degeneration of cardiac valves in Marfan syndrome can serve as a potential embolic source for transient ischemic attacks such as amaurosis fugax.
May support valve evaluation in young Marfan patients with amaurosis fugax; leaves open need for prospective cohort confirmation.
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.
No takes yet. Share an insight, caveat, or question.
Sato et al. (2024) conducted a case report in Marfan syndrome with amaurosis fugax (n=1). Bentall operation and mitral valve replacement was evaluated. Extensive myxomatous degeneration of the aortic and mitral valves in a 28-year-old male with Marfan syndrome was identified as the likely embolic source of his amaurosis fugax.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: