Page 58 - Virtual Vascular Vol 8
P. 58
Marfan Syndrome There is scoliosis of the spine. Also note the calcification of his chronic aortic
dissection (red arrow).
Marfan syndrome is an autosomal dominant mutation in FBN1 gene
that encodes fibrillin 1, and this results in abnormal connective tissue
genetic disorder that affects the connective tissue. Diagnosis is based
on the Ghent criteria. Patients tend to be tall and thin, with long
arms, legs, fingers, and toes, with flexible joints and scoliosis. Serious
complications involve the heart and aorta, with an increased risk of
mitral valve prolapse and aortic dissection and aneurysm. Patients
have high palatal arch and are more prone to dislocation of the lens.
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