Differentials
Aortic dissection not associated with Marfan syndrome
SIGNS / SYMPTOMS
No eye or musculoskeletal findings.
Relevant family history in familial dissections.
Bicuspid aortic valve
SIGNS / SYMPTOMS
No eye or musculoskeletal findings, although occasionally occurs with Marfan syndrome.
INVESTIGATIONS
Echo, thorax CT, or thorax MRI will show abnormal bicuspid aortic valve.
Ehlers-Danlos syndrome
SIGNS / SYMPTOMS
Joint hypermobility more common presentation.
Vascular variety, which most commonly affects the aorta, is characterised by thin skin and bleeding disorders with increased bruising.
INVESTIGATIONS
Skin biopsy for abnormal collagen and DNA testing for gene mutation.[32]
Erdheim's deformity
SIGNS / SYMPTOMS
Flask-like root dilation of the aortic root as in Marfan syndrome, but no eye or musculoskeletal findings or family history.
INVESTIGATIONS
No differentiating tests.
Homocystinuria
SIGNS / SYMPTOMS
Signs and symptoms very similar.
Generalised osteoporosis and disorders of mental development more likely in homocystinuria.
INVESTIGATIONS
Plasma homocysteine levels are elevated.
Loeys-Dietz syndrome
XXY (Klinefelter) syndrome
SIGNS / SYMPTOMS
No associated lens dislocation or aortic aneurysm.
Mental deficiency.
Hypogonadism.
INVESTIGATIONS
Karyotype reveals extra X chromosome.
Marfanoid hypermobility syndrome
SIGNS / SYMPTOMS
X-linked.
No eye or heart involvement.
INVESTIGATIONS
No gene identified.
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