Marfan Syndrome and Stroke

• Marfan syndrome is an autosomal dominant inherited disorder of the connective tissue
• Incidence of around 1 in 9800 and 27% of cases arise from new mutation.

Aetiology

• Weakness of the blood vessels, especially the aorta
• Progressive dilatation of the aortic root leading to aortic regurgitation, dissection, or rupture
• Possible association between Marfan syndrome and intracranial aneurysms

Clinical

• Classic triad of ocular, skeletal, and cardiovascular systems
• Thin tall stature, pectus carinatum or excavatum, scoliosis
• Joint hypermobility, arachnodactyly, pes planus
• A high arched palate, and ectopia lentis
• Aortic root dilation, usually maximal at the sinus of Valsalva
• Associated with aortic valve incompetence
• Mitral valve prolapse with incompetence may be significant

Investigations

• Assessment of family history, affected relatives Fibrillin 1 mutation testing if indicated
• Transthoracic echo
• Diagnosis by Ghent diagnostic nosology

Management

• Stroke is uncommon
• Prophylactic aortic surgery should be considered when the aortic root at the Sinus of Valsalva exceeds 5cm

References

• Marfan syndrome: clinical diagnosis and management.