Marfan syndrome

Question 1

What is the CVS clinical manifestation of Marfan syndrome?

Answer 1

Aortic Disease

• Aortic aneurysm w/ Aortic root dilation
• Aortic regurgitation
• Aortic dissection (typically of the thoracic aorta)

Mitral valve prolapse – Murmur, CCF, Cardiogenic Shock

Berry aneurysms 🡪 SAH

Question 2

What is the MSK clinical manifestation of Marfan syndrome?

Answer 2

• Tall stature with long extremities
• Joint hypermobility
• High-arched palate
• Arachnodactyly (achromachia) – abnormally long & slender fingers & toes
• Pectus deformity: pectus carinatum (more specific for Marfan) or pectus excavatum
• Pes planus (flat foot) or hindfoot valgus
• Spinal deformities (scoliosis, hyperkyphos

Question 3

What is the skin clinical manifestation of Marfan syndrome?

Answer 3

Loss of skin elasticity/striae (stretch marks)

Question 4

What is the eye clinical manifestation of Marfan syndrome?

Answer 4

• Visual impairment: ectopia lentis (lens dislocation) 🡪 lens subluxation superiorly and temporally
• Severe myopia

Question 5

What are the investigations needed for Marfan?

Answer 5

• Echocardiography – for CV manifestations
• Slit Lamp Exam – to assess lens abnormalities
• Skeletal XR
• MRI (for dural ectasia in Marfan)