Marfan syndrome

Created 09/05/2023, last revision 09/05/2023

  • Marfan syndrome is an inherited connective tissue disorder
  • people with Marfan syndrome are usually tall and thin with unusually long arms, legs, fingers, and toes; the condition may become life-threatening due to aortic involvement


  • inherited connective tissue disease
    • familial form (75%)
    • sporadic form (25%)
  • AD inheritance, many mutations
    • FBN1 gene (15q15-q21.1) and FBN2 gene (5q23-q31) – encodes fibrillin
    • TGFBR2 (transforming growth factor-beta receptor 2) gene, locus 3p22
    • TGFBR1 gene, locus 9q22
  • skeletal, ocular, and cardiac involvement typically predominates; vascular involvement is characterized by altered tunica media

Mutations in the FBN1 gene cause connective tissue to be weaker. It is also believed that mutated fibrillin does not control the excess TGFB, and its increased activity leads to pathological changes in various body organs. This regulatory role is also impaired in the case of mutations in the transforming growth factor beta receptor genes, TGFBR1 and TGFBR2.

Clinical presentation

Neurovascular symptoms

  • stroke due to:
    • dissection of cerebral arteries  Right CCA and ICA dissection and left ICA pseudoaneurysm in a patient with Marfan syndrome.
    • cardioembolism (valvular dysfunction, arrhythmias)
    • (pseudo) aneurysm formation (rupture or embolization from the sac)

Cardiovascular symptoms

  • common cause of fatal complications (cause of death in up to 90%)
  • dilation (up to 80%) or dissection of the ascending aorta [Hwa, 1993]
    • incipient dilatation is often seen by the end of the first decade of life
  • frequent aortic regurgitation, mitral valve prolapse
  • dilation of the pulmonary artery

Skeletal malformations

  • tall figure
  • long, thin limbs
  • hypermobile joints
    • thumb sign – thumb extends beyond the ulnar edge of the hand when fingers are clenched into a fist
    • wrist sign – thumb extends beyond index finger when the wrist is grasped
  • scapula alata
  • pectus carinatum or excavatum
  • pes planus
  • arachnodactyly
  • scoliosis and other spinal deformities
  • dolichocephaly
Marfan syndrome
Marfan syndrome - thumb and wrist sign

Ophthalmologic symptoms

  • lens ectopia (up to 50% of cases)
  • myopia
  • tendency to retinal detachment

Diagnostic evaluation

Diagnostic criteria for Marfan syndrome
Negative family history
Positive family history
Aortic root dilalation in Marfan syndrome
Dilated descending and abdominal aorta in Marfan syndrome


  • only symptomatic therapy
  • skeletal monitoring
  • heart and aorta ultrasound each year
  • regular ophthalmologic exams
  • pregnancy is not recommended
  • standard stroke treatment and prevention
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Marfan syndrome