Marfan syndrome

Marfan syndrome is a multisystem connective tissue disease with autosomal dominant inheritance of defect in fibrillin 1 gene. The affected patients are tall with long disproportionate extremities and have pectus excavatum, arachnodactyly, and may also experience upward and lateral optic lens dislocation. Cardiovascular disease is common, particularly aortic root dilatation and dissection which is the most common cause of sudden death in these patients.

It is inherited in autosomal dominant fashion in a majority of cases, although up to a one-third of cases result from spontaneous mutations. The disease has a high penetrance with variable expression. The estimated prevalence ranges around 2-6 per 100,000 2,5. There is no recognised gender or racial predilection.

The Ghent nosology was established in 1995 for clinical diagnosis of the disease 7. Individuals require either two major and one minor feature or one major and four minor feature for diagnosis

Results from a defect in fibrillin 1 (FBN1) gene located on chromosome 15q21.1 that is responsible for cross-linking collagen. Studies show a regulatory relationship between extracellular microfibrils and TGFβ signalling, so an abnormality in either can cause Marfanoid phenotype 9.

Skeletal
Cardiovascular

Cardiovascular complications are predominantly due to cystic medial necrosis of the vessels and are the most frequent cause of death 2.

Ocular
Chest

Please refer to individual articles for the respective characteristics.

Beta blockers are shown to reduce the rate of aortic root dilatation. In patients who can not take beta-blockers, Ca channel blockers are used. More recently, investigators found that angiotensin receptor blockers which are also TGFβ antagonists significantly reduce cardiovascular and other somatic features 9

First described in 1896 by Antoine Bernard-Jean Marfan, French paediatrician (1858-1942).

  • patients with Loeys-Dietz syndrome have similar features to Marfan syndrome
  • patients with homocystinuria may resemble those with Marfan syndrome in some aspects 8; ectopia lentis, however, is downward as opposed to Marfan and intellectual disability is also a common feature
  • patients with multiple endocrine neoplasia type IIb may have a Marfan syndrome like body habitus 
  • patients with the Beals syndrome have some features of Marfan syndrome
Share Article

Article Information

rID: 9089
Section: Syndromes
Synonyms or Alternate Spellings:
  • Marfan's disease
  • Marfan's syndrome
  • Marfan disease

Support Radiopaedia and see fewer ads

  • Drag
    Right
    Case 1: with arterial dissection
    Drag here to reorder.
  • Drag
    Case 2: with dural ectasia
    Drag here to reorder.
  • Drag
    Case 3: with aortic root dilatation
    Drag here to reorder.
  • Drag
    Case 4: with descending thoracic aortic aneurysm
    Drag here to reorder.
  • Drag
    Case 5: with severe pectus excavatum
    Drag here to reorder.
  • Drag
    Pelvis
    Case 6: affecting hips
    Drag here to reorder.
  • Updating… Please wait.
    Loadinganimation

    Alert accept

    Error Unable to process the form. Check for errors and try again.

    Alert accept Thank you for updating your details.