Marfan syndrome

Marfan syndrome is a multisystem connective tissue disease with autosomal dominant inheritance of a defect in the 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 the 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 is 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. Either two major and one minor feature or one major and four minor features are required for diagnosis.

Results from a defect in the 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 a Marfanoid phenotype 9.

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

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, calcium-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 Beals syndrome have some features of Marfan syndrome
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Article information

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

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Cases and figures

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    Case 1: with arterial dissection
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    Case 2: with dural ectasia
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    Case 3: with aortic root dilatation
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    Case 4: with descending thoracic aortic aneurysm
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    Case 5: with severe pectus excavatum
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    Case 6: affecting hips
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