Marfan syndrome

Marfan syndrome is a multisystem connective tissue disease caused by a defect in the fibrillin 1 gene. Cardiovascular involvement with aortic root dilatation and dissection is the most feared complication of the disease.

The estimated prevalence is around 2-6 per 100,000 2,5. There is no recognised gender or racial predilection.

    Patients with Marfan syndrome may have the following symptoms and signs on history and examination:

    Patients may present with complications of the disease such as, aortic dissection and pneumothorax.

    The Ghent nosology was established in 1995 for the clinical diagnosis of the disease 7.

    The condition is thought to result from an inherited or de novo mutation in the fibrillin 1 (FBN1) gene located on chromosome 15q21.1 which is responsible for cross-linking collagen. In the majority of cases it is inherited in an autosomal dominant fashion, although in up to one-third of cases the mutation is de novo. The disease has high genetic penetrance but with variable phenotypic expression even amongst effected family members.

    Studies show a regulatory relationship between extracellular microfibrils and TGFβ signalling, so an abnormality in either can cause a Marfanoid phenotype 9.

    Microscopically the arterial walls may show cystic medial necrosis 10.

    There are no specific radiographic features of Marfan syndrome but the following signs and complications of the disease may be seen in each system on a range f modalities:

    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. Cardiovascular complications are the most frequent cause of death 2.

    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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