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Marfan Syndrome

Michele Roberts, MD, PhD Reviewed 06/2019
 


BASICS

DESCRIPTION

  • Marfan syndrome (MFS) is an inherited disorder of connective tissue.

  • Because many features of MFS appear in the general population, specific diagnostic criteria (Ghent nosology) were ...

DIAGNOSIS

  • In the revised Ghent nosology: Diagnosis of MFS is made in a person without a known family history of MFS, who has at least one of the following sets of features:

    • An FBN1 pathogenic variant...

TREATMENT

Comprehensive multidisciplinary management: clinical geneticist, cardiologist, ophthalmologist, orthopedist, and cardiothoracic surgeon 

MEDICATION

  • Prevention of aortic complications: β-blocke...

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

  • Avoid sports that can increase aortic root enlargement or pneumothorax; in general, avoid contact sports, Valsalva, breathing against resistance, and exercise to ...

REFERENCES

1
Loeys BL, Dietz HC, Braverman AC, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet.  2010;47(7):476–485. [View Abstract on OvidMedline]
2
Sartor L, Forteza A. Stra...

CODES

ICD10

  • Q87.40 Marfan’s syndrome, unspecified

  • Q87.43 Marfan’s syndrome with skeletal manifestation

  • Q87.418 Marfan’s syndrome with other cardiovascular manifestations

  • Q87.42 Marfan’s syndrome with ocul...

CLINICAL PEARLS

  • Because many features of MFS appear in the general population, diagnostic criteria have been established. Molecular diagnostic testing for FBN1 mutations will play an increasing role.

  • S...

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