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Marfan Syndrome

Jana Wei Qiao, MD and Karl T. Clebak, FAAFP, MHA, MD Reviewed 06/2022
 


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) have ...

DIAGNOSIS

  • In the revised Ghent (Ghent II) 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 pathogeni...

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.  [Vi...

ADDITIONAL READING

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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