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 ...
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...
Prevention of aortic complications: β-blocke...
Avoid sports that can increase aortic root enlargement or pneumothorax; in general, avoid contact sports, Valsalva, breathing against resistance, and exercise to ...
Teixido-Tura G, Forteza A, Rodríguez-Palomares J, González Mirelis J, Gutiérrez L, Sánchez V, Ibáñez B, García-Dorado D, Evangelista A. Losartan Versus Atenolol for Prevention of Ao...
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...
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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FIGURE 62.5. Marfan syndrome with hyperinflation, bullous changes, dilated tortuous aorta, and "tall" lungs.
<bold>FIG. 96.1.</bold> Marfan syndrome in a 14-year-old boy. Note arachnodactyly, relatively long limbs (dolichostenomelia), pectus carinatum, sparse subcutaneous fat, unilateral genu valgum, and pes planus. Ectopia lentis and scoliosis also were present. This patient died of aortic rupture at age 15 years.
<bold>FIG. 96.1.</bold> Marfan syndrome in a 14-year-old boy. Note arachnodactyly, relatively long limbs (dolichostenomelia), ...
<bold>FIG. 96.3.</bold> The wrist sign in a patient with Marfan syndrome. In a positive test, the first phalanges of the thumb and fifth digit substantially overlap when wrapped around the opposite wrist.
<bold>FIG. 96.3.</bold> The wrist sign in a patient with Marfan syndrome. In a positive test, the first phalanges of the thumb...
Long, slender fingers (arachnodactyly) in a patient with Marfan syndrome.
<bold>Fig CA 9-9 Marfan's syndrome.</bold> Arteriogram shows enormous dilatation of the aneurysmal ascending aorta.
Evidence of the disproportionate finger length and lean extremity is the ability to wrap fingers around the wrist and overlap the digits.