Marfan's disease

A disease in which there are certain cardiovascular problems. Namely, a prolapsed mitral valve, and an aortic dissection and then a patient could subsequently suffer from actasia (?) of the aorta somewhat similar to the syphilitic abnormality where the aortic root just dilates up leading to aortic insufficiency because the valve no longer closes.

Cause and mechanism: An abnormality in fibrilin production because of a genetic defect on chromosome 15.

Fibrilin is normally made as a monomer that goes on to form multimers. In Marfan's disease a defective fibrilin monomer is formed which in turn fails to create viable multimers.

Not all symptoms of the disease are all manifested in one individual with the disease.

Characteristics of Marfan's disease:

- Tall stature - height mostly due to long legs while the torso looks disproportionately short relative to the rest of the body.

- Long arms and digits

- Deformed anterior chest structure - either an inward chest deformity or a pigeon chest deformity (outward chest).

- Thin

- Palate tends to be high and arched.

- Joints tend to be hyperextendable

- a displacement of the lens of the eye - lentis ectopia.

All of these deformities relates to the defect in fibrilin.

Category: Pathology Notes