Friday, May 12, 2017

Marfan syndrome - High Yield Information.

Hello everybody,
lets today briefly revise all the high yield points on Marfan syndrome.

Marfan syndrome is an example of structural protein disorder and with autosomal dominant inheritance, lets see what exactly goes wrong in this condition.


There is a missense mutation seen in the fibrillin-1 gene located on the chromosome no.15.
So to understand the condition better, lets understand a bit about fibrillin.

Fibrillin forms the glycoprotein component of cellular microfibrils and also provides a scaffold for the elastin deposition.
Abundant fibrillin is found in the connective tissues of the aorta,ligaments and the eye, these are the structures predominantly affected in the disorder too.

The defective fibrillin leads to defective microfibril assembly intracellularly and reduced elasticity in connective tissues.
 Defective fibrillin also leads to decreased TGF-beta(Transforming growth factor ) sequestration, and excess of TGF-B hampers normal vascular smooth muscle development and matrix production.

Morphological Features:

1) Skeletal changes:
    Tall stature with long extremities.
     Long tapering fingers and toes.(Arachnodactyly)
     Kyphosis ans scoliosis.
     Pectus excavatum or Pigeon breast deformity.

2) Cardiovascular changes:
     Aortic regurgitation: Due to aortic cystic medial degeneration leading to valvular ring dilatation & valvular incompetence. Most threatening valvular lesion.
     Mitral valve prolapse : Most common valvular lesion.
     Aortic Dissections are the most common cause of death in these patients.

3) Occular changes:
    Ectopia Lentis: bilateral superotemporal dislocation of lenses.
    Retinal Detachment : due to increased axial length of the globe.


Currently Revised Ghent Criteria is used for the diagnosis of Marfan syndrome.
It considers:
Family history,
Cardinal Clinical Signs in absence of family history,
Presence or absence of Fibrillin Mutation.

so that's all on marfans syndrome.

Fun Fact:
We all have been hearing about some famous personalities with Marfan syndrome like Abraham Lincon and Michael Phelps, but Tutankhamen the 11th pharoh of 18th Egyptian Dynasty was diagnosed to be suffering from Marfan's Syndrome by a series of CT scans and DNA tests carried out on his MUMMY!

Do post any other interesting facts you know about Marfan's Syndrome.

Let's Learn Together!

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