marfan syndrome

Question 1

what is marfan sydnrome

Answer 1

a genetic disorder of defective connective tissue

Question 2

what causes Marfan syndrome

Answer 2

-fibrillin 1 structural protein dysfucntion due to FBN1 gene mutation.
- it is autosomal dominent
- compromised extracellular matrix e.g. elastic fibers
- fibrillin losses -> increased transforming growth factor beta (TGF-B) lead to decreased vascular muscle, esxtracellular matrix -> compromised strength, elasticity leading to the marfanoid appearance

Question 3

Risk factors of Marfan disease

Answer 3

• since its a hereditary disease, the main risk facotor is with those with family history

Question 4

what are the signs and symptoms of marfans syndome

Answer 4

EYES
- bilateral cranial, tempral dislocation of lens, highly specific
- retinal detachment
- the downward slant of palpebral fissures
SKELETAL
- tall, slim with long slender limbs
- narrow, arches palate
HEART
- aortic root dilation
- floppy valve syndrome
- aortic dilation causes aortic valve insufficiency
LUNGS
- blebs, bullae
BLOOD VESSELS
- cystic medical necrosis of aorta, aortic incompetence, dissecting aortic aneurysms
SKIN
- stria

Question 5

How is Marfan syndrome diagnosed and treated

Answer 5

• dignoses is normally with a history and physical exam. using Ghent nosology criteria and genetic testing of the FBN1 mutation.

TREATMENT
- beta blockers - slow aortic dilation
- angiotensin receptor blockers (decrease TGF-B signalling and slow aortic dilation).
- surgery - valve, lens replacement, aortic dissection repair.
- physiotherapy and routine aortic, heart, opthlamic screaning.