Marfan Syndrome

defining characteristics

Extremely tall (arm span longer than height), long fingers, dilated aortic root, ectopia lentis-dislocated lens, pectus carinatum OR pectus excavatum

disease development

Connective tissue disorder caused by missense mutations in FBN-1 gene on q15, disrupting TGF-B-fibrillin complex and increasing amount of active TGF-B

potential causes

Abnl Fibrillin protein

epidemiology

risk factors

labimaging

Clinical exam tests? Walker Murdoch wrist sign, Steinberg thumb sign

conventional treatment

Currently testing use of angiotensin II type I receptor antagonist (Losartan)

complications

prevention

protocols