What Marfan syndrome is and easy way to remember important marfan syndrome features with this Marfan syndrome Mnemonic “MARFANS”
Marfan syndrome is an inherited disorder of connective tissue (connective tissue supports and anchors our organs and other structures in our body). Marfan syndrome most commonly affects the eyes, heart, blood vessels and skeletal system.
Important marfan syndrome features:
- Autosomal dominant (with variable expression)
- FBN1 gene mutation on chromosome 15, defective fibrillin-1
- Tall with long extremities
- Chest wall deformity (pectus carinatum [pigeon chest] or pectus excavatum
- Hypermobile joints; long, tapering fingers and toes (arachnodactyly)
- Cystic medial necrosis of aorta; aortic root aneurysm rupture or dissection (most common cause of death); mitral valve prolapse
- Subluxated lense, retinal detachment
- Negative Nitroprusside test (+ve in Homocystinuria)
Remember all the features with this Marfan syndrome Mnemonic: “MARFANS”
Mitral valve prolapse (Medial necrosis of Aorta)
Aortic aneurysm
Retinal detachment
Fibrillin defect (FBN1 gene mutation on Ch. Fifteen)
Arachnodactyly
Negative Nitroprusside test (+ve in Homocystinuria)
Subluxated lense
You can also remember this way:
M: mitral valve prolapse
A: aortic dissection / aortic aneurysm
R: regurgitant aortic valve / retinal detachment
F: fibrillin-1 mutation
A: arm span > height / arachnodactyly
N: near-sightness / nasal voice (high-arched palate)
S: scoliosis / subluxated lens
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