Marfan Syndrome Flashcards
Marfan syndrome is caused by
a genetic defect in the glycoprotein fibrillin-1
Marfan syndrome results in abnormalities in the
- Skeleton
- Eyes
- Cardiovascular system
Marfan syndrome abnormalities include
- Long extremities
- Scoliosis
- Pectus excavatum
- Ectopia lentis
- Aortic root disease
Marfanoid Habitus Features
- Increase arm to height ratio
- Ectopia lentis
- Kyphosis or scoliosis
- Joint hypermobility
- Arachnodactylyl
- Flat Feet
- Taller and slender build
- Decreased upper-to-lower body segment ratio
- Breastbone dips inward or protrudes outward
The 2 most common cardiac abnormalities seen in Marfan Syndrome are
mitral valve prolapse and cystic medial degeneration of the aorta
In more than 75% of Marfan Syndrome patients cystic medial degeneration of the aorta results in
aneurysmal dilation
In more than 75% of Marfan Syndrome patients cystic medial degeneration of the aorta results in aneurysmal dilation which if left untreated it can cause
aortic dissection
What is the most common cause of death in Marfan Syndrome patients
aortic dissection
What is the second most common cause of death in Marfan Syndrome patients
cardiac failure secondary to mitral valve prolapse and or aortic regurgitation
____________ is associated with a marganoid body habitus
homocytinuria
What features differentiate homocytinuria from marfans syndrome
- Autosomal recessive
- Intellectual disability
- Thrombosis
- Downward lens dislocation
- Megaloblastic anemia
- Fair complexion
_______ ______ are the most life-threatening complications associated with Marfan Syndrome
Cardiovascular lesions
In Marfan Syndrome early onset cystic medial degeneration of the aorta predisposes to
aortic dissection
List the 2 possible differential diagnoses or marfanoid body habitus
- Marfan Syndrome
2. Homocytinuria
What are the overlapping features of Marfan Syndrome and Homocytinuria
- Pectus deformity
- Tall Stature
- Arachnodactyly
- Joint hyperlaxity
- Skin hyperelasticity
- Scoliosis
