Marfans Flashcards
How to diag Marfans without family history
Aortic root aneurysm (Z-2or more)
And ECTOPIA LENTIS
If only one look for SYSTEMIC SCORE of 7 or go for GENETIC STUDY-FBN1 mutation
How to diagnose Marfan if family history is positive
Only one feature is enough
- Ectopia lentis
- Aortic root Z -2 or more(3 if less than 20)
- Systemic score-7
Dd of Marfans in <20 yrs
- Potential Marfan syndrome (if FBN1 mutation is present or family history is present ) monitor till Aortic Z is equal to 3
- Non specific Connective tissue disorder- systemic score <7 and or Aortic root <3(FBN negative)
Dd of Marfan in more than 20 yr old
1.Ectopia lentis syndrome (no genetic support)
2. MMASS-Myopia, MVP,Aortic root upperlimit of normal, Striae, Skeletal findings
Z score<2 and Systemic score at least 5 without Ectopia lentis
3. MVP syndrome-Aortic root less than 2, Systemic score less than 5 and no Ectopia lentis. Also commonly has Pectus Excavatum,Scoliosis and mild Arachnodactyly
Diagnostic criteria for Marfan
2010 Revised Ghent Nosology
The main four features used to make a diagnosis of Marfan
- Aortic root
- Ectopia lentis
- Systemic score and
- Family history/ Genetics
Marfan related disorders with Ectopia lentis
- Ectopia lentis syndrome( Aortic root is not involved)
2. Homocystinuria(MVP,skeletal findings,Mental retardation, Arterial And Venous thrombosis
Marfan related disorders with Aortic root enlargement
FLAME
- Loeys-Dietz syndrome
- FTAAD- no skeletal features
- Arterial tortousity syndrome
- Ehler Danlos syndrome ( thin lips, small chin,thin nose, large eyes)
- MASS phenotype
Familial Thoracic Aorta Aneurysm And Dissection
Others: Beals syndrome- Similar to Marfan But cannot extend joints completely
Stickler syndrome- Some similarity But short stature
Aortic root enlargement with large eyes
Ehler Danlos
FTAAD syndrome is
Familial Thoracic Aortic Aneurysm and Dissection syndrome
MASS phenotype
MVP/Myopia
Aortic root dilatation(z score <2)
Skin striae
Skeletal abnormalities
Upper/Lower segment ratio in Marfans should be
Lesser than 0.85 in whites and <0.78 in blacks
Arm span /Ht ratio in Marfan should be
More than 1.05
How to differentiate Marfans from Loeys-Dietz syndrome
Split uvula is seen in LDS