Marfans

Question 1

How to diag Marfans without family history

Answer 1

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

Question 2

How to diagnose Marfan if family history is positive

Answer 2

Only one feature is enough

1. Ectopia lentis
2. Aortic root Z -2 or more(3 if less than 20)
3. Systemic score-7

Question 3

Dd of Marfans in <20 yrs

Answer 3

1. Potential Marfan syndrome (if FBN1 mutation is present or family history is present ) monitor till Aortic Z is equal to 3
2. Non specific Connective tissue disorder- systemic score <7 and or Aortic root <3(FBN negative)

Question 4

Dd of Marfan in more than 20 yr old

Answer 4

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

Question 5

Diagnostic criteria for Marfan

Answer 5

2010 Revised Ghent Nosology

Question 6

The main four features used to make a diagnosis of Marfan

Answer 6

1. Aortic root
2. Ectopia lentis
3. Systemic score and
4. Family history/ Genetics

Question 7

Marfan related disorders with Ectopia lentis

Answer 7

1. Ectopia lentis syndrome( Aortic root is not involved)

2. Homocystinuria(MVP,skeletal findings,Mental retardation, Arterial And Venous thrombosis

Question 8

Marfan related disorders with Aortic root enlargement

Answer 8

FLAME

1. Loeys-Dietz syndrome
2. FTAAD- no skeletal features
3. Arterial tortousity syndrome
4. Ehler Danlos syndrome ( thin lips, small chin,thin nose, large eyes)
5. 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

Question 9

Aortic root enlargement with large eyes

Answer 9

Ehler Danlos

Question 10

FTAAD syndrome is

Answer 10

Familial Thoracic Aortic Aneurysm and Dissection syndrome

Question 11

MASS phenotype

Answer 11

MVP/Myopia
Aortic root dilatation(z score <2)
Skin striae
Skeletal abnormalities

Question 12

Upper/Lower segment ratio in Marfans should be

Answer 12

Lesser than 0.85 in whites and <0.78 in blacks

Question 12

Arm span /Ht ratio in Marfan should be

Answer 12

More than 1.05

Question 13

How to differentiate Marfans from Loeys-Dietz syndrome

Answer 13

Split uvula is seen in LDS