Marfans Flashcards

1
Q

How to diag Marfans without family history

A

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

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2
Q

How to diagnose Marfan if family history is positive

A

Only one feature is enough

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

Dd of Marfans in <20 yrs

A
  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)
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4
Q

Dd of Marfan in more than 20 yr old

A

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

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5
Q

Diagnostic criteria for Marfan

A

2010 Revised Ghent Nosology

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6
Q

The main four features used to make a diagnosis of Marfan

A
  1. Aortic root
  2. Ectopia lentis
  3. Systemic score and
  4. Family history/ Genetics
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7
Q

Marfan related disorders with Ectopia lentis

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

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

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8
Q

Marfan related disorders with Aortic root enlargement

A

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

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9
Q

Aortic root enlargement with large eyes

A

Ehler Danlos

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10
Q

FTAAD syndrome is

A

Familial Thoracic Aortic Aneurysm and Dissection syndrome

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11
Q

MASS phenotype

A

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

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12
Q

Upper/Lower segment ratio in Marfans should be

A

Lesser than 0.85 in whites and <0.78 in blacks

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12
Q

Arm span /Ht ratio in Marfan should be

A

More than 1.05

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13
Q

How to differentiate Marfans from Loeys-Dietz syndrome

A

Split uvula is seen in LDS

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