Marfan Syndrome Flashcards

1
Q

What is the genetic componet of marfan syndrome?

A

Autosomal dominant

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2
Q

What organs are involved in marfan syndrome?

A
Eye
Skeleton
Heart
Aorta
Lung
Skin
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3
Q

What are the s/s of the heart in marfan syndrome?

A
  • MVP

- Aortic root dilation

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4
Q

What are the s/s of the lung in marfan syndrome?

A
  • Spontaneous pneumothorax

- Sleep apnea

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5
Q

What are the s/s of the skin in marfan syndrome?

A

Striae atrophicae

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6
Q

What are the s/s of the eye in marfan syndrome?

A
  • Lens displacement

- Risk of retinal detachment

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7
Q

What are the s/s of the MSK in marfan syndrome?

A
  • Increased limb and finger length/sternal deformity

- Ligamentous laxity

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8
Q

What are the s/s of the mouth/throat in marfan syndrome?

A
  • Arched palate
  • Crowded dentition
  • Malocclusion
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9
Q

What is involved in diagnostic testing of marfan syndrome?

A

Ophthalmologic exam with pupil dilation

Transthoracic Echo

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