Genetics1

Question 1

How is Marfan’s inherited

Answer 1

Autosomal dominant

Question 2

Define marfans

Answer 2

connective tissue defect due to cystic medial degeneration

Question 3

What does marfans effect

Answer 3

lens of the eye, MVP, aneurysms

Question 4

What is the defect in Marfan’s

Answer 4

fibrillin on chromosome 15

Question 5

How is Ehlers Danlos inherited

Answer 5

Autosomal dominant

Question 6

What type of tissue is affected

Answer 6

type 3 collagen defect

Question 7

What problems are most life threatening in Ehlers Danlos

Answer 7

cardiac problems and arterial rupture involving mesenteric vessels

Question 8

Define Loeys-Dietz

Answer 8

aneurysm syndrome with systemic involvement

Question 9

How is Loeys Dietz inherited

Answer 9

Autosomal dominant

Question 10

What causes Loeys Dietz

Answer 10

heterozygous change of TGFb

Question 11

What is seen in Loeys Dietz

Answer 11

arterial tortuosity, aneurysms, wide eyes, bifid uvula, cleft palate

Question 12

MC congenital malformation of the great vessels

Answer 12

congenital bicuspid aortic valve

Question 13

What are patients with congenital bicuspid aortic valve at risk for

Answer 13

increased risk of ascending aortic aneurysm