Congenital and Genetic Defects of the CVS

Question 1

What are some of the microdeletion syndromes of the CVS?

Answer 1

22q11 deletion

Williams Syndrome

Question 2

What causes downs syndrome

Answer 2

Trisomy 21

Question 3

What do 15% of individuals with down syndrome also get?

Answer 3

AV septal defect

Question 4

How can downs syndrome be detected in embryonic development?

Answer 4

If there is nuchal translucency

Increased fluid behind the embryo

Question 5

Which congenital heart defect can produce aortic coarctation?

Answer 5

Turner syndrome

Question 6

Which congenital heart defect can also produce pulmonary stenosis?

Answer 6

Noonan syndrome

Question 7

What two other conditions does 22q11 deletion encompass?

Answer 7

DiGeorge

Shprintzen

Question 8

What type of cardiovascular defect will Williams syndrome produce?

Answer 8

Aortic stenosis

Question 9

Marfans syndrome is caused by mutation of what gene?

Answer 9

Fibrillin 1 gene

Question 10

Aneurysms can be caused by which genetic cardiac disease?

Answer 10

Marfans

Question 11

What is the criteria used to assess the risk of Marfans?

Answer 11

Ghent 2010 criteria

Question 12

In the management of Marfans, what things are reviewed annually?

Answer 12

Echo
B-blockers
ARBs

Question 13

What can Long QT syndrome result in?

Answer 13

Syncope

Sudden death