Heart Disease and Syndromes

Question 1

Kleinfelter

Answer 1

ASD PDA
47 XXY

Question 2

Turners

Answer 2

Bicuspid aortic valve (most common)
Aortic root dilatation
CoA
AS
ASD

45XO

Question 3

VACTERL

Answer 3

VSD

Question 4

T21

Answer 4

AVSD
ASD, VSD, TOF

Question 5

Noonan

Answer 5

PS (most common)
HOCM

AD, single gene RASMAPK pathway
No detectable on MA

Question 6

Williams

Answer 6

Supravalvular AS (75%)
Peripheral pulm stenosis

7q11
MA (deletion)

Question 7

22q11/ Di George

Answer 7

TOF (cyanotic)
Truncus arteriosus (heart failure)

Question 8

Alagille

Answer 8

Branch/ peripheral PS
TOF
ASD, VSD, AS

Question 9

Marfan

Answer 9

Aortic root dilatation
MV prolapse