CHD associations

Question 1

Carpenter syndrome

Answer 1

PDA
VSD
ASD
PS
TOF
TGA

Question 2

Cat Eye Syndrome

Answer 2

TAPVR

Persistent left SVC

Question 3

CHARGE association (50-70%)

Answer 3

TOF
DORV
VSD
ASD
PDA
Right sided aortic arch

Question 4

cornelia de Lange syndrome

Answer 4

VSD most common

Question 5

DiGeorge syndrome

Answer 5

Aortic arch abnormalities (right arch, interrupted aorta, truncus arteriosus)
TOF
PA

Question 6

Ehlers-Danlos syndrome

Answer 6

Aortic root dilatation

Mitral valve prolapse

Question 7

Ellis-van Creveld Syndrome

Answer 7

Common atrium

Question 8

Glycogen storage IIa (Pompe)

Answer 8

Hypertrophic cardiomyopathy (secondary to glycogen deposition)

Question 9

Goldenhar syndrome

Answer 9

VSD
PDA
TOF
CoA

Question 10

Holt-Oram syndrome (>50%)

Answer 10

ASD most common

Question 11

Homocystinuria

Answer 11

Arterial and Venous thromboses

Medial degeneration of aorta and elastic artery

Question 12

Hurler Syndrome

Answer 12

Thickened valves (especially mitral)
Coronary artery disease
Hypertrophic cardiomyopathy

Question 13

Klinefelter

Answer 13

ToF

MV prolapse

Question 14

Klippel-Feil sequence

Answer 14

VSD

Question 15

Marfan syndrome

Answer 15

Dilated aorta and aortic root
Aortic aneurysm
MV prolapse

Question 16

Meckel-Gruber Syndrome

Answer 16

ASD
VSD
PDA
CoA
PS

Question 17

Noonan Syndrome (>50%)

Answer 17

Dysplastic or thickened pulmonary valve
LFH (secondary to local anterior septal wall hypertrophy, less often diffuse hypertrophy)
ASD
VSD
PDA
Branch stenosis of pulmonary arteries

Question 18

Rubenstein-Taybi syndrome

Answer 18

PDA
VSD
ASD

Question 19

TAR syndrome (thrombocytopenia, absent radius)

Answer 19

TOF

ASD

Question 20

Trisomy 13 (Patau syndrome) (80-90%)

Answer 20

VSD or PDA

<50% with other cardiac anomalies

Question 21

Trisomy 18 (Edward Syndrome) (95-99%)

Answer 21

VSD
PDA
PS
CoA
TOF
Polyvalvular disease

Question 22

Trisomy 21 (40-50%

Answer 22

Complete AVC > VSD > PDA
ASD
TOF

Question 23

Turner syndrome (45 XO) (35%)

Answer 23

Bicuspid aortic valve
CoA
Aortic stenosis
MV prolapse
Aortic dissection
Hypertension later in life

Question 24

VACTERL association (50%)

Answer 24

VSD > TOF

CoA

Question 25

Williams syndrome (50-70%)

Answer 25

Supravalvular subaortic stenosis > PPAS

PS

Question 26

Coxsackie B virus

Answer 26

Myocarditis

Question 27

Parvovirus B19

Answer 27

Myocarditis

Question 28

Rubella

Answer 28

PDA
PPS
PS
AS
ToF
Myocarditis

Question 29

Aspirin

Answer 29

Pulmonary hypertension

Question 30

Ethanol

Answer 30

VSD
ASD
ToF
CoA

Question 31

Indomethacin

Answer 31

Premature closure of PDA

Question 32

Lithium

Answer 32

Ebstein’s anomaly

Question 33

Retinoic acid

Answer 33

TGA
ToF
DORV
Truncus arteriosus
Artic arch abnormalities
HLHS

Question 34

SSRI’s

Answer 34

Pulmonary hypertension

Question 35

Thalidomide

Answer 35

Conotruncal malformations

Question 36

Trimethadione

Answer 36

VSD
ASD
TGA
ToF
HLHS
TA

Question 37

Valproic acid

Answer 37

ASD
VSD
AS
PA/IVS
CoA
ToF

Question 38

Warfarin

Answer 38

PDA

PPS

Question 39

SLE

Answer 39

Congenital heart block (1-2%), recurrence risk 16-40%
Risk for heart block independent of severity of maternal disease
30-60% of mothers with infant who has complete heart block will have SLE

Question 40

Diabetes mellitus

Answer 40

D-TGA, VSD, CoA, ventricular hypertrophy (especially if poor glucose control in 3rd trimester)
Risk greater if insulin-dependent prior to pregnancy
Risk lower if normal HbA1C level