Syndromes & Cardiac Defects

Question 1

What cardiac defects are associated with T21?

Answer 1

Endocardial cushion defects - AVSD, ASD, VSD, ToF

Question 2

What cardiac defects are associated with Turner’s (XO)?

Answer 2

Coarctation, bicuspid aortic valve, aortic stenosis, HLHS

Question 3

What cardiac defects are associated with DiGeorge (22q11 / velocardiofacial syndrome)?

Answer 3

Truncus arteriosus, aortic arch abnormalities, ToF

Question 4

What cardiac defects are associated with William’s (7q11.23)?

Answer 4

Supravalvular aortic stenosis, peripheral pulmonary stenosis

Question 5

What cardiac defects are associated with Noonan’s (RAS opathies)

Answer 5

Pulmonary stenosis, hypertrophic cardiomyopathy, secundum ASD

Question 6

What cardiac defects are associated with Kabuki (KMT2D/KDM6A) syndrome?

Answer 6

Coarctation, aortic stenosis, mitral stenosis, ASD, HLHS

Question 7

What cardiac defects are associated with Alagille (JAG1/NOTCH2)?

Answer 7

Pulmonary stenosis, ToF

Question 8

What cardiac defects are associated with Marfan (FBN1)?

Answer 8

Aortic root dilatation, mitral regurg, ASD

Question 9

What cardiac defects are associated with Smith-Lemli-Opitz (DHCR7)?

Answer 9

AVSD, anomalous pulmonary venous return

Question 10

What cardiac defects are associated with Ellis-van Creveld (EVC/EVC2)?

Answer 10

Endocardial cushion defects (AVSD, ASD, VSD), anomalous pulmonary venous return

Question 11

What cardiac defects are associated with Holt-Oram / Hand-Heart syndrome (TBX5)?

Answer 11

ASD, VSD, conduction defects

Question 12

What cardiac defects are associated with Mucopolysaccharidoses?

Answer 12

Aortic and mitral valve disease, cardiomyopathy

Question 13

What cardiac defects are associated with Goldenhar syndrome (hemifacial microsomia)?

Answer 13

Conotruncal defects (ToF, PA, DORV, TGA, truncus), ASD, VSD

Question 14

What cardiac defects are associated with CHARGE?

Answer 14

ToF, VSD, AVSD, arch abnormalities

Question 15

What cardiac defects are associated with VACTERL?

Answer 15

VSD, ToF

Question 16

What cardiac defects are associated with Pierre-Robin?

Answer 16

VSD, PDA, ASD

Question 17

This child is likely to have what kind of cardiac abnormalities?

Answer 17

Endocardial cushion defects - AVSD, ASD, VSD, ToF

Question 18

This child is likely to have what cardiac abnormalities?

Answer 18

Turner’s = Coarctation, bicuspid aortic valve, aortic stenosis, HLHS

Question 19

This child is likely to have what cardiac abnormalities?

Answer 19

DiGeorge/22q11 = Truncus arteriosus, aortic arch abnormalities, ToF

Question 20

This child is likely to have what cardiac abnormalities?

Answer 20

Williams (7q11.23) = Supravalvular aortic stenosis, peripheral pulmonary stenosis

Question 21

This child is likely to have what cardiac abnormalities?

Answer 21

Noonan’s = Pulmonary stenosis, hypertrophic cardiomyopathy

Question 22

This child is likely to have what cardiac abnormalities?

Answer 22

Kabuki Syndrome = Coarctation, aortic stenosis, mitral stenosis, ASD, HLHS

Question 23

This child is likely to have what cardiac abnormalities?

Answer 23

Alagille = Pulmonary stenosis, ToF

Question 24

This child is likely to have what cardiac abnormalities?

Answer 24

Holt-Oram/Hand-Heart = ASD, VSD, conduction defects

Question 25

This child is likely to have what cardiac abnormalities?

Answer 25

Goldenhar = Conotruncal defects (ToF, PA, DORV, TGA, truncus), ASD, VSD

Question 26

This child is likely to have what cardiac abnormalities?

Answer 26

CHARGE = ToF, VSD, AVSD, arch abnormalities

Question 27

This child is likely to have what cardiac abnormalities?

Answer 27

VACTERL = VSD, ToF

Question 28

This child is likely to have what cardiac abnormalities?

Answer 28

Pierre-Robin = VSD, PDA, ASD