Congenital Heart Disease

Question 1

Trisomy 21

Answer 1

Endocardial cushion defect (AVSD)VSDASDTetralogy of Fallot50% prevalence

Question 2

Turner’s Syndrome

Answer 2

Coarctation of AortaBicuspid Aortic ValveAortic Stenosis25-30% prevalence

Question 3

Trisomy 18 and 13

Answer 3

ASDVSDPDAAVSD** shunt lesions!80% prevalence

Question 4

Alagille Syndrome

Answer 4

JAG1, NOTCH1Peripheral Pulmonary StenosisTetralogy of FallotASD/VSDCoarctation of Aorta90% prevalence

Question 5

Holt-Oram

Answer 5

TBX5ASDVSDPartial Anomalous Pulmonary VeinsHeart Block

Question 6

Noonan

Answer 6

PTPN11, KRAS, SOS1Pulmonary StenosisASDHypertrophic Cardiomyopathy

Question 7

DiGeorge, Velocardiofacial Syndrome

Answer 7

22q11.2 DeletionTetralogy of FallotInterrupted Aortic ArchTruncus ArteriosusVSDArch Anomalies75-80% prevalence

Question 8

Williams Beuren

Answer 8

7q11 DeletionSupravalvular aortic & pulmonary stenosisBranch Pulmonary Artery Stenosis55-80%