Congenital Heart Disease Recognition Flashcards

Which genetic syndrome is most associated with supravalvular aortic stenosis and peripheral pulmonary artery stenosis on fetal echocardiography?

Answer: Williams syndrome

Williams syndrome (7q11 deletion) is classically associated with supravalvular aortic stenosis and peripheral pulmonary arterial stenosis.

On fetal echocardiography, which feature best distinguishes a perimembranous VSD from a muscular VSD?

Answer: Location adjacent to the aortic valve in the membranous septum

A perimembranous VSD is located in the membranous septum immediately beneath the aortic valve, distinguishing it from defects in the muscular trabecular septum.

A fetus with 22q11.2 deletion (DiGeorge syndrome) would most likely show which cardiac defect on echocardiography?

Answer: Conotruncal anomalies such as truncus arteriosus or interrupted aortic arch

22q11.2 deletion is strongly associated with conotruncal defects including truncus arteriosus, tetralogy of Fallot, and interrupted aortic arch type B.

The ductal arch and aortic arch are distinguished on fetal echocardiography primarily by:

Answer: The aortic arch giving off head and neck vessels forming a 'candy cane' shape, while the ductal arch is more gently curved

The aortic arch has a characteristic candy-cane shape with head and neck vessel branches, whereas the ductal arch has a more hockey-stick shape with no branching vessels.

Which of the following is a key echocardiographic feature of tricuspid atresia?

Answer: Absent tricuspid valve echo with no right ventricular inlet

Tricuspid atresia presents as an absent tricuspid valve with no identifiable right ventricular inlet, often with a small, rudimentary right ventricle.

On fetal echocardiography, the aortic isthmus is best evaluated to detect coarctation using which approach?

Answer: High left parasagittal or ductal arch view showing the aortic isthmus between the left subclavian artery and ductus arteriosus

The aortic isthmus, the site of coarctation, is best visualized in a left parasagittal view showing the segment between the left subclavian artery and the ductal insertion.

Which echocardiographic finding is most suggestive of critical aortic stenosis in the fetus at risk for evolving HLHS?

Answer: Dilated, poorly contractile left ventricle with monophasic mitral inflow and retrograde flow in the aortic arch

Evolving critical aortic stenosis leading toward HLHS shows a dilated dysfunctional LV, monophasic mitral inflow, and retrograde flow in the transverse aortic arch indicating dependence on the ductus.