FE Congenital Heart Disease Recognition 3 — Questions and Answers
Question 1: The 'boot-shaped heart' appearance on imaging is classically associated with which congenital defect?
- Hypoplastic left heart syndrome
- Tetralogy of Fallot (Correct answer)
- Ebstein anomaly
- Tricuspid atresia
Correct answer: Tetralogy of Fallot
Tetralogy of Fallot can produce a boot-shaped cardiac silhouette due to right ventricular hypertrophy and a concave main pulmonary artery segment.
Question 2: In Ebstein anomaly, the echocardiographic hallmark is:
- Apical displacement of the septal and posterior leaflets of the tricuspid valve into the right ventricle (Correct answer)
- Anterior displacement of the mitral valve
- Dilated aortic root with tricuspid regurgitation
- Absence of the tricuspid valve
Correct answer: Apical displacement of the septal and posterior leaflets of the tricuspid valve into the right ventricle
Ebstein anomaly is defined by apical displacement of the septal and posterior tricuspid leaflets, leading to 'atrialization' of part of the right ventricle.
Question 3: Which congenital heart defect is most frequently associated with trisomy 21 (Down syndrome)?
- Tetralogy of Fallot
- Transposition of the great arteries
- Atrioventricular septal defect (AVSD) (Correct answer)
- Hypoplastic left heart syndrome
Correct answer: Atrioventricular septal defect (AVSD)
Complete atrioventricular septal defect is the most common cardiac defect in trisomy 21, occurring in approximately 40-50% of affected individuals.
Question 4: On the three-vessel trachea (3VT) view, a 'V-shape' formed by the ductal and aortic arches pointing toward the trachea is the normal appearance. An 'U-shape' suggests:
- Tetralogy of Fallot
- Right aortic arch with or without vascular ring (Correct answer)
- Coarctation of the aorta
- Pulmonary atresia
Correct answer: Right aortic arch with or without vascular ring
A U-shape on the 3VT view indicates a right-sided aortic arch, which may be associated with a vascular ring encircling the trachea and esophagus.
Question 5: Which feature differentiates a complete atrioventricular septal defect (AVSD) from a partial AVSD on fetal echocardiography?
- Presence of a primum ASD
- Presence of a common AV valve with inlet VSD component in complete AVSD (Correct answer)
- Left AV valve cleft only in complete AVSD
- Degree of AV valve regurgitation
Correct answer: Presence of a common AV valve with inlet VSD component in complete AVSD
Complete AVSD has a single common AV valve orifice bridging both ventricles plus an inlet VSD, whereas partial AVSD has two separate AV valve orifices without an inlet VSD.
Question 6: Color Doppler shows aliasing across a small defect in the muscular ventricular septum with left-to-right shunting. The most likely diagnosis is:
- Perimembranous VSD
- Muscular VSD (Correct answer)
- Atrioventricular septal defect
- Subarterial VSD
Correct answer: Muscular VSD
A high-velocity color Doppler jet through the muscular portion of the ventricular septum is diagnostic of a muscular VSD.
Question 7: Which finding on fetal echocardiography is characteristic of pulmonary atresia with intact ventricular septum (PA-IVS)?
- Large VSD with overriding pulmonary artery
- Diminutive right ventricle with atretic pulmonary valve and no VSD (Correct answer)
- Absent pulmonary arteries with systemic-to-pulmonary collaterals only
- Dilated right ventricle with tricuspid regurgitation
Correct answer: Diminutive right ventricle with atretic pulmonary valve and no VSD
PA-IVS presents with an atretic pulmonary valve, intact ventricular septum, and typically a small, hypertrophied right ventricle.
FE Congenital Heart Disease Recognition 3
The 'boot-shaped heart' appearance on imaging is classically associated with which congenital defect?