A Case of Antenatal Diagnosis of Absent Pulmonary Valve Syndrome with Intact Ventricular Septum, Large Patent Ductus Arteriosus, and Ascending Aorta Dilatation

Abstract

Absent pulmonary valve syndrome (APVS) is a rare congenital anomaly characterized by rudimentary PV tissue with variable degrees of PV stenosis and regurgitant pulmonary blood flow. In most cases, it is associated with tetralogy of Fallot. In a minority of APVS cases, with an unknown frequency, intact ventricular septum (IVS), patent ductus arteriosus, and possible tricuspid atresia are present. This condition is known as non-Fallot type APVS. We describe a case of an antenatal diagnosis of APVS with IVS, a large patent ductus arteriosus, and ascending aorta dilatation. The mother was referred to our center at 32 weeks of gestation due to cardiomegaly on sonography. Fetal echocardiography revealed cardiomegaly, right atrial and ventricular enlargement, aneurysmal dilatation of the main pulmonary artery, and mild dilatation of the pulmonary artery branches. Also observed were IVS, rudimentary PV tissue with severe to-and-fro turbulence across the PV, a widely open ductus arteriosus, ascending aorta dilatation, and levorotation of the heart. After childbirth, our diagnosis was confirmed by echocardiography and surgery. The baby experienced severe respiratory distress. At 15 days of life, surgical intervention in the form of pulmonary artery arterioplasty was performed, resulting in good outcomes. The patient underwent follow-up for 6 months and showed reasonable health.

Keywords: Antenatal diagnosis; Pulmonary valve incompetence; Pulmonary valve/abnormalities*.

Figure 1

A & B) Five-chamber views A) lateral 5-chamber and B) apical 5-chamber views, illustrating IVS, RVE, RVH, mild PE, dilatation of the AAO (diameter =1.1 cm), and levorotation of the heart IVS, Intact ventricular septum; RVE, Right ventricular enlargement; RVH, Right ventricular hypertrophy; PE, Pericardial effusion; AAO, Ascending aorta

Figure 2

Four-chamber view demonstrating RAE, RVE, RVH, mild PE, bowing of the IAS toward the LA, levorotation of the heart, and the length and width of LV and RV hypertrabeculation RAE, Right atrial enlargement; RVE, Right ventricular enlargement; RVH, Right ventricular hypertrophy; PE, Pericardial effusion; IAS, Interatrial septum; LA, Left atrium; RV, Right ventricle

Figure 3

(A & B) Three-vessel or tracheal views, showing dilatation of the MPA and the transverse aortic arch in 2D (A) & CFM (B) MPA=1.5 cm The asterisk points to the transverse aortic arch. MPA, Main pulmonary artery; AO, Transverse aortic arch; SVC, Superior vena cava; DA, Ductus arteriosus; CFM, Color flow mapping

Figure 4

A & B) Ductal arch 2D view, illustrating dilated RVOT, MPA, stenotic pulmonary valve, and diminutive PA leaflets (PA valve opening =3.91 mm and MPA=15.2 mm) RVOT, Right ventricular outflow tract; MPA, Main pulmonary artery; PA, Pulmonary artery; AO, Aorta; LA, Left atrium The white arrows are for better visualization.

Figure 5

A) Ductal arch view, demonstrating severe turbulent flow toward the RVOT due to PI by CFM B) CFM at the same view, showing severe turbulent flow toward the MPA owing to PS RVOT, Right ventricular outflow tract; PI, Pulmonary insufficiency; PS, Pulmonary stenosis; MPA, Main pulmonary artery; PA, Pulmonary artery; DA, Ductus arteriosus; RPA, Right pulmonary artery; CFM, Color flow mapping The white arrows are for better visualization.

Figure 6

Pulsed-wave Doppler, showing marked PS (upper Doppler flow) and PI (lower Doppler flow) during systole (PS) and diastole (PI), respectively PS, Pulmonary stenosis; PI, Pulmonary insufficiency

Figure 7

A) Ductal arch 2D view, showing a widely open DA and a large MPA, B) Aortic arch 2D view, demonstrating a dilated AAO (=1.17cm), C) CFM, demonstrating dilated AAO and DA (DA=6.28 mm), D) CFM, showing dilated AAO (1.2cm), AAO, Ascending aorta; DAO, Descending aorta; DA; Ductus arteriosus; MPA, Main pulmonary artery; CFM, Color flow mapping The white arrows are for better visualization.

Figure 8

Abnormal ductus venosus flow in the Doppler view, showing reverse A (atrial contraction) wave and an increased end-diastolic flow depth

Figure 8

Abnormal ductus venosus flow in the Doppler view, showing reverse A (atrial contraction) wave and an increased end-diastolic flow depth