Complete atrioventricular septal defect with pulmonary stenosis (echocardiography)
Presentation
Known Down syndrome presents with difficulty in breathing and fevers.
Patient Data
Normal systemic and pulmonary venous return.
There is a primum atrial septal defect (ASD) with mainly left to right shunting. Large inlet ventricular septal defect (VSD) with bidirectional shunting. Loss of atrioventricular valve offsetting with absence of the atrioventricular muscular septum.
Single atrioventricular valve with two jets on the right atrioventricular valve component (right atrioventricular valve regurgitation) and on the left atrioventricular valve component (left atrioventricular valve regurgitation). Hypertrophied and balanced Ventricles.
There's infundibular pulmonary calcifications as seen on the main pulmonary artery view (marked with white arrows) causing pulmonary stenosis with pulmonic regurgitation. The gradient across RVOT measures 68mmHg. Main Pulmonary artery and its branches are normal in size.
The aorta is tri-leaflet with normal coronaries. Goose neck aorta. Good biventricular systolic function. No coarctation.
Conclusion; Complete Atrioventricular septal defect , Rastelli type A with moderate pulmonary stenosis
There is mild cardiomegaly.
The pulmonary vasculature is normal. No mediastinal or lung lesion is seen. The costophrenic angles are clear. The bony cage is normal.
Case Discussion
Atrioventricular septal defect (AVSD) also known as atrioventricular canal defect or endocardial cushion defect is highly associated with chromosomal abnormalities particularly Down syndrome.
The above patient had pulmonary calcifications causing moderate pulmonary stenosis hence reduced blow flow to the lungs.
Patient was taken to cardiac catheterization to determine lung pressures.