Case presentation:
24-years old male patient presented to our medical facility complaining of exertional dyspnea and easy fatigability for 4 years. On clinical examination, a loud systolic murmur is heard over the left parasternal area. 2D Transthoracic Echocardiography (2D TTE) revealed a large ostium primum atrial septal defect (ASD), a cleft in the left and right atrioventricular valves with mild regurgitation and a small restrictive inlet ventricular septal defect (VSD). Marked hypertrophy of the right ventricular free wall with increased systolic gradient across the right ventricular outflow tract (RVOT) to 50 mmHg. 3D Transesophageal echocardiography (TOE) with zoomed and full volume mode acquisition revealed a common AV valve with common annulus with clear visualization of the five leaflets. Moreover, the cleft in the left AV valve is directed towards the interventricular septum (IVS) with small coaptation gap seen at the central orifice. An oval-shaped large ostium primum ASD is seen from both the right and left atrial perspectives. Multiple small fenestrated VSDs are seen in the inlet septum. Associated infundibular hypertrophy is noted with normal pulmonary valve orifice (Arrow) (Figure 1, Video 1,2). So, we report a case of complete AVSD associated with infundibular stenosis. The patient was referred for surgical repair of the AV valve, closure of the ASD and VSDs and reconstruction of the RVOT.
Although being one of the common defects encountered by pediatric cardiologists and echocardiographers, imaging of the AVSD associated defects remains challenging.(1) Residual cleft and valve dysplasia are one of the common causes for further operations.(2,3) With the help of 3D echocardiography , fine anatomical details of the AV valve(s) and associated defects of AVSDs can be clarified .(4) Accordingly, 3D echocardiography is highly recommended to provide a clear picture to the surgeon to avoid future reinterventions.