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.