A congenital left ventricular diverticulum combined with a complex malformation syndrome

Congenital left ventricular diverticulum is rare and usually isolated or associated with midline thoracoabdominal defects and other congenital cardiac malformations. We describe a case with a previously undescribed malformation syndrome including bilateral obstruction of the ureteropelvic junction, agenesis of corpus callosus, scoliosis, hip dysplasia, severe developmental delay, failure to thrive and congenital left ventricular diverticulum but with normal GTG-banded karyotype. The cardiac lesion was suspected on echocardiography and was confirmed by cineangiography, which outlined a huge apical diverticulum opening through a wide ostium into the left ventricular cavity. To our knowledge this case report is the first description of an association with such a malformation syndrome.