318 Williams’ syndrome: an unusual cause of neonatal coarctation

Abstract

To determine the frequency, clinical profile and outcome of patients with Williams syndrome and neonatal coarctation. Among 135 reviewed patients less than 3months of age who underwent aortic coarctation repair in our institution between January 1996 and June 2007, Williams syndrome was found in 3 cases (2,2%). They presented with congestive heart failure and absent femoral pulses, the diagnostic being confirmed by echocardiography. One case had an associated small ventricular septal defect. The 3 patients were operated at a mean age and weight of 51.6±32.7days and 3.5±0.6kg, respectively. All had resection of the coarctation segment with end-to-end anastomosis, through left thoracotomy in 2 cases, and sternotomy under cardiopulmonary bypass with large patch enlargement of the aortic arch and ventricular septal defect closure in one. The diagnosis of Williams syndrome was confirmed postoperatively by FISH analysis. All patients remained hypertensive and presented with recoarctation 2, 2.3, and 14.3months after initial repair. Transcatheter balloon dilation was attempted with failure to proceed in one and partial success in 2 cases. All had redo surgery at 0.6, 1.2 and 10.9 years after initial repair with patch enlargement of the aorta in two cases and an extra-anatomic bypass in the third, with good results and discontinuation of antihypertensive treatment. Williams syndrome may present as neonatal coarctation and is characterized by more complex repair and recurrent aortic obstruction. Balloon dilation seems disappointing to treat successfully these recoarctations. Reoperations are often necessary with patch enlargement and/or exclusion of the stenotic aortic segment.