Study finds poor outcomes when pulmonary atresia presents in Alagille Syndrome

An Australian study published almost a year after Sasha died reviewed 5 cases of Alagille Syndrome and pulmonary atresia, Sasha's combination of defects, over two decades. The study confirms that surgical intervention can extend the child's life but that most children will die in their second to fifth year. I believe we honor these children and help the families when professionals clarify that these children are palliative and also clarify that death can be sudden or lingering over many months.

Pulmonary atresia (PA) is a rare presentation in AGS, but we were impressed by the poor outcome of such infants following review of our institutional experience over the last 20 years.... Five cases of AGS with PA were identified (see Table 1): 4 with PA and ventricular septal defect (VSD), 1 with PA and intact ventricular septum. Four of 5 patients (80%) have died as a result of cardiac disease, and the remaining individual is receiving palliative care....It is not clear why the patients with AGS who received systemic-to-pulmonary shunts did not show evidence of pulmonary arterial growth. In the 3 who had generous collateral flow, initial palliation was deferred, but in the current era we would aim to augment pulmonary blood flow as soon as possible to achieve what pulmonary arterial growth is possible. Unfortunately, even when this approach was aggressively employed (case 1), satisfactory pulmonary vascular development has not been achieved.

The negative impact of Alagille syndrome on survival of infants with pulmonary atresia J Thorac Cardiovasc Surg. 2007 Apr

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