PHACE syndrome with severe aortic arch tortuosity: a case report

PHACE syndrome is a neurocutaneous syndrome characterized by posterior fossa malformations, haemangiomas (primarily on the face, scalp, and neck), arterial anomalies, cardiac abnormalities/coarctation of the aorta, and eye abnormalities. Cardiac abnormalities associated with PHACE syndrome typically present with coarctation of the aorta. Cases presenting with severe aortic arch tortuosity are rare.

The patient was delivered by caesarean section at 37 weeks and 0 days of gestation with a weight of 2546 g. She was diagnosed with a right aortic arch, aberrant left subclavian artery and left ductus arteriosus during the foetal period and was admitted to the neonatal intensive care unit for further evaluation. Echocardiography raised suspicion of aortic arch hypoplasia. A contrast-enhanced computed tomography showed severe aortic arch tortuosity. Cardiac catheterization performed at 3 months of age showed extremely elevated left ventricular pressure. An extra-anatomical bypass was performed at 4 months of age. A diagnosis of PHACE syndrome was made based on the combination of specific aortic arch anomalies, cerebral carotid artery anomalies, and haemangioma in the deep neck space.

In this case, severe aortic arch tortuosity detected immediately after birth resulted in stenosis. If this distinctive aortic morphology is present, PHACE syndrome should be considered in the differential diagnosis.