Ipsilateral hemangioma and aortic arch anomalies in posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta, and cardiac defects and eye abnormalities (PHACE) anomaly: report and review.
Posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta, and cardiac defects and eye abnormalities (PHACE) is a rare congenital anomaly with a broad spectrum of clinical manifestations with a striking female predominance. We describe an infant with PHACE anomaly and aortic coarctation who underwent cardiac catheterization to clearly define the complex anatomy of the aortic lesion before surgical repair. Review of the literature documents a highly significant association between ipsilateral hemangiomas and cerebrovascular and aortic arch anomalies. We conclude that cardiac catheterization is required to define the complex anatomy of aortic lesions and should be performed in all patients with PHACE and evident aortic involvement to plan appropriate and safe surgical repair.
Bronzetti
Gabriele
G
Pediatric Cardiology, University of Bologna, Policlinico S. Orsola-Malpighi, Bologna, Italy. gabronz@hotmail.com
Giardini
Alessandro
A
Patrizi
Annalisa
A
Prandstraller
Daniela
D
Donti
Andrea
A
Formigari
Roberto
R
Bonvicini
Marco
M
Picchio
Fernando Maria
FM
D000015:Abnormalities, Multiple; D001013:Aorta, Thoracic / Q000002:abnormalities*; D001017:Aortic Coarctation; D003388:Cranial Fossa, Posterior / Q000002:abnormalities*; D005124:Eye Abnormalities; D005260:Female; D006391:Hemangioma; D006801:Humans; D007223:Infant; D008297:Male; D013577:Syndrome