Cardiology in the Young



Brief Report

PHACES: a neurocutaneous syndrome with anomalies of the aorta and supraaortic vessels


Gerald Wendelin a1, Erwin Kitzmüller a1 and Ulrike Salzer-Muhar a1c1
a1 Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine, General Hospital of Vienna, Vienna, Austria

Article author query
wendelin g   [PubMed][Google Scholar] 
kitzmuller e   [PubMed][Google Scholar] 
salzer-muhar u   [PubMed][Google Scholar] 

Abstract

The acronym PHACES summarizes the most important manifestations of a rare neurocutaneous syndrome. Specifically, “P” accounts for malformation of the brain in the region of the posterior fossa, “H” stands for haemangiomas, “A” is for arterial anomalies, and “C” is for coarctation of the aorta along with cardiac defects, “E” is for abnormalities of the eye, and “S” for clefting of the sternum, and/or a supraumbilical abdominal raphe. Our objective is to introduce the syndrome to paediatric cardiologists. Our patient has stenosis of the aortic arch, multiple malformations of the great vessels arising from the aortic arch, intracranial vascular abnormalities, a sternal malformation with a supraumbilical raphe, and facial haemangiomas. We stress that it is important always to consider the existence of this syndrome in all patients with facial haemangiomas.

(Accepted October 30 2003)


Key Words: PHACE; haemangiomas; arterial anomalies; aortic anomalies; cardiac defects.

Correspondence:
c1 Correspondence to: Univ. Prof. Dr. Ulrike Salzer-Muhar MD, Universitätsklinik für Kinder- und Jugendheilkunde, Klinische Abteilung für Pädiatrische Kardiologie, Währinger Gürtel 18–20, A-1090 Wien, Austria. Tel: ++43 (0)1 40400 3217; Fax: ++43 (0)1 40400 3417; E-mail: ulrike.salzer@akh-wien.ac.at