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DOI: 10.1542/peds.113.2.4122004;113;412-415Pediatrics

Andrea Donti, Roberto Formigari, Marco Bonvicini and Fernando Maria PicchioGabriele Bronzetti, Alessandro Giardini, Annalisa Patrizi, Daniela Prandstraller,

Reviewand Cardiac Defects and Eye Abnormalities (PHACE) Anomaly: Report andMalformations, Hemangiomas, Arterial Anomalies, Coarctation of the Aorta,

Ipsilateral Hemangioma and Aortic Arch Anomalies in Posterior Fossa

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Ipsilateral Hemangioma and Aortic Arch Anomalies in Posterior FossaMalformations, Hemangiomas, Arterial Anomalies, Coarctation of the

Aorta, and Cardiac Defects and Eye Abnormalities (PHACE) Anomaly:Report and Review

Gabriele Bronzetti, MD*; Alessandro Giardini, MD*; Annalisa Patrizi, MD; Daniela Prandstraller, MD*;Andrea Donti, MD*; Roberto Formigari, MD*; Marco Bonvicini, MD*; and Fernando Maria Picchio, MD*

ABSTRACT. Posterior fossa malformations, hemangio-mas, arterial anomalies, coarctation of the aorta, and car-diac defects and eye abnormalities (PHACE) is a rarecongenital anomaly with a broad spectrum of clinicalmanifestations with a striking female predominance. Wedescribe an infant with PHACE anomaly and aortic co-arctation who underwent cardiac catheterization toclearly define the complex anatomy of the aortic lesionbefore surgical repair. Review of the literature docu-ments a highly significant association between ipsilat-eral hemangiomas and cerebrovascular and aortic archanomalies. We conclude that cardiac catheterization isrequired to define the complex anatomy of aortic lesionsand should be performed in all patients with PHACE andevident aortic involvement to plan appropriate and safesurgical repair.Pediatrics 2004;113:412415;PHACE, aor-tic arch, hemangioma, aortic coarctation, cardiac cathe-terization.

ABBREVIATION. PHACE, posterior fossa malformations, heman-giomas, arterial anomalies, coarctation of the aorta, and cardiacdefects and eye abnormalities.

Infantile hemangiomas are common vascular le-sions, occurring in 8% of all newborns, and areusually solitary (90%). However, segmental hem-

angiomas, which may occur in unusual locations indeep tissue, occur in several syndromes.1 Posteriorfossa malformations, hemangiomas, arterial anoma-lies, coarctation of the aorta, and cardiac defects andeye abnormalities (PHACE) is an uncommon con-genital neurocutaneous syndrome with a striking fe-male predominance. Approximately 70% of affectedinfants have no more than 1 of the extracutaneousmanifestations.2,3 Hemangiomas and cardiovascular

malformations are seen also in supraumbilical mid-line raphe and midline defects.47 Several case re-ports exist of PHACE-associated cardiovascularanomalies, most often aortic coarctation or interrup-tion.129 We describe a further case with PHACEsyndrome with complex coarctation. A review of the

reported cases of PHACE shows a highly significantprevalence of ipsilateral hemangiomas and aorticarch anomalies.

CASE REPORTS

A 2-month-old girl with an extensive, left facial hemangiomaextending to the cheek, lips, and eye (Fig 1 a) was referred forsuspected aortic coarctation. Echocardiography showed normal

intracardiac anatomy with a persistent left superior vena cavadraining into the coronary sinus. A suprasternal scan documenteda complex aortic anomaly with severe narrowing of the posterioraspect of the aortic arch and absent antegrade flow at the level ofthe aortic isthmus. A color Doppler scan showed multiple collat-eral vessels running close to the aorta and evidence of periaorticextension of the hemangioma. Magnetic resonance imaging ex-cluded gross intracranial anomalies but confirmed the extensionof the hemangioma to the left orbit and the mediastinum withsevere aortic coarctation (Fig 1 b). Cardiac catheterization demon-strated type A interruption of the left-sided aortic arch distal to thetake-off of the left carotid artery followed by a tortuous andnarrow (3-mm) tract of descending aorta, receiving its sole supplyfrom the left vertebral artery (Fig 1 c). The same examinationshowed a distal take-off of the left subclavian artery with cranial-caudal flow toward the normal diaphragmatic aorta. The patientunderwent successful repair with interposition of a patch of cryo-preserved pericardium between the aortic arch and the diaphrag-matic aorta, using the interrupted tract as the roof of the recon-structed aorta.

A 40-day-old boy with a left-sided hemangioma extended tothe face and neck was referred to us a few months later. In thispatient, aortic angiography showed a looped left aortic arch withsignificant segmental narrowing of the descending thoracic aortaand with a stenotic and distally displaced origin of the left sub-clavian artery (Fig 1, d and e).

DISCUSSION

A review documents that the clinical sequencedescribed above is actually rather typical of othercases (n 32) with cardiovascular involvement230

traced by us in the MEDLINE database (usingPHACE, aorta, aortic coarctation, hemangioma, andhemangioma as abstract search terms; Table 1). In13 cases there was a right aortic arch with coarcta-tion or interruption, which is generally a rare find-ing.35,913,15,20,27 We considered the possibility that,as already suggested for epi-aortic vessel anomaliesin patients with PHACE anomaly,3,22 an ipsilateralrelationship might exist between the location of thehemangioma and the side of the aortic arch.

Excluding the 4 cases with undescribed hemangi-oma location, we noticed that all reported cases (11of 11) of right aortic arch also had a right hemangi-oma. Furthermore, a similar ipsilateral association

From *Pediatric Cardiology and Institute of Dermatology, University of

Bologna, Bologna, Italy.

Received for publication May 29, 2003; accepted Oct 29, 2003.

Reprint requests to (G.B.) Pediatric Cardiology and Adult Congenital Unit,

University of Bologna, Policlinico S. Orsola-Malpighi, Via Massarenti 9,

40138 Bologna, Italy. E-mail: [email protected]

PEDIATRICS (ISSN 0031 4005). Copyright 2004 by the American Acad-

emy of Pediatrics.

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interruption and blood supply to the descendingthoracic aorta). On clinical grounds, these observa-tions imply that routine transthoracic echocardiogra-phy33 cannot provide a complete preoperative func-tional and anatomic definition in patients withPHACE. We think that cardiac catheterization and

angiography and/or magnetic resonance should bemandatory to plan safe, complete surgical repair ofthe aortic defect.

ACKNOWLEDGMENTS

We acknowledge Mr Robin M.T. Cooke for scientific editingand Ms Claudia Cavicchi for valuable help.

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TABLE 1. Presentation Characteristics of the 33 Reported Cases of PHACE Syndrome

Authors IntracardiacDefect

Aortic Arch Anomaly Side of Hemangioma

Crisponi et al5 ASD RAA, AC RKishnani et al4 RAA, AC, ALSA RHoney et al9 Infracristal VSD RAA, AC, ALSA RVaillant et al10 RAA, AC, ALSA RGeller et al11 TA, PS RAA RReese et al12 RAA, AC, ALSA RBurrows et al13 ToF, PLSVC RAA, ALSA, LCAo, occluded R

RICAWong et al3 DAA (right dom), IAA B, ALSA R

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Goh et al14 LAA, IAA A, ARSA R LAA, AC, ARSA L

Raas-Rothschild et al6 ASD, VSD LAA, AA Both sidesSawaya and McLaurin24 ASD LAA, PDA LBruyere et al23 ASD LAA, PDA LCoats et al28 ASD LAA LFrieden et al2 LAA, aortic dilation, no LCA Both sidesHijii et al16 LAA, AC LQuecedo et al17 LAA, AC L

Hirsch et al18 Dextrocardia LAA, PDA LMolland and Purcell20 AC, LSA Buzenet et al21 LAA, AC, stenosis of brachiocephalic

trunk and LCAL

Pasic et al25 PLSVC LAA, AA, anomalous coronary arteries LSchieken et al26 LAA, AA, absent right innominate artery Both sidesMetry et al7 VSD LAA

VSD LAA, AC L LAA, AC, ARSA L

Pascual-Castroviejo et al22 LAA, AC, PDA LTA LAA, AC, ALCA L LAA, AC, ALCA L

Matsui et al30 LAA, ALSA LZeevi and Berant28 LAA, CAA, AA LGargiulo et al8 PLSVC LAA, AC, ALSA LPresent report PLSVC LAA, IAA, A, ALSA L

AA indicates aortic aneurysm; AC, aortic coarctation; ALCA, absent left carotid artery; ALSA, anomalous left subclavian artery; Ao, aorta;ARSA, anomalous right subclavian artery; ASD, atrial septal defect; CAA, cervical aortic arch; DAA, double aortic arch; IAA, interruptedaortic arch; L, left; LAA, left aortic arch; LCA, left carotid artery; PDA, patent ductus arteriosus; PLSVC, persistent left superior vena cava;PS, pulmonary stenosis; R, right; RAA, right aortic arch; RICA, right internal carotid artery; RSA, right subclavian artery; TA, tricuspidatresia; ToF, tetralogy of Fallot; VSD, ventricular septal defect.

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14211425

AMERICAS SHAME

There are approximately two million people in jail in America today, 2 166 260at last count: more than four times as many people as thirty years ago. It is thelargest number in our history. More than 500 in every 100 000 Americans are

behind bars, between four and ten times the incarceration rate of any civilizedcountry in the world . . . But gross numbers are only part of the story. The otherpart is racial imbalance. Twelve percent of African-American men between twentyand thirty-four are currently behind bars (the highest figure ever recorded by the

Justice Department) compared with 1.6% of white men of comparable ages. Andaccording to the same source, 28% of black men will be sent to jail in theirlifetimes.

Bruner JS. Do not pass go. New York Review of Books. September 25, 2003

Submitted by Student

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DOI: 10.1542/peds.113.2.4122004;113;412-415PediatricsAndrea Donti, Roberto Formigari, Marco Bonvicini and Fernando Maria Picchio

Gabriele Bronzetti, Alessandro Giardini, Annalisa Patrizi, Daniela Prandstraller,Review

and Cardiac Defects and Eye Abnormalities (PHACE) Anomaly: Report andMalformations, Hemangiomas, Arterial Anomalies, Coarctation of the Aorta,

Ipsilateral Hemangioma and Aortic Arch Anomalies in Posterior Fossa

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