Abstract A rare case of adult PHACE syndrome with a distal aortic arch aneurysm was treated surgically. The patient had several anomalies including uneven cerebral blood flow, a small left common carotid artery and a narrowed transverse aorta. Under deep hypothermic circulatory arrest, aortic replacement with reconstruction of the left subclavian artery was performed uneventfully. Cystic degeneration of the tunica media was observed in the aneurysm wall. PHACE syndrome , Distal aortic arch aneurysm , Vascular anomaly , Circulatory arrest INTRODUCTION PHACE syndrome is a rare disorder characterized by facial haemangioma. Aortic anomalies constitute part of the PHACE syndrome; however, the surgery for aortic aneurysms associated with this condition has been described in only a few reports. We report a case of an adult female patient with PHACE syndrome and distal aortic arch aneurysm. CASE REPORT A 35-year-old woman was referred to hospital for thoracic aortic aneurysm. At the age of 1 year, she allegedly had a purplish-red-coloured haemangioma on her left forehead. It was not clearly noticeable on admission. She had experienced migraine since she was 7 years old. There was no particular family history. Computed tomography (CT) revealed a distal aortic arch aneurysm—43 mm in diameter. Three arch vessels arose from the aortic arch. There was a narrow aortic segment between the origin of the hypoplastic left common carotid artery and the aneurysm from which the left subclavian artery arose (Fig. 1A and B). Intracranial magnetic resonance imaging revealed aneurysmal change from the left internal carotid artery to the left middle cerebral artery (Fig. 1C). The angiography revealed that the blood flow for the left cerebral hemisphere was supplied by the anterior communicating artery. The head CT revealed a left arachnoid cyst. Figure 1: View largeDownload slide (A) Computed tomography angiography showing the distal arch aneurysm. (B) Sagittal view. (C) Magnetic resonance imaging showing the cerebrovascular aneurysm (delta). (D) Postoperative image. Figure 1: View largeDownload slide (A) Computed tomography angiography showing the distal arch aneurysm. (B) Sagittal view. (C) Magnetic resonance imaging showing the cerebrovascular aneurysm (delta). (D) Postoperative image. As we believe that the abrupt rupture of the saccular-shaped aneurysm may occur, surgery with a left thoracotomy was performed. Cardiopulmonary bypass was established with the arterial perfusion cannula placed in the proximal aortic arch through the narrowed segment. The venous drainage was both from the cannula in the main pulmonary artery and from the right atrial catheter inserted through the left femoral vein. Using a 2-branched prosthetic graft (J Graft, Japan Lifeline Co., Tokyo, Japan), replacement of the aneurysm, including the proximal narrowed segment, was performed. Just distal to the origin of the left common carotid artery, the proximal aortic anastomosis was made during 26 min of deep hypothermic circulatory arrest. The proximal aortic perfusion was restarted through the branch grafts. Then, the left subclavian artery was reattached to another branch graft. Rewarming was initiated after reinstitution of the blood flow through the left subclavian artery. The distal aortic anastomosis was accomplished during the rewarming period. The postoperative course was uneventful (Fig. 1D). Pathological findings were examined using Elastica van Gieson stain. In the healthy portion of the aorta, elastic fibres were running methodically (Fig. 2A). Meanwhile, fracture of elastic fibres and cystic degeneration of the tunica media were observed in the aneurysmal wall (Fig. 2B). Figure 2: View largeDownload slide (A) The healthy portion of the aorta. The elastic fibres are stained black. (B) Cystic degeneration in the aneurysmal wall (circle). Figure 2: View largeDownload slide (A) The healthy portion of the aorta. The elastic fibres are stained black. (B) Cystic degeneration in the aneurysmal wall (circle). DISCUSSION PHACE syndrome was first reported in 1996 and stands for the acronym of a set of characteristic disorders. PHACE indicates posterior fossa malformations, haemangioma, arterial anomalies, coarctation of the aorta or cardiac defects and eye abnormalities . The diagnostic criteria for PHACE syndrome were published in 2009 . In our case, the aortic aneurysm, coarctation, left common carotid artery hypoplasty, cerebrovascular aneurysm and left arachnoid cyst were included as the major criteria. The aetiology is almost unclear. As the syndrome shows female prevalence, it has been considered to be associated with a mutation in an X-linked gene . Genomic copy number variations have also been reported to occur in some chromosome . The patient had a haemangioma on her left forehead; this has been reported to be associated with a higher risk for cerebrovascular anomalies . The operation was performed without any complication due to crossing of flow from the right hemisphere to the left hemisphere. Therefore, we believe our procedure was appropriate. There have been no reports describing the pathology of PHACE syndrome. In this case, the aortic pathology cannot be considered as specific for the condition. PHACE syndrome is not a well-known disorder; it should be considered when we are presented with a young woman with a history of facial haemangioma. CONCLUSION Aortic arch aneurysms in patients with PHACE syndrome could be complicated with various vascular anomalies, including abnormalities in intracranial vessels. Surgical treatment should be planned after meticulous examinations. Conflict of interest: none declared. REFERENCES 1 Frieden IJ , Reese V , Cohen D ; PHACE Syndrome . The association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities . Arch Dermatol 1996 ; 132 : 307 – 11 . Google Scholar CrossRef Search ADS PubMed 2 Metry D , Heyer G , Hess C , Garzon M , Haggstrom A , Frommelt P et al. Consensus statement on diagnostic criteria for PHACE syndrome . Pediatrics 2009 ; 124 : 1447 – 56 . Google Scholar CrossRef Search ADS PubMed 3 Sullivan CT , Christian SL , Shieh JT , Metry D , Blei F , Krol A et al. X Chromosome-inactivation patterns in 31 individuals with PHACE syndrome . Mol Syndromol 2013 ; 4 : 114 – 18 . Google Scholar PubMed 4 Siegel DH , Shieh JTC , Kwon EK , Baselga E , Blei F , Cordisco M et al. Copy number variation analysis in 98 individuals with PHACE syndrome . J Invest Dermatol 2013 ; 133 : 677 – 84 . Google Scholar CrossRef Search ADS PubMed 5 Haggstrom AN , Garzon MC , Baselga E , Chamlin SL , Frieden IJ , Holland K et al. Risk for PHACE syndrome in infants with large facial hemangiomas . Pediatrics 2010 ; 126 : e418 – 26 . Google Scholar CrossRef Search ADS PubMed © The Author(s) 2018. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved. This article is published and distributed under the terms of the Oxford University Press, Standard Journals Publication Model (https://academic.oup.com/journals/pages/about_us/legal/notices)
Interactive CardioVascular and Thoracic Surgery – Oxford University Press
Published: Apr 16, 2018
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