Interactive Cardiovascular and Thoracic Surgery 3:346-348(2004)
© 2004 European Association of Cardio-Thoracic Surgery
Case report - Vascular thoracic |
Surgical resection of sequential thoracic aortic aneurysms in Wiskott–Aldrich syndrome
Pradeep Narayan,
Hazaim Alwair and
Alan J. Bryan*
Department of Cardio-thoracic Surgery, Bristol Royal Infirmary, Bristol Heart Institute, Bristol BS2 8HW, UK
* Corresponding author. Tel.: +44-11-79-28-5151; fax: +44-11-79-28-51-92
alan.bryan{at}ubht.swest.nhs.uk
Received October 23, 2003;
received in revised form January 25, 2004;
accepted February 2, 2004
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Abstract
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Wiskott–Aldrich syndrome is a rare X-linked disorder. Vasculitis and aneurysm formation are extremely rare but potentially fatal complications of the disease. Aortitis and aneurysm formation seem to be progressive in patients with Wiskott–Aldrich syndrome. The risk of death from aneurysmal rupture in patients with Wiskott–Aldrich syndrome is high and hence surgery is required for resection of aneurysms. We report a case where a successful resection of a descending thoracic aneurysm was carried out in a patient who previously had undergone a composite root replacement for aortic root dilatation.
Key Words: Wiskott–Aldrich syndrome; Aortic surgery; Surgical resection
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1. Introduction
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Wiskott–Aldrich syndrome is a rare X-linked disorder characterized by eczema, thrombocytopenia and immunodeficiency. Early death is common as a result of infection, bleeding and malignancy [1]. Occasional cases of vasculitis and aneurysm formation have been reported in Wiskott–Aldrich syndrome, but the association has not been well established [2]. We report a case of Wiskott–Aldrich syndrome where the patient had progressive aortic dilatation and aneurysm formation and underwent two successful operations involving replacement of the aortic root and ascending aorta followed by replacement of distal aortic arch and descending aorta. The patient remains well and continues to be under regular surveillance.
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2. Case report
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A 24-year-old man with Wiskott–Aldrich syndrome was followed up in our institution since the age of 6 years. Bone marrow transplantation was considered but could not be carried out, as no matching sibling donor was available. At the age of 21, he was investigated for shortness of breath and a diagnosis of severe aortic regurgitation was established on echocardiography. MRI revealed significant dilatation of the aortic root and ascending aorta. The diameter at the sinus of valsalva measured 3.7 cm which increased to 5.2 cm at the mid ascending aorta.
At operation the aortic valve was found to be bicuspid and both the aortic root and the ascending aorta were aneurysmal and heavily calcified. An open distal anastomosis was performed under circulatory arrest (14 min) and a composite root replacement using a 27 mm Carbomedics prosthesis was successfully carried out. He made an uneventful recovery and was entered into our aortic surveillance programme. On subsequent follow up over the next 3 years a gradual but significant increase in size of the aortic arch and descending aorta was noted. The mid descending aorta at this stage measured 6.4 cm with a fusiform shape tapering down to the level of the diaphragm where it measured 2 cm (Fig. 1). Owing to the rapid progression of the disease it was decided to undertake replacement of the distal arch and descending aorta as the risk of rupture was felt to be high.
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Fig. 1 MRI scan showing gross fusiform dilatation of the aortic arch and descending aorta tapering down to normal size by the level of the diaphragm.
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A left posterolateral thoracotomy was carried out via the fourth rib space to achieve adequate exposure to the lower end of the aneurysm, which was found to be extending from the distal aortic arch down to the level of the seventh thoracic vertebrae and was adherent to the surrounding structures. Cardiopulmonary bypass was established with cannulation of the common femoral artery and the common femoral vein. The left atrium was vented through the left inferior pulmonary vein. The patient was then cooled to 18 °C, and the circulation was stopped. No clamps were used because of the severe calcification of the whole aortic arch and descending aorta.
The luminal surface of the aorta was found to be covered by ulcerated, necrotic plaques of calcified material. The aorta was transected proximally just beyond the left subclavian artery and the proximal end of a 34 mm GelsealTM (Sulzer Vascutek) graft was anastomosed to it under circulatory arrest. Perfusion was re-commenced to the upper body by connecting the arterial cannula to the sidearm of the Ante-Flo graft. Finally the aorta was transected 2 cm below the lower end of the aneurysm onto normal aorta and the distal anastomosis was completed.
Pre-operative immunological management included laparoscopic splenectomy in order to improve the persistent thrombocytopenia. Owing to splenectomy and concomitant use of azathioprine for vasculitis he was started on prophylactic long-term co-trimoxazole and intravenous immunoglobulins. During the intra- and post-operative periods only irradiated blood and blood products were used along with additional prophylactic broad spectrum antibiotics and a close vigil was kept for any signs of infection. Warfarin anticoagulation, which was stopped 5 days prior to the operation, was recommenced on the first post-operative day.
Histological study revealed a destructive, full thickness, chronic aortitis with a patchy inflammatory infiltrate consisting of lymphocytes, plasma cells and eosinophils.
The patient was discharged on day 9 and remains well 1 year post-operatively. He will follow a programme of long-term surveillance of the residual aorta.
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3. Discussion
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Most patients with Wiskott–Aldrich syndrome die early. The prognosis has been poor in the past with a median survival age of 6.5 years for patients born after 1964 [3]. However, with splenectomy and/or bone marrow transplantation the median survival of the patients have been reported to be as high as 25 years [4]. As affected individuals are surviving longer they appear to be at a higher risk of lympho-proliferative diseases and vasculitis [2]. Vasculitis and aneurysm formation are extremely rare but life threatening complications in Wiskott–Aldrich syndrome. Even though the incidence is rare, cases affecting medium and small sized vessels of heart, liver, kidneys, gall bladder, stomach, coronary arteries and cerebral blood vessels have all been reported in the past [5–8]. Involvement of aorta is even more rarely reported. Surgical management of thoracic aortic aneurysms, especially of the descending aorta is an even more challenging prospect in the presence of Wiskott–Aldrich syndrome because of diseased and calcified tissues and increased risk of bleeding and infection. The other fact to be borne in mind is that the aortitis and aneurysm formation seems to be progressive in patients with Wiskott–Aldrich syndrome as evidenced by this particular case and another similar case reported in the past [9]. The progressive and destructive nature of the disease may lead to sequential aneurysm formation. Nevertheless, it is possible to safely perform aneurysm resection if appropriate precautions like use of irradiated blood products and, vigilance with respect to post-operative infection and use of appropriate antibiotics are taken along with close liaison with the immunologists. Endovascular stent graft has emerged as a less invasive and safe alternative for type B dissection and aneurysms of the descending thoracic aorta. [10]. However, this was not utilized in our patient owing to the involvement of the distal arch and for fear of occlusion of the L subclavian artery. The risk of death from aneurysmal rupture in patients with Wiskott–Aldrich syndrome is increased due to thrombocytopenia and impaired platelet function [2] and it is also possible that aneurysm formation and vasculitis are a more common occurrence in these patients than reported. Thus patients with Wiskott–Aldrich syndrome in presence of evidence of vasculitis should be investigated for possible aneurysmal dilatation [2] and the progressive nature of the disease demands long-term surveillance for aneurysm formation in the residual native aorta.
doi:10.1016/j.icvts.2004.02.001
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References
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Abstract
1. Introduction