Ann Thorac Surg 2008;86:632-634. doi:10.1016/j.athoracsur.2008.02.008
© 2008 The Society of Thoracic Surgeons
Case Reports
Isolated Giant Aortic Aneurysm in an Infant: Ehlers-Danlos Syndrome Type IV
Roland Hetzer, MD, PhDa,
Eva Maria B. Delmo Walter, MD, PhDa,*,
Rudolf Meyer, MD, PhDb,
Vladimir Alexi-Meskishvili, MD, PhDa
a Department of Cardiovascular and Thoracic Surgery, Berlin, Germany
b Department of Pathology, Deutsches Herzzentrum Berlin, Berlin, Germany
Accepted for publication February 4, 2008.
* Address correspondence to Dr Delmo Walter, Deutsches Herzzentrum Berlin, Augustenburger Platz 1, Berlin, 13353, Germany (Email: delmo-walter{at}dhzb.de).
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Abstract
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This report describes a successful surgical treatment of an isolated giant aneurysm of the ascending aorta and its arch in an 8-month-old infant.
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Introduction
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Congenital aneurysm of the aorta is rarely seen in infants and children [1, 2]. It is typically seen in connective tissue disease [2], such as Ehlers-Danlos syndrome, which is a rare genetic disease of connective tissue caused by abnormal collagen synthesis most commonly affecting the skin, joints, and blood vessels, [3] or it may be secondary to arterial wall abnormalities or aortic valve diseases [4]. The arterial type is characterized by multiple aneurysm formation, spontaneous rupture, and dissection.
A 6-month-old infant boy who was born to term after an uncomplicated pregnancy had frequent and recurring upper respiratory tract infections. A chest x-ray film showed mediastinal widening and haziness of the right upper lung fields. Echocardiography showed mild aortic valvular insufficiency, aortic bulb of normal dimension for age (17 mm), and dilatation of the ascending aorta and arch measuring 30 mm (normal diameter for age, 7.6 to 24 mm; mean diameter, 14.8 mm). The aortic isthmus and descending aorta measured 7 and 15 mm, respectively, both within normal values for this patient's age. Mediastinal magnetic resonance imaging revealed aneurysm of the ascending aorta extending to the aortic isthmus. Angiocardiography showed normal aortic valve and coronary arteries and marked dilatation of the ascending aorta and arch with minimal aortic valve insufficiency. The aorta seemed to be extremely dilated (30 mm) and elongated (Fig 1), findings that are atypical for neonatal Marfan's syndrome. Aortic arch branches (brachiocephalic artery, 10 mm; left carotid artery, 5 mm; left subclavian artery, 4 mm), the thoracic aorta (15 mm), and the main pulmonary artery (14 mm) and its branches were of normal dimensions (Fig 1A). Subsequent serial echocardiographies for 2 months showed progressive dilatation of the ascending aorta and arch from 32 mm to 37 mm without annular ectasia.
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Fig 1. (A) Preoperative cardiac catheterization revealed normal aortic valve and coronary arteries, marked dilatation of the ascending aorta (AA) and aortic arch, with the aortic arch branches and descending aorta (DA) of normal diameter (upper). The main pulmonary artery and its branches were of normal dimensions (lower). (B) An operative photograph of an extremely dilated and elongated ascending aorta. (C) Schematic representation showing the (left) intraoperative finding of a markedly dilated ascending aorta and (right) the operative technique of prosthetic replacement of the ascending aorta (proximal anastomosis, supracoronary level), and proximal aortic arch until the isthmus (distal anastomosis).
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The infant underwent replacement of the ascending aorta and proximal aortic arch under deep hypothermic (18°C) cardiopulmonary bypass with crystalloid cardioplegia, and a 17-minute circulatory arrest during the performance of proximal aortic aortic arch replacement. Intraoperatively, the ascending aorta was confirmed to be elongated and extremely dilated (Fig 1B), the aortic valve was tricuspid and structurally normal, and the sinuses and annulus were uninvolved. A 20-mm Dacron graft (DuPont, Wilmington, DE) was anastomosed proximally at the supracoronary level of the ascending aorta and anastomosed distally to the proximal aortic arch until the isthmus level (Fig 1C).
Histology showed medial degeneration of the aortic wall, fragmentation of elastic fibers, thickened intima with absence of collagen III in the myxomatoid areas, and deposition of acid mucopolysaccharides in the medial layer, consistent with Ehlers-Danlos syndrome type IV (Fig 2).
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Fig 2. Photomicrograph (Elastica van Gieson, x 100) showing the aortic wall with structural changes in the media (arrow) with loss of elastic fibers.
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The postoperative course of the patient was uneventful. He was discharged on postoperative day 7 and was given aspirin (30 mg daily for 6 months postoperatively). He continued to grow normally without any cardiorespiratory problems. Echocardiographic examinations on subsequent follow-up showed stable hemodynamics, excellent morphologic and functional relationships of the aortic valve, ascending aorta, and arch without dilatation of the prosthetic graft, as well as excellent left ventricular function.
However, a routine echocardiogram when the child was 3 years old showed an aneurysm of the aortic arch measuring 4.0 x 4.5 cm between the graft and the proximal descending aorta confirmed by angiocardiography (Fig 3A) without involvement of the aortic arch vessels. Hence, his aortic arch was completely replaced with an 18-mm Hemashield prosthetic graft (Boston Scientific Corp, Natick, MA), anastomosed proximally at the previously placed prosthetic graft at the distal ascending aorta, and distally after the take-off of the left subclavian artery at the level of the isthmus just before the proximal descending aorta (Fig 3B) under deep hypothermia (16°C) and circulatory arrest of 32 minutes with retrograde cerebral perfusion. The patient's postoperative course was uneventful. He was discharged home on postoperative day 19. At his latest follow-up, the child (now a healthy 7-year-old school boy) was found to have mild stenosis (pressure gradient, 15 mm Hg) that had developed at the anastomotic site between the replaced ascending aorta and arch. However, there is no indication yet for surgery.
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Fig 3. (A) Postoperative cardiac catheterization (26 months after first surgery) revealed severely dilated aortic arch (upper), with the aortic arch branches and descending aorta of normal diameter (lower). (B) Schematic representation showing the (left) aneurysmal dilatation of the aortic arch distal to the previous ascending aortic graft, and (right) the operative technique of prosthetic replacement of the previously replaced distal ascending aorta (proximal anastomosis) and replacement of the aortic arch until the isthmus region just before the proximal descending aorta (distal anastomosis).
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Comment
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Isolated aneurysm of the ascending aorta is extremely rare in children; we believe that only one case of isolated aneurysm of the aortic root has been reported [1, 2]. Most reported cases deal with aneurysms of the descending aorta, which can be congenital or as a result of infectious processes [5]. Arterial aneurysms in children with Ehlers-Danlos syndrome usually involve the aorta, in contrast with adults in whom multiple aortic and peripheral arterial aneurysms have been reported [3].
A combination of congenital aortic and pulmonary artery aneurysms, dilatation of other arteries, tortuosity of the aorta and its branches, other cardiac defects, and other noncardiovascular abnormalities have been reported in 7 of 8 cases of aneurysm of the ascending aorta in children without Marfan syndrome or aortic valve disease [4, 6–8]. The cause of such aneurysms is unclear because no microscopic examination of the aortic wall was performed. Clinically, if patients are isolated, they are asymptomatic. Rupture of such aneurysms, unlike in patients with Marfan's syndrome or other aortic wall anomalies, have not been reported [3, 7]. Ades and colleagues [7] studied four cases of aneurysm of the ascending aorta in infants and were unable to identify a common phenotype, but all had a combination of aneurysms of the aorta and aneurysm or dilatation of the pulmonary artery .In our patient, dilatation of the whole ascending aorta between its supracoronary portion and arch branches was observed without concomitant anomalies of the pulmonary or other arteries. The aortic valve had normally developed leaflets, a normal diameter without the annular ectasia typical of Marfan syndrome, and there were no other intracardiac or extracardiac anomalies, contrary to most reported cases [4, 6–8].
Ehlers-Danlos syndrome type IV was confirmed as the cause of the ascending aortic aneurysm in this patient. Deficiency of type III collagen in the arterial wall is associated with the highest prevalence of vascular complications, including multiple aneurysm formation and spontaneous rupture and dissection of the large and small arteries. Clinically, our patient did not show any of the other major manifestations of the syndrome, such as skin fragility and hyperextensibility or joint hypermobility.
The increasing size of aneurysm and therefore the high probability of aneurysmal rupture represented a clear indication for surgical repair in our patient. Aortic valve replacement and coronary reimplantation were not necessary because the aneurysm did not involve the aortic annulus. Replacement of the ascending aorta with an adult-size prosthetic graft, in contrast to aneurysmorrhaphy, provides good mid-term results without the risk of aneurysm recurrence [6]. Long-term results of ascending aorta replacement in children have not been reported yet.
In conclusion, this report demonstrates that aneurysm of the ascending aorta and aortic arch can be isolated and progressive in infants and may be successfully treated by their replacement with an adult-sized synthetic graft.
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Acknowledgments
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We thank Anne Gale, medical editor, for assistance with this article. We also appreciate the assistance of Astrid Benhennour, Helge Haselbach, and Thomas Farr.
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References
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- Cattaneo SM, Bethea BT, Alejo DE, et al. Surgery for aortic aneurysm in children: a 21-year experience in 20 patients Ann Thorac Surg 2004;77:168-176.[Abstract/Free Full Text]
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Abstract
Introduction
