Remember me
Abstract
Williams-Beuren syndrome is a rare genetic malformation with predilection for supravalvular aortic stenosis. Apart from cardiovascular malformation, hypocalcemia, developmental delay, and elfin facies, challenging airway make perioperative management more eventful. Association of infective endocarditis within the aortic arch and pseudoaneurysm formation is infrequent. We, hereby report a case of pseudoaneurysm formation and infective vegetation within the aortic arch in a patient with Williams syndrome and the role of transthoracic echocardiography in its perioperative management.
Keywords: Echocardiography, infective endocarditis, modified broms procedure, pseudoaneurysm of aortic arch, supravalvular aortic stenosis, williams-beuren syndrome
How to cite this article: Introduction 
Williams-Beuren syndrome is a rare congenital disorder with an incidence of 1 in 8000-10,000 live birth.[1],[2] It is characterized by cardiovascular malformation, neurocognitive retardation, elfin facies, and infantile hypocalcemia. The most common cardiac involvement is supravalvular aortic stenosis occurring in 56% of patients.[3],[4],[5]
We report a rare association of supravalvular aortic stenosis with pseudoaneurysm formation and infective vegetation within the aortic arch in a patient with Williams syndrome.
Case History A 4-year-old boy presented with easy fatiguability, increased respiratory distress, along with an on and off fever for 2 months. The patient had delayed developmental milestones since childhood. On examination, the patient had a characteristic elfin facies and loud ejection systolic murmur in the left upper sternal border radiating to carotids. The complete hemogram revealed marked leukocytosis with predominant neutrophilia and blood culture-confirmed presence of gram-positive coagulase negative staphylococcus cohnii. The transthoracic echocardiography (TTE) confirmed supravalvular aortic stenosis with peak and mean gradient of 40 mm of Hg and 30 mm of Hg, respectively. The suprasternal aortic arch view on TTE revealed a left aortic arch with two vegetations in the aortic arch measuring 1.3 cm × 0.7 cm and 0.6 cm × 0.5 cm, respectively, and a pseudoaneurysm was found at the greater curvature of the arch involving the origin of the left common carotid artery [[Figure 1], Video 1]. On color Doppler interrogation, flow turbulence was illustrated [[Figure 2], Video 2]. There was left ventricular hypertrophy (left ventricular end-diastolic diameter 35 mm) with severe ventricular dysfunction (ejection fraction 35%). The computed tomographic (CT) angiography confirmed supravalvular aortic stenosis with maximum stenosis measuring 6.2 mm, irregular vegetation in the arch of the aorta, and 2.2 mm pseudoaneurysm along the greater curvature of the aortic arch with ostio-proximal stenosis of the right brachiocephalic artery and near total occlusion of the left common carotid artery. The patient was managed medically with intravenous antibiotics sensitive to the specific organism and diuretics. After 10 days, the patient was electively posted for modified Broms procedure with ascending aorta and arch replacement.
Figure 1: Two-dimensional transthoracic echocardiographic suprasternal window revealing vegetation (V) in the aortic arch, pseudoaneurysm (P) in the greater curvature between the innominate artery and left subclavian artery (LSCA) obstructing left common carotid artery (LCCA) with the unaffected descending thoracic aorta (DTA)
Figure 2: Two-dimensional transthoracic echocardiographic suprasternal window with color Doppler interrogation revealing flow turbulence in the aortic arch. V: vegetation; P: pseudoaneurysm; LSCA: left subclavian artery; LCCA: left common carotid artery; DTA: descending thoracic aortaIn preanesthetic advice intravenous antibiotics were continued as per scheduled, diuretics were stopped on the day of surgery, and kept nil per oral 6 hours before surgery. In the operating room, near-infrared spectroscopy and bispectral index monitors were attached in addition to the standard ASA monitors. The patient was induced and intubated with minimal hemodynamic alteration followed by central venous and arterial access in the left lower limb keeping the right limb free for the surgeon. After adequate heparinization cardiopulmonary bypass (CPB) was instituted, the patient was cooled to 20°C. Following a fibrillatory arrest, an aortic cross clamp (AoXCl) was applied and cardioplegia was administered. Injection thiopentone sodium and methyl prednisolone along with topical cerebral cooling was implemented for neuroprotection during deep hypothermic circulatory arrest (DHCA). The diseased ascending aorta with pseudoaneurysm of the aortic arch was resected. The sinus of Valsalva was augmented with an autologous pericardial patch by the modified Broms technique. The ascending aorta and the aortic arch were reconstructed with an untreated autologous pericardial patch. After a total of 85 minutes of intermittent DHCA, the patient was rewarmed. The AoXCl and CPB time was 135 minutes and 244 minutes, respectively. The patient was weaned from CPB with adrenaline and noradrenaline support. Heparin was reversed with protamine and an antifibrinolytic agent epsilon amino caproic acid was administered pre CPB, during, and after CPB to supplement hemostasis. Four units of packed red blood cells, one unit each for platelet concentrate, fresh frozen plasma, and cryoprecipitate were required to be transfused during operation. After surgery patient was shifted to the intensive care unit for mechanical ventilation, intense neurological as well as hemodynamic monitoring. Postoperative TTE revealed mild aortic regurgitation and patent neo-aorta with arch vessels [[Figure 3], Video 3]. The patient was extubated on the 2nd postoperative day, and inotropic support was gradually tapered off. The hospital course was uneventful, and the patient was discharged after 10 days.
Figure 3: Post-operative two-dimensional transthoracic echocardiographic suprasternal arch view with color Doppler interrogation displaying patency of reconstructed arch and arch vessel Discussion High velocity jet across supravalvular aortic stenosis may be the predisposing factor for infective endocarditis in Williams syndrome.[6] To the best of the authors' knowledge, only a few case reports were published denoting an occurrence of infective endocarditis in Williams syndrome; but, none reported the intractable course with pseudoaneurysm formation requiring replacement of arch at an early age. The first case report of infective endocarditis in a patient with Williams syndrome was published by Koh et al.[7] where an 18-year-old male presented with pyrexia of unknown origin, and on evaluation was found to have Williams syndrome and infective endocarditis, which was managed medically with antibiotics. De Rubens Figueroa et al.[8] reported a 5-year-old genetically confirmed case of William syndrome who developed infective endocarditis 15 days following cardiac catheterization. The patient had a fusiform aneurysm in cerebral vessels and was treated by neurosurgical intervention. Furthermore, the vegetations were excized and the ascending aorta and the arch were reconstructed by Doty repair.[9]
However, our patient had aortic arch pseudoaneurysm involving arch vessels along with infective endocarditis and supravalvular aortic stenosis. The vegetations were found in the arch near the origin of a major vessel that could embolize to cause catastrophe. Moreover, a pseudoaneurysm could have ruptured at any time. Therefore, it requires early intervention to avoid such life-threatening sequalae.
Conclusion William syndrome with infective vegetation and aortic arch pseudoaneurysm formation has a grave prognosis. Anesthetic alertness, surgical expertise, vigilant perioperative course, early intervention, finally the team effort is responsible for the successful outcome. Echocardiography is an excellent imaging modality that facilitates timely diagnosis, determining valvular involvement, presence of vegetation, pseudoaneurysm formation, and patency of arch vessel post repair. Therefore, echocardiography is a perioperative guiding tool.
Declaration of patient consent
The authors certify that they have obtained all appropriate 12 patient consent forms. In the form the patient(s) has/have 13 given his/her/their consent for his/her/their images and 14 other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
References 
Correspondence Address:
Neeti Makhija
Department of Cardiac Anaesthesia, Room No. 9, 7th Floor, Cardiothoracic Centre, All India Institute of Medical Sciences, Ansari Nagar, New Delhi - 110 029
India
Source of Support: None, Conflict of Interest: None
CheckDOI: 10.4103/aca.aca_122_21
Comments (0)