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  Table of Contents 
Year : 2016  |  Volume : 17  |  Issue : 2  |  Page : 62-64

A child of Williams-Beuren syndrome for inguinal hernia repair: Perioperative management concerns

1 Department of General Anaesthesia, Institute of Critical Care and Anaesthesiology, Medanta - The Medicity, Gurgaon, Haryana, India
2 Department of Pediatric Surgery, Medanta - The Medicity, Gurgaon, Haryana, India

Date of Submission25-Aug-2016
Date of Acceptance02-Oct-2016
Date of Web Publication16-Dec-2016

Correspondence Address:
Dr. Jyotirmoy Das
403, Aero View Heights, Sector 22, Dwarka, New Delhi - 110 077
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0973-0311.194268

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Williams-Beuren syndrome, commonly known as Williams syndrome (WS), is a multi-organ disorder. The principal anomalies of the syndrome are developmental delay, unusual craniofacial dysmorphic features, and cardiovascular anomalies such as valvular or supravalvular aortic stenosis, pulmonary artery stenosis, and coronary insufficiency. Sudden cardiac death during minor procedures even in the absence of gross cardiovascular pathology is the most dreaded complication in these patients. A 7-year-old child with WS was posted for left-sided inguinal hernia repair under general anesthesia. Our article describes the uneventful perioperative course of the patient and highlights the concerns and complications that may be an integral part with the syndrome.

Keywords: Myocardial ischemia, pulmonary stenosis, sudden cardiac death, supravalvular aortic stenosis, Williams syndrome

How to cite this article:
Deka S, Das J, Khanna S, Mehta Y, Luthra M. A child of Williams-Beuren syndrome for inguinal hernia repair: Perioperative management concerns. Indian Anaesth Forum 2016;17:62-4

How to cite this URL:
Deka S, Das J, Khanna S, Mehta Y, Luthra M. A child of Williams-Beuren syndrome for inguinal hernia repair: Perioperative management concerns. Indian Anaesth Forum [serial online] 2016 [cited 2023 May 30];17:62-4. Available from: http://www.theiaforum.org/text.asp?2016/17/2/62/194268

  Introduction Top

Williams syndrome (WS) with an annual incidence of 1 in 20,000-50,000 live births results[1] from a deletion on the long arm of chromosome 7q11.23,[2] which codes for several genes including the elastin (ELN) gene. ELN gene carries the code for tropoelastin. Systemic vasculopathy results from reduced ELN formation (approximately 15% of the normal quantity).[3] Compensatory hypertrophy of the smooth muscle cells and increased collagen content make the vessels less distensible with elevated systolic pressure and reduced diastolic pressures. Smaller vessels are spared as smooth muscle, and collagen forms the building blocks in these vessels. Common cardiac anomalies include supravalvular aortic stenosis[4] and pulmonary artery stenosis (may be severe in 40% of the patients). Strictures may also occur in the aortic arch, innominate, carotid, renal, and mesenteric arteries.[5],[6] Right ventricular pressure overload and hypertrophy can further complicate the scenario with time. The aortic valve may also be pathologically involved resulting in further left ventricular outflow tract obstruction. Idiopathic hypercalcemia occurs in approximately 15%-50% of the infants with WS with resolution by the age of 4 years.

  Case Report Top

A 7-year-old boy weighing 28 kg was posted for left-sided inguinal hernia repair in our institute. He was diagnosed with WS at the age of 1 year when he was evaluated for failure to thrive and developmental delay. Physical examination revealed characteristic facial features (elfin facies) with upturned nose, wide mouth, full lips, and widely spaced teeth [Figure 1]. He had borderline intelligence and an overtly friendly nature which is a hallmark of WS. There was no history of other major illness since birth.
Figure 1: Characteristic facial features of Williams syndrome in our patient

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On physical examination, vital signs were found to be within normal limits for his age (heart rate of 100/min, blood pressure of 90/60 mmHg, and SpO2 98% on room air). The patient had a history of mouth breathing and mild snoring, for which consultation was sought and a diagnosis of enlarged adenoids was made. Airway examination was otherwise insignificant. Laboratory investigations and chest radiograph were within normal limits. Transthoracic echocardiography revealed mild supravalvular aortic stenosis, mild mitral regurgitation, normal ejection fraction of 60%, and mild peripheral pulmonary stenosis with peak gradient of 20 mmHg. The child was kept nil orally for 6 h prior to surgery and maintenance fluid (ringer's lactate) was started at 60 ml/h. Standard hemodynamic, gas, and airway monitoring was targeted. After preoxygenation and 50 mcg of fentanyl, anesthesia was induced with 40 mg propofol and 10 mg atracurium. A 2.5-sized laryngeal mask airway (LMA) was inserted and the patient was maintained on pressure control mode of ventilation with oxygen, air, and sevoflurane. Intraoperatively, the vitals and other hemodynamic parameters remained stable. For postoperative analgesia, skin infiltration with 0.25% bupivacaine and paracetamol 400 mg eight hourly was planned. The total duration of herniotomy was 45 min. Residual effect of neuromuscular blockade was reversed with injection neostigmine (0.04 mg/kg) + glycopyrrolate (0.01 mg/kg), and LMA was removed. The patient was shifted to the postoperative care unit with continuous monitoring where he was kept for 3 h. On 2nd postoperative day, the patient was discharged.

  Discussion Top

The characteristic features of WS are growth delay, mental retardation, full face, cheek and lips, broad forehead, short nose with a broad tip, and a wide mouth. Small, widely spaced, crooked or missing teeth can also be seen. In older children, the face appears longer and gaunter as in our patient. Airway difficulty is generally not encountered in these patients. Till now, no guidelines or recommendations are available for the anesthetic or perioperative management of WS patients. Medley et al. had recommended screening for thyroid function and avoidance of succinylcholine to obviate the risk of hyperkalemia in such patients.[7] Couple of recommendations put forwarded by Burch et al.[2] are proactive maintenance of sinus rhythm, age-appropriate heart rate and blood pressure.

Our patient's perioperative course was uneventful, and the anesthesia technique was routine. However, this should not deter the reader from the fact that even asymptomatic WS patients with mild echocardiography changes are potentially at a high risk in view of the many reports of sudden cardiac deaths in the literature.[3],[8],[9] When we delved into these reports of sudden cardiac deaths, some interesting facts about the coronary circulation was observed worth mentioning.

  • Mechanical impairment of coronary blood flow into the sinus of Valsalva can happen due to adhesion of the right or left aortic leaflet edge to the narrowed sinotubular junction[3]
  • The ELN arteriopathy may also involve the coronary arteries[10]
  • Thickened aortic wall can directly narrow the coronary ostia
  • Displacement of the coronary ostia with subsequent obstruction by a leaflet[3]
  • Coronary artery dilation and tortuosity due to exposure of the coronary arteries to high prestenotic pressures may lead to the development of accelerated coronary atherosclerosis and coronary aneurysms.

These findings in sudden cardiac death patients of WS reveal that they can be at high risk even if routine preoperative echocardiographic findings show mild changes in the aortic or pulmonary arteries. The possibility of coronary artery compromise can exist through one or more mechanisms described above. Cardiac catheterization with coronary and aortic angiography or cardiac magnetic resonance imaging/computer tomography can be helpful in delineating obstruction to coronary blood flow. However, cardiac catheterization carries the risk of dysrhythmias, hemodynamic instability, exacerbation of outflow tract obstruction, creation of semilunar and atrioventricular valve insufficiency, or exacerbation of compromised coronary blood flow. Hence, its routine use can be debated, especially in view of the reports of sudden cardiac deaths during minor diagnostic procedures in WS patients.

  Conclusion Top

Patients with WS are at an increased risk of adverse events during anesthesia and sedation, and it is likely that they need to undergo several procedures that require anesthesia during their lifetime, and cases of perianesthetic cardiac arrest continue to be reported. A thorough preoperative workup including coronary evaluation is essential. Optimal management involves balancing the myocardial oxygen demand and supply ratio, good hydration, avoiding tachycardia or arrhythmias, hemodynamic instability, and high vigilance for evolving myocardial ischemia.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and 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


Conflicts of interest

There are no conflicts of interest.

  References Top

Horowitz PE, Akhtar S, Wulff JA, Al Fadley F, Al Halees Z. Coronary artery disease and anesthesia-related death in children with Williams syndrome. J Cardiothorac Vasc Anesth 2002;16:739-41.  Back to cited text no. 1
Burch TM, McGowan FX Jr., Kussman BD, Powell AJ, DiNardo JA. Congenital supravalvular aortic stenosis and sudden death associated with anesthesia: What′s the mystery? Anesth Analg 2008;107:1848-54.  Back to cited text no. 2
Pober BR, Johnson M, Urban Z. Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome. J Clin Invest 2008;118:1606-15.  Back to cited text no. 3
Urbán Z, Zhang J, Davis EC, Maeda GK, Kumar A, Stalker H, et al. Supravalvular aortic stenosis: Genetic and molecular dissection of a complex mutation in the elastin gene. Hum Genet 2001;109:512-20.  Back to cited text no. 4
Doty DB. Supravalvar aortic stenosis. Ann Thorac Surg 1991;51:886-7.  Back to cited text no. 5
Hazekamp MG, Kappetein AP, Schoof PH, Ottenkamp J, Witsenburg M, Huysmans HA, et al. Brom′s three-patch technique for repair of supravalvular aortic stenosis. J Thorac Cardiovasc Surg 1999;118:252-8.  Back to cited text no. 6
Medley J, Russo P, Tobias JD. Perioperative care of the patient with Williams syndrome. Paediatr Anaesth 2005;15:243-7.  Back to cited text no. 7
Collins RT 2 nd , Aziz PF, Gleason MM, Kaplan PB, Shah MJ. Abnormalities of cardiac repolarization in Williams syndrome. Am J Cardiol 2010;106:1029-33.  Back to cited text no. 8
Pham PP, Moller JH, Hills C, Larson V, Pyles L. Cardiac catheterization and operative outcomes from a multicenter consortium for children with Williams syndrome. Pediatr Cardiol 2009;30:9-14.  Back to cited text no. 9
van Pelt NC, Wilson NJ, Lear G. Severe coronary artery disease in the absence of supravalvular stenosis in a patient with Williams syndrome. Pediatr Cardiol 2005;26:665-7.  Back to cited text no. 10


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