P022: WILLIAMS SYNDROME-BE AWARE AND BEWARE
Spencer B Hyde, DO, Ilan Keidan, MD; Department of Anesthesiology, University of Florida College of Medicine
Introduction: Williams-Beuren syndrome, commonly known as Williams syndrome (WS), results from the deletion of the long arm on chromosome 7 that codes for the elastin gene (ELN). ELN is involved in elastic vascular wall fiber assembly. The genetic defect can lead to a number of vascular pathologies, with aortic stenosis being amongst the most concerning. In addition WS patients also suffer from significant developmental delay, craniofacial dysmorphic features, and are predisposed to a myriad of gastroinstestinal and endocrine disorders.
Case Report: 39 year old male with past medical history of WS, bicuspid aortic valve, paroxysmal atrial fibrillation, obstructive sleep apnea, ulcerative colitis and diverticulitis was admitted with abdominal pain and small bowel obstruction. He was urgently taken to the operating room for exploratory laparotomy. Patient was induced with etomidate and following succinylcholine administration intubation was uneventful with video laryngoscopy. A right radial arterial line was placed prior to incision. Patient became progressively tachycardic and required increasing hemodynamic support with vasopressin and phenylephrine infusions. Central access was achieved intraoperatively with subsequent blood product administration. Patient required small bowel resection with total abdominal colectomy. Hemodynamic stability was maintained throughout procedure, patient remained intubated in presumed septic shock, and was transported to the ICU on continued pressor support.
Discussion: Williams Syndrome provides a unique challenge to anesthesiologists. Anesthesia-related cardiac arrest has been described as a very common complication. In addition, airway instrumentation may also be difficult. Therefore, a thorough preoperative workup and risk assessment are essential for proper anesthetic management. Anesthetic goals include preservation of sinus rhythm; maintenance of preload, contractility, and systemic vascular resistance; and avoidance of increased pulmonary vascular resistance.
References: Matisoff, A. (2015). Risk assessment and anesthetic management of patient with Williams syndrome: a comprehensive review. Pediatric Anesthesia, 25(12), 1207-1215
Gupta P, Tobias JD, Goyal S, Miller MD, Melendez E, Noviski N, De Moor MM, Mehta V(2010). Sudden cardiac death under anesthesia in pediatric patient with Williams syndrome: A case report and review of literature. Ann Card Anaesth, 13:44-8