2023 FSA Podium and Poster Abstracts

P073: PERIOPERATIVE MANAGEMENT OF WILLIAMS SYNDROME IN AN ADULT
Michael I Aguad, MD¹; Frank Rigueiro, BS²; Benjamin Houseman, MD, PhD, FASA³; Justin Sabates, CAA³; ¹Memorial Health System; ²Indiana University School of Medicine; ³Envision Physician Services

INTRODUCTION: Williams syndrome is a rare genetic disorder that results from a deletion of a portion of chromosome 7, affecting the production of elastin and several other proteins (1). Patients with Williams syndrome commonly present with cardiac abnormalities, including supravalvular aortic stenosis (most common), pulmonary artery stenosis, coronary artery abnormalities and prolonged QT intervals (2, 3). Compared to the general population, these individuals face a markedly increased risk of sudden cardiac death, and roughly 20% of patients require surgical intervention during their adolescent years (4). Here we review the perioperative management of an adult male with Williams Syndrome presenting for laparoscopic cholecystectomy.

CASE REPORT: A 40-year-old male with no past surgical history presented to the emergency department with nausea and vomiting. Workup revealed gallstone pancreatitis, and he was scheduled for laparoscopic cholecystectomy. His past medical history was significant for Williams Syndrome with known supravalvular aortic stenosis, liver cancer and venous thromboembolism x years prior. The patient denied chest pain or dyspnea and endorsed >4 METS activity at home. He had been followed cardiologist regularly with a recent echocardiogram showing an EF of 57%, gradient of 35 mmHg and peak velocity of 4.3 m/s.

Following premedication with midazolam and fentanyl, general anesthesia was induced with propofol, fentanyl and rocuronium. Endotracheal intubation was uneventful. Phenylephrine was utilized intermittently throughout the case to maintain diastolic pressures, and particular attention was paid to hemodynamics during slow, controlled insufflation of the abdomen. Esmolol was titrated to avoid tachycardia. Following completion of the procedure, he was taken to recovery without incident and discharged home on postoperative day one.

DISCUSSION: The formulation of a safe anesthetic plan for patients with Williams syndrome requires careful attention to multiple organ systems. Prolonged periods of fasting should be avoided to maintain preload, and it is recommended to monitor serum calcium, blood glucose, and renal function due to increased incidence of abnormalities in these patients (1, 2, 5). Finally, patients with Williams syndrome may display increased sensitivity to anesthetic agents due to hepatic insufficiency (2).

We felt comfortable proceeding with a general anesthetic in this case without additional cardiac evaluation or invasive monitoring because our patient endorsed good cardiac functional status and had a relatively recent cardiac assessment. Careful attention to hemodynamics permitted an uneventful case with discharge home.