Case report of sudden death in a child with Williams syndrome following administration of anaesthesia

Abstract

Williams syndrome is a neurodevelopmental disorder characterized by distinctive personality traits, facial features (so called "elfin face") and cardiac abnormalities, of which supravalvular aortic stenosis is the most common lesion found. The cause is a deletion of a group of genes on chromosome 7q11.23. Administration of anaesthesia to these patients carries a higher risk for sudden death due to the cardiac defects. The purpose of this case study is to demonstrate the entity in the South African population, to review the literature, to put emphasis on the multi-disciplinary approach in the pre-operative management, and to review the medico-legal investigation of intra-operative deaths. Furthermore, administration of anaesthesia in the remote location and to syndromic children will also be discussed.

Perioperative morbidity in children with elastin arteriopathy

“…Our study is the first to analyze an entire cohort of children with EA undergoing anesthesia, and we report both the frequency and risk factors for perioperative morbidity (cardiac arrest, ECLS, and cardiac‐related complications). Our data confirm the suggestion in prior case reports and case series that the rate of cardiac arrest and major complications is very high in children with SVAS undergoing anesthesia . Among the 48 children with SVAS undergoing anesthesia at our institution, 7 children (15%) had a cardiac arrest, and another 7 children (15%) suffered 9 total intraoperative complications deemed to be specific to their cardiac disease.…”

Perioperative Care of a Child With Williams Syndrome

“…Due to the multisystem involvement of Williams syndrome, anesthetic care may be necessary for various radiologic or surgical procedures. Of primary concern during the perioperative care of these patients are previous reports of sudden cardiac death [4,[12][13][14][15][16]. Patients with congenital supravalvar aortic stenosis and associated peripheral pulmonary artery stenosis, the majority of whom have Williams syndrome, are at risk for development of myocardial ischemia resulting in sudden death due to arrhythmias or ventricular dysfunction [17,18].…”

Response to the letter,Williams syndrome: was intubation rather than anaesthetic drug choice a cause of cardiac arrest?

“…We reported on the case of sudden death in a child with Williams syndrome following administration of anaesthesia, 1 and would like to respond to the letter to the editor by Cook, 2 which alluded to the fact that the death could most probably have been caused by intubation rather than the anaesthetic drug choice. The second author, Dr .…”