Sudden death in Williams syndrome: Report of ten cases

Bird, Lynne M.; Billman, Glenn F.; Lacro, Ronald V.; Spicer, Robert L.; Jariwala, Leena; Hoyme, H. Eugene; Zamora-Salinas, R.; Morris, Colleen A.; Viskochil, David; Frikke, M. J.; Jones, Marilyn C.

doi:10.1016/s0022-3476(96)70042-2

Cited by 177 publications

(155 citation statements)

References 32 publications

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“…5 There might also be intimal fibrosis in the coronary arteries as a result of the increased pressure transmitted to the vessels. 5 Both Wessel et al 17 and Bird et al 19 indicated that the severity of the SVAS is not a predictor for sudden death.…”

Section: Discussionmentioning

confidence: 99%

“…5,19,20 Wessel et al made the distinction in their study and excluded the deaths during anaesthesia from the sudden-death group. 17 In the study by Bird et al pathological findings in two of the seven patients showed anatomic abnormalities that predisposed the individuals to sudden death (coronary artery stenosis and biventricular outflow tract obstruction).…”

Section: Discussionmentioning

confidence: 99%

“…17 In the study by Bird et al pathological findings in two of the seven patients showed anatomic abnormalities that predisposed the individuals to sudden death (coronary artery stenosis and biventricular outflow tract obstruction). 19 Left ventricular outflow obstruction due to a stenotic valve or subvalvular stenosis/hypertrophy will compromise coronary perfusion. Anaesthetic agents such as propofol or sevoflurane are well known for their vasodilatory properties, which will decrease afterload and worsen the effects on myocardial oxygen supply.…”

Section: Discussionmentioning

confidence: 99%

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

Toit-Prinsloo

Dippenaar

Honey

2015

Southern African Journal of Anaesthesia and Analgesia

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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.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

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

Toit-Prinsloo

Dippenaar

Honey

2015

Southern African Journal of Anaesthesia and Analgesia

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“…Hornik et al 53 reminded that the major adverse cardiac events were significantly more common after combined left and right outflow tract procedures than after complex left outflow tract or isolated SVAS procedures. Bird et al 54 provided with pathological evidences of coronary artery stenosis and severe biventricular outflow tract obstruction as causes of sudden death in 5 of 10 WS patients. Eronen et al 26 reported one WS patient without receiving an operation Author Patient number…”

Section: Adverse Cardiac Eventsmentioning

confidence: 99%

Congenital heart defects in Williams syndrome

Yuan¹

2017

Turk J Pediatr

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Williams syndrome (WS), also known as Williams-Beuren syndrome, is a rare genetic disorder involving multiple systems including the circulatory system. However, the etiologies of the associated congenital heart defects in WS patients have not been sufficiently elucidated and represent therapeutic challenges. The typical congenital heart defects in WS were supravalvar aortic stenosis, pulmonary stenosis (both valvular and peripheral), aortic coarctation and mitral valvar prolapse. The atypical cardiovascular anomalies include tetralogy of Fallot, atrial septal defects, aortic and mitral valvular insufficiencies, bicuspid aortic valves, ventricular septal defects, total anomalous pulmonary venous return, double chambered right ventricle, Ebstein anomaly and arterial anomalies. Deletion of the elastin gene on chromosome 7q11.23 leads to deficiency or abnormal deposition of elastin during cardiovascular development, thereby leading to widespread cardiovascular abnormalities in WS. In this article, the distribution, treatment and surgical outcomes of typical and atypical cardiac defects in WS are discussed.

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“…1 Sudden cardiac death has been reported in the perioperative period and attributed to cardiovascular pathology. [2][3][4] Here we are reporting a case of successful perioperative management of a paediatric patient who underwent a laparotomy for strangulated inguinal hernia.…”

Section: Introductionmentioning

confidence: 99%