Coronary artery disease and anesthesia-related death in children with Williams syndrome

Horowitz, Peter E.; Akhtar, Salman; Wulff, John; Fadley, Fadel Al; Halees, Zohair Al

doi:10.1053/jcan.2002.128407

Cited by 60 publications

(39 citation statements)

References 13 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…11 The majority of patients with WS live until adulthood and the incidence of coronary artery disease is stated as less than 1%. 2 Wessel et al reported sudden death in five patients The rate of sudden death was estimated to be 1 per 1 000 patient years, which is the same as death following surgery for congenital cardiac disease, but 25 to 100 fold higher compared to age-matched general population. 17 The cause of sudden cardiac death can be related to the presence of coronary artery stenosis and in patients without coronary artery abnormalities, lethal arrhythmias can be considered.…”

Section: Discussionmentioning

confidence: 98%

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

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionmentioning

confidence: 98%

“…2 It was first described by Williams, Barratt-Boyes, and Lowe in 1961. 3 They described the presence of supravalvular aortic stenosis (SVAS), mental retardation and characteristic facial features which included a broad forehead, wide-set eyes, a wide mouth and a pointed chin.…”

Section: Discussionmentioning

confidence: 99%

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

View full text Add to dashboard Cite

show abstract

“…34 This fusion, or tethering, of the aortic valve to the sinotubular junction has been reported in association with sudden cardiac death in patients with WS who had SVAS. 70 The aortic valve may be thickened in up to 30% of patients with SVAS. 59 Bicuspid aortic valve has been reported in 25% to 39% of patients with SVAS 71,72 and in 5% to 12% of patients with WS.…”

Section: Other Structural Cardiac Abnormalitiesmentioning

confidence: 99%

Cardiovascular Disease in Williams Syndrome

2013

View full text Add to dashboard Cite

“…Hosszú QT-szindróma 13,6%-ban fordul elő Williams-szindrómában, repolarizációs zavarra az érintetteket szűrni javasolt [21]. A myocardialis elégte-lenség és repolarizációs zavar magasabb kockázata miatt általános anesztézia alkalmával fokozott figyelem szüksé-ges [22]. Magasvérnyomás-betegség bármely életkorban megjelenhet, előfordulási gyakorisága 40-50%.…”

Section: Cardiovascularis Betegségekunclassified

Williams–Beuren-szindróma (Williams-szindróma)

et al. 2017

View full text Add to dashboard Cite

A Williams-Beuren-szindróma minden etnikumban és nemben azonos gyakorisággal előforduló veleszületett genetikai betegség. Felismerése a mentális retardáció okának tisztázásán kívül azért is fontos, mert cardiovascularis, endokrinológiai, pszichiátriai, urológiai és egyéb betegségek bármely életkorban történő megjelenését okozhatja. A közle-mény egy középkorú nő esetét mutatja be, akit gasztroenterológiai kórkép miatt hospitalizáltak. Klinikai észlelése során a típusos megjelenés, mentális retardáció, viselkedésmintázata alapján felmerült a Williams-szindróma gyanúja, amelyet később igazolni sikerült. Tudomásunk szerint ez a nőbeteg most Magyarországon a legidősebb, igazolt Williams-szindrómával élő páciens. Orv Hetil. 2017; 158(47): 1883-1888. Kulcsszavak: Williams-Beuren-szindróma, mentális retardáció, genetikai vizsgálat Williams-Beuren syndrome (Williams syndrome) Case reportWilliams syndrome is a rare genetic disorder, that occurs equally in all ethnic groups and both sexes. The diagnosis might be missed during childhood in mild cases. However, establishing the diagnosis is important, not only to find the cause of intellectual disability but to look for cardiovascular, endocrine, psychiatry, urology and other conditions, which can occur at any age in the patients' lifetime. This case report presents the story of 47-year-old woman, who was admitted with haematemesis. During her stay on the ward, in the light of the distinctive facial features, mental retardation, and social behaviour patterns, the possibility of Williams syndrome emerged. Later, the diagnosis was confirmed by genetic analysis. This female is the oldest living patient with Williams syndrome in Hungary. EsetismertetésEgy 47 éves nőbeteg került felvételre a Semmelweis Egyetem, Általános Orvostudományi Kar, II. Belgyó-gyászati Klinika Endokrinológiai Osztályára vérhányás iránydiagnózissal. A felső emésztőrendszer endoszkópos vizsgálata refluxbetegséget és gyomoreróziókat igazolt, tüneteit savgátló és bevonószer alkalmazásával kezelték. Osztályos észlelése során feltűnt nagyfokú dysmorphiás

show abstract

Coronary artery disease and anesthesia-related death in children with Williams syndrome

Cited by 60 publications

References 13 publications

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

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

Cardiovascular Disease in Williams Syndrome

Williams–Beuren-szindróma (Williams-szindróma)

Contact Info

Product

Resources

About