Cardiovascular disease in Williams syndrome

Collins, R. Thomas

doi:10.1097/mop.0000000000000664

Cited by 103 publications

(118 citation statements)

References 74 publications

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“…Normal levels of elastin are responsible for the distensibility of the aorta during systole and its subsequent recoil during diastole . Hydrodynamic energy is stored during systole and released during diastole, a phenomenon known as the Windkessel effect . The loss of this effect, which normally occurs with aging, produces a wide pulse pressure with elevated systolic and reduced diastolic blood pressures.…”

Section: Pathophysiologymentioning

confidence: 99%

“…Angiotensin converting enzyme inhibitors (ACEI) would be contraindicated if renal artery stenosis is present due to the increased risk of causing renal dysfunction. Alternative therapies for hypertension in patients with Williams syndrome include calcium channel blockers and beta‐blockers, the latter may also have additional benefits of decreasing the risks of arrhythmias and sudden death . Recently, pharmacological therapies which target the vascular wall abnormalities in Williams syndrome have been the focus of research.…”

Section: Medical Interventional and Surgical Managementmentioning

confidence: 99%

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Williams syndrome

Twite

Stenquist

Ing

2019

Pediatric Anesthesia

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Summary Williams syndrome affects approximately one in 10 000 people and is caused by the deletion of genes on chromosome 7q11.23 which code for elastin. The phenotypic appearance of people with Williams syndrome is well characterized, but there continues to be new genetic and therapeutic discoveries. Patients with Williams syndrome have increased morbidity and mortality under sedation and anesthesia, largely as a result of cardiovascular abnormalities. This review article focuses on new information about Williams syndrome and outlines a structured approach to patients with Williams syndrome in the perioperative period.

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Section: Pathophysiologymentioning

confidence: 99%

Section: Medical Interventional and Surgical Managementmentioning

confidence: 99%

Williams syndrome

Twite

Stenquist

Ing

2019

Pediatric Anesthesia

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“…Ez a kardiális rendellenesség annyira jellegzetes WS-ben, hogy a kezdetben csak SVAS-sal diagnosztizált gyermekek 25%-ában a kiegészítő vizsgálatok végül Williams-szindrómát igazolnak. Előfordul még arteria pulmonalis stenosis, középaorta-szindróma, arteria renalis stenosis, coronariaszűkületek, mitralisbillentyű-elégtelenség, bicuspidalis aortabillentyű, illetve stenosis egyéb helyeken (intracranialisan, végtagokon, nyaki verőereken) [18]. A periféri-ás pulmonalis stenosis (PPS) csecsemőkorban gyakori, és később javulást mutat.…”

Section: Cardiovascularis Betegségekunclassified

Williams–Beuren-szindróma (Williams-szindróma)

et al. 2017

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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

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“…(27) In addition to valve morphology, more complete phenotypic classifications also include typing of aortic dilation. (25) In most patients, a BAV is an isolated anomaly, but can be more prevalent in certain conditions ( (47)(48)(49) 23% (50) 84 -89% (51,52) 39 -47% (53,54) 14 -30% (56)(57)(58) 5 -11% (55,59) Notes Large variability due in part due to heterogeneous reporting and nomenclature Subaortic stenosis predisposes to valve damage leading to aortic regurgitation Recurrence of subaortic stenosis after resection is common (20%) BAV was not initially described as part of the Shone complex Frequent structural abnormalities of aortic valve are present (55) 95% show R-L cusp fusion High prevalence of both ascending aortic dilation and aortic coarctation…”

Section: Phenotypementioning

confidence: 99%

“…Other common valvular pathology in Williams syndrome include supravalvar aortic stenosis, peripheral pulmonary stenosis, mitral valve prolapse, mitral regurgitation and supravalvar pulmonary stenosis (55) FIGURE 2: Bicuspid aortic valve (BAV) classifi cation and prevalence of each morphology. Each schematic diagram shows the 3 aortic sinuses with the left and right coronary ostia.…”

Section: Phenotypementioning

confidence: 99%

Bicuspid aortic valve disease

Lee

Otto

2017

SAHJ

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and pulmonary valves with the leaflets developing via a process of cavitation into three distinct layers (fibrosa, spongiosa, and ventricularis). (11) The development of the aorta is also a complex process in which the common truncus arteriosus is septated into the aorta and pulmonary arteries. Abnormalities in septation are the cause of common congenital heart defects such as tetraology of Fallot. This process is also likely related to the migration of cardiac neural crest cells from the pharyngeal arches and heart; (10) and these neuronal crest cells may be similar in origin to the cells involved in the development of the aortic outflow tract and aortic valve.

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Cardiovascular disease in Williams syndrome

Cited by 103 publications

References 74 publications

Williams syndrome

Williams syndrome

Williams–Beuren-szindróma (Williams-szindróma)

Bicuspid aortic valve disease

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