Cardiovascular disease in Williams syndrome.

@article{Collins2013CardiovascularDI,
  title={Cardiovascular disease in Williams syndrome.},
  author={Ronnie Thomas Collins},
  journal={Circulation},
  year={2013},
  volume={127 21},
  pages={
          2125-34
        }
}
Williams syndrome (WS), also referred to as Williams-Beuren syndrome (Online Mendelian Inheritance in Man 194050), is a congenital, multisystem disorder involving the cardiovascular, connective tissue, and central nervous systems.1 WS occurs in ≈1 in 10 000 live births2 as a result of the de novo deletion of ≈1.55 to 1.83 Mb on chromosome 7q11.23.3 Familial cases can occur but are far less common than de novo cases.4 The deletion involves 26 to 28 genes, including the ELN gene, which codes for the protein elastin.5 Hemizygosity of the ELN gene coding for elastin has been demonstrated to be responsible for the vascular pathology in WS.6 The remaining 25 to 27 deleted genes contribute to the phenotypic findings in patients with WS and have recently been reviewed in detail elsewhere.5 In 1961, Williams et al7 reported their experience with 4 patients with supravalvar aortic stenosis (SVAS), mental retardation, and abnormal facial features. [...] Key MethodExpand
Williams syndrome
TLDR
An overview of the epidemiology, genetic aetiology, diagnosis, common manifestations and management of this syndrome is provided as well as of how quality of life is affected in individuals with Williams syndrome and their families. Expand
[Williams-Beuren syndrome (Williams syndrome). Case report].
TLDR
This female is the oldest living patient with Williams syndrome in Hungary, and the possibility of Williams syndrome emerged during her stay on the ward, when the diagnosis was confirmed by genetic analysis. Expand
Hypertension in Children and Adolescents with Turner Syndrome (TS), Neurofibromatosis 1 (NF1), and Williams Syndrome (WS)
TLDR
There is a high prevalence of masked hypertension in TS; however, the extent to which control of the BP helps reduce the risk of aortic dissection/aneurysm in TS is not yet fully elucidated. Expand
Neonatal myocardial infarction in Williams–Beuren syndrome
TLDR
The case of a 2-week-old infant with neonatal myocardial infarction due to severe coronary artery insufficiency is reported and it is found that degree of supravalvar aortic stenosis or left ventricular outflow tract obstruction were predictors of coronary artery stenosis. Expand
Human Genetics of Ventricular Septal Defect
TLDR
The broad genetic heterogeneity observed in VSD patients is described, considering recent advances in this field, which enabled the discovery of a high number of different copy number variations, leading to gain or loss of chromosomal regions often containing multiple genes, in patients with VSD. Expand
Pulmonary arteries of Williams syndrome patients exhibit altered serotonin metabolism genes and degenerated medial layer architecture
TLDR
Serotonin pathway signaling is significantly altered in the pulmonary arteries of patients with Williams syndrome and severe peripheral arterial stenosis and the findings provide direction for the development of potential therapies to treat pulmonary artery stenosis in patients withWilliams syndrome. Expand
Genetics of inherited cardiocutaneous syndromes: a review
TLDR
The overlapping pathways in the development of the skin and heart, as well as the resulting syndromes, are reviewed to highlight several cutaneous clues that may help physicians screen and uncover cardiac anomalies that may be otherwise hidden and result in sudden cardiac death. Expand
Williams-Beuren Syndrome: Computed Tomography Imaging Review
TLDR
A retrospective analysis of all the available images from patients diagnosed with Williams-Beuren syndrome in last 4 years is performed, and key imaging findings are presented along with a review of the literature to summarize the clinically relevant features as demonstrated by multidetector computed tomography in WBS. Expand
Silent Sinus Syndrome and Williams Syndrome: Two Rare Diseases Found in a Pediatric Patient
TLDR
This case report shows for the first time that facial asymmetry in WS can be caused by silent sinus syndrome and highlights the need for early identification of this complication in patients with syndromes characterized by dysmorphic facial features. Expand
Anesthetic Considerations for Patients With Williams Syndrome.
TLDR
Clinical characteristics of WS are discussed along with particular anesthetic considerations for the anesthesiologist caring for patients with WS presenting for non-cardiac surgery. Expand
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References

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Clinical significance of prolonged QTc interval in Williams syndrome.
  • R. Collins
  • Medicine
  • The American journal of cardiology
  • 2011
TLDR
An autopsy on 1 of the patients with QTc rolongation demonstrated no evidence of supravalvar aoric stenosis or stenosis of the coronary ostia; the other atient died at an outside facility, and an autopsy was not erformed. Expand
The Williams-Beuren Syndrome—A Window into Genetic Variants Leading to the Development of Cardiovascular Disease
TLDR
In this issue of PLoS Genetics, Campuzano and colleagues replicate the WBS cardiovascular phenotype in a WBS mouse model with and without a deletion of the Ncf1 gene, which has broad implications for the understanding of hypertensionand reactive oxygen species (ROS)-related cardiovascular disease. Expand
Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patients.
TLDR
A remarkable diagnostic delay in patients who present to genetic evaluation because of mental retardation and/or peculiar neuropsychological profile lacking an evident cardiopathy is underlines and confirms the multi-systemic nature of WS leading to a high clinical presentation's variability and complex follow-up strategies. Expand
Williams (Williams Beuren) Syndrome: A Distinct Neurobehavioral Disorder
TLDR
The clinical features of Williams beuren syndrome are addressed, with emphasis on early recognition, which may improve outcome, and recent progress in defining the molecular basis of Williams Beuren syndrome is discussed. Expand
Long-term outcomes of patients with cardiovascular abnormalities and williams syndrome.
TLDR
CVAs are common in patients with WS, but supravalvar aortic stenosis and peripheral pulmonary stenosis occurred less frequently in this large cohort than previously reported. Expand
Genetic approaches to cardiovascular disease. Supravalvular aortic stenosis, Williams syndrome, and long-QT syndrome.
TLDR
Molecular genetic analyses of long-QT syndrome, supravalvular aortic stenosis, and Williams syndrome have begun to unravel the mechanisms underlying these inherited disorders. Expand
Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome.
TLDR
Potential links between elastin expression and arteriopathy, possible explanations for disease variability, and current treatment options and their limitations are described, and several new directions for the development of nonsurgical preventative therapies based on insights fromElastin biology are proposed. Expand
Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome.
TLDR
The present data do not support presence of imprinted genes in the WBS common deletion despite a nonsignificant excess of maternal over paternal deletions, and pairwise comparisons between individual WBS clinical features revealed significant associations between low birth weight and poor postnatal weight gain and transient infantile hypercalcemia and a stellate iris pattern. Expand
Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome
TLDR
Hemizygosity at the elastin locus is identified using genetic analyses in four familial and five sporadic cases of Williams syndrome, indicating that deletions involving oneElastin allele cause WS and implicate elast in hemizygosa in the pathogenesis of the disease. Expand
Sudden death in Williams syndrome: report of ten cases.
TLDR
It is suggested that sudden death is a more common complication than has been assumed previously and strategies for monitoring patients with WS should be developed in an attempt to identify those at increased risk of sudden death. Expand
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