A Large Turkish Cohort of Williams Syndrome: The Evaluation of Facial, Cardiovascular, and Neuropsychiatric Features

Bozlak, Serdar; Alkaya, Dilek Uludağ; Kasap, Büşra; Ülker, Aylin Yüksel; Yıldız, Ceren Ayça; Altındağ, Veysel; Ülkersoy, İpek; Sunamak, Evrim Çifçi; Dedeoğlu, Reyhan; Tüysüz, Beyhan

doi:10.5152/turkarchpediatr.2023.22212

Cited by 1 publication

(4 citation statements)

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“…Since many patients with Williams syndrome have been shown to present with aortic abnormalities (Collins et al, 2010; Parrish et al, 2020; Bozlak et al, 2023), we studied the 3D morphology of the aortas using µCT. WBS +/- mice have more dilated aortic roots and longer ascending aortas than their wild-type littermates (Fig.…”

Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

“…Cardiovascular abnormalities, to which patients with Williams syndrome are predisposed, are the main cause of morbidity and mortality and occur in 80% of patients (Collins et al, 2010; Parrish et al, 2020; Bozlak et al, 2023). Of these, supravalvular aortic stenosis (SVAS) is the most common, affecting up to 70% of patients (Collins et al, 2010; Parrish et al, 2020; Bozlak et al, 2023). Peripheral pulmonary artery stenosis (PAS), and to a lesser extent also coarctation of the aorta, ventricular septal defect, patent ductus arteriosus, subaortic stenosis, and hypertrophic cardiomyopathy are also observed in Williams syndrome (Collins et al, 2010; Bozlak et al, 2023).…”

Section: Introductionmentioning

confidence: 99%

“…Of these, supravalvular aortic stenosis (SVAS) is the most common, affecting up to 70% of patients (Collins et al, 2010; Parrish et al, 2020; Bozlak et al, 2023). Peripheral pulmonary artery stenosis (PAS), and to a lesser extent also coarctation of the aorta, ventricular septal defect, patent ductus arteriosus, subaortic stenosis, and hypertrophic cardiomyopathy are also observed in Williams syndrome (Collins et al, 2010; Bozlak et al, 2023).…”

Section: Introductionmentioning

confidence: 99%

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Vascular abnormalities in heart and brain are associated with cardiovascular and neurological symptoms in a novel mouse model for Williams syndrome

el Azzouzi,

Bosman,

Kros

et al. 2023

Preprint

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Williams syndrome is a developmental disorder caused by a microdeletion entailing loss of a single copy of 25-27 genes on chromosome 7q11.23. Patients with Williams syndrome suffer from cardiovascular and neuropsychological symptoms. So far, the structural abnormalities of the cardiovascular system in Williams syndrome have been attributed to the loss of a copy of the elastin (ELN) gene. In contrast, the neuropsychological consequences of Williams syndrome, including motor deficits, hypersociability and cognitive impairments, have been mainly attributed to altered expression of transcription factors like LIMK1, GTF2I and GTF2IRD1, while the potential secondary impact of altered cerebrovascular function has been largely ignored. To study the relation between the mutation underlying Williams syndrome and vascularization of not only the heart but also that of the brain, we generated a mouse model with a relatively long microdeletion, including theNcf1gene to reduce the confounding impact of hypertension. The affected mice had an elongated and tortuous aorta, but unlike inElnhaploinsufficient mice, there were no signs of structural cardiac hypertrophy. Our Williams syndrome mice had similar structural abnormalities in their coronary and brain vessels, showing disorganized extracellular matrices of the vessel walls. Moreover, our mouse model faithfully replicated both cardiovascular and neurological symptoms of Williams syndrome, highlighting that accurate non-invasive evaluation of complex vascular abnormalities is feasible. Altogether, we present evidence for vascular malformations that are similar in heart and brain, suggesting that cardiovascular and neurological symptoms can both by impacted by changes in the vascular structure in patients with Williams syndrome.

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Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Vascular abnormalities in heart and brain are associated with cardiovascular and neurological symptoms in a novel mouse model for Williams syndrome

el Azzouzi,

Bosman,

Kros

et al. 2023

Preprint

View full text Add to dashboard Cite

show abstract

A Large Turkish Cohort of Williams Syndrome: The Evaluation of Facial, Cardiovascular, and Neuropsychiatric Features

Cited by 1 publication

References 39 publications

Vascular abnormalities in heart and brain are associated with cardiovascular and neurological symptoms in a novel mouse model for Williams syndrome

Vascular abnormalities in heart and brain are associated with cardiovascular and neurological symptoms in a novel mouse model for Williams syndrome

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