Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome

Pober, Barbara R.; Johnson, Mark D.; Urban, Zsolt

doi:10.1172/jci35309

Cited by 190 publications

(182 citation statements)

References 115 publications

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“…19 WBS is due to a microdeletion of a portion of chromosome 7q11.23, 20 which includes parts of the elastin gene and leads to reduced elastin synthesis and increased proliferation of vascular smooth muscle cells and fibroblasts. 21 Vascular involvement is common (60%-80% of affected individuals) in WBS and is characterized by nar- Figure 1.…”

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confidence: 99%

Peripheral Pulmonary Artery Stenosis as a Cause of Pulmonary Hypertension in Adults

et al. 2015

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Peripheral pulmonary artery stenosis (PPAS) is an underrecognized condition in the adult population. PPAS can lead to pulmonary hypertension but is likely misdiagnosed as either idiopathic pulmonary arterial hypertension or chronic thromboembolic pulmonary hypertension. We retrospectively identified adult patients with PPAS either in its isolated form or related to other congenital defects from January 1998 to September 2012. We reviewed the patients' clinical data by using our hospital electronic medical records and/or their paper charts. We identified 6 adult patients with PPAS with an age range of 16-56 years (1 woman and the rest men). Presenting signs and symptoms were thoracic murmurs, progressive dyspnea, and syncope. Three patients had Williams-Beuren syndrome. Pulmonary angiography showed that PPAS was predominantly located in main branches or lobar pulmonary arteries in 5 patients, while in 1 patient the arterial narrowing was at the level of the segmental pulmonary arteries. Right heart catheterization showed a mean pulmonary artery pressure (PAP) ranging from 35 to 60 mmHg. Balloon dilation was performed in all patients, predominantly in the lobar arteries, and it caused a decrease in mean PAP that ranged from 16% to 46% in 5 patients. In 1 patient the mean PAP did not decrease. All but 1 patient had follow-up echocardiograms at 1 year that showed stable echocardiographic findings. Pulmonary hypertension due to PPAS continues to presents a diagnostic challenge. Therefore, a high index of suspicion during the initial evaluation of pulmonary hypertension is essential for its prompt diagnosis and adequate treatment.

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Peripheral Pulmonary Artery Stenosis as a Cause of Pulmonary Hypertension in Adults

et al. 2015

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“…48 This may be due to a common developmental defect, which is hypothesized to be responsible for the coexistence of bicuspid aortic valve and aortic root enlargement. 16 In several congenital heart defects abnormalities of the tunica media with elastic fiber fragmentation have been histological identified. 10 Cono-truncal malformations such as tetralogy of Fallot, common arterial trunk, complete transposition of the great arteries, double outlet ventricles, univentricular hearts and aortic coarctation should be noted.…”

Section: Distensibilitymentioning

confidence: 99%

“…4, 5 A number of pathological conditions in childhood can potentially induce changes in arterial properties, having profound effects on prognosis, as could be demonstrated in patients with arterial hypertension, 6-8 vasculitis and vasculopathies, 9 in patients with aortic coarctation, 10 with congenital heart disease, 11 in diabetes mellitus type I, 12 in patients after anthracycline chemotherapy 13 and in obese children. 14 Aortic wall elasticity may also be of importance in the follow-up of patients with fibrillinopathies such as Marfan and Williams syndromes 15, 16 and in individuals with bicuspid aortic valve, 17,18 prone to develop aortic aneurysm.…”

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Elastic Properties of the Ascending Aorta in Healthy Children and Adolescents

Hauser

Kühn

Petzuch

et al. 2013

Circ J

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Background:Compliance of the aorta is important in maintaining normal cardiovascular physiology. Pathological conditions can induce changes in elastic properties, having profound effects on their prognosis. The aim of this study was to establish age-related reference values for distensibility and wall stiffness index of the ascending aorta. Methods and Results:A total of 165 normal subjects (mean age, 11.92±4.0 years) were investigated on transthoracic echocardiography. Ascending aortic diameter was recorded in M-mode above the sinotubular junction. Blood pressure was measured simultaneously at the right arm. Aortic pulse pressure, distensibility and aortic wall stiffness index were calculated offline. Distensibility decreased significantly with age (r=−0.462, P<0.001); the regression line indicated an average decrease of 5.1 10 −3 kPa −1 (95% confidence interval [CI]: 3.9-6.8 10 −3 kPa −1 ) per year. Significant correlations could be found between distensibility and weight, height, body surface area (BSA) and body mass index (BMI) (P<0.001). Stiffness index increased significantly with age (r=0.399, P<0.001); the regression line indicated an average increase of 0.066 (95% CI: 0.047-0.085) per year; significant correlations could be found between wall stiffness index and weight, height, BSA and BMI (P<0.001). The 2.5th and 97.5th percentiles of the distribution of distensibility and stiffness index related to age, weight, height, BSA and BMI were calculated. Conclusions:Normal values of arterial elastic properties throughout childhood and adolescence have been provided, and might serve as a reference for individuals with cardiovascular and metabolic disease. (Circ J 2013; 77: 3007 -3014)

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“…В литературе описаны наиболее частые варианты эластиновой артериопа-тии: надклапанный стеноз аорты, стенозы других сегментов аорты, периферические стенозы легоч-ной артерии, стеноз коронарных, сонных, мозговых, почечных артерий. Надклапанный стеноз аорты яв-ляется наиболее клинически значимым и наиболее распространенным врожденным пороком развития у детей с синдромом Вильямса, встречается в 75% случаев [4,5]. При естественном течении порока обструкция выходного тракта левого желудочка про-грессирует с возрастом, обычно до 20 лет.…”

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