ReviewThe Journal of clinical investigation2008
Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome.
Review in The Journal of clinical investigation, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 83 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
83 citing papers in PubMed, 1 synthesis or guideline pooled it, 204 citations in OpenAlex.
- Long-term surgical outcomes of congenital supravalvular aortic stenosis: a systematic review, meta-analysis and microsimulation study.European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery · 2024Pooled it
- Severe arterial hypertension, a silent complication of Williams-Beuren syndrome: A case report with literature review.Radiology case reports · 2026Article
- Severe Supravalvular Aortic Stenosis Treated With Double Patch Aortoplasty: A Case Report.Clinical case reports · 2026Article
- A Del(5PNAS nexus · 2025Article
- Persistent fifth aortic arch complicated by Williams-Beuren syndrome: a case description.Quantitative imaging in medicine and surgery · 2025Article
- Article
- Clinical Care for Cardiovascular Disease in Patients With Williams-Beuren Syndrome.Journal of the American Heart Association · 2024Review
- Management of supravalvular aortic stenosis with the Doty technique, in a South American pediatric center.Archivos de cardiologia de Mexico · 2024Article
- De Novo Elastin Assembly Alleviates Development of Supravalvular Aortic Stenosis-Brief Report.Arteriosclerosis, thrombosis, and vascular biology · 2024Article
- Fetal Diagnosis of Supravalvular Aortic Stenosis and Pulmonary Stenosis in a Family with Non-Syndromic Elastin Mutation.Pediatric cardiology · 2024Article
- Genetic Testing for Supravalvar Aortic Stenosis: What to Do When It Is Not Williams Syndrome.Journal of the American Heart Association · 2024Article
- Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome.Journal of the American Heart Association · 2024Article
- Comparison of the Accuracy in Provisional Diagnosis of 22q11.2 Deletion and Williams Syndromes by Facial Photos in Thai Population Between De-Identified Facial Program and Clinicians.The application of clinical genetics · 2024Article
- Human Genetics of Semilunar Valve and Aortic Arch Anomalies.Advances in experimental medicine and biology · 2024Review
- Intensive Care Unit Analgosedation After Cardiac Surgery in Children with Williams Syndrome : a Matched Case-Control Study.Pediatric cardiology · 2024Article
- Novel mutation in ELN gene causes cardiac abnormalities and inguinal hernia: case report.BMC pediatrics · 2023Article
- Anti-Inflammatory and Anti-Thrombogenic Properties of Arterial Elastic Laminae.Bioengineering (Basel, Switzerland) · 2023Review
- Clinical phenotypes study of 231 children with Williams syndrome in China: A single-center retrospective study.Molecular genetics & genomic medicine · 2022Article
- Role of Transthoracic Echocardiography in Early Diagnosis of Williams Syndrome in the Neonatal Period.CASE (Philadelphia, Pa.) · 2022Article
- Article
23 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Williams-Beuren syndrome (WBS) is a microdeletion disorder caused by heterozygous loss of approximately 1.5-Mb pairs of DNA from chromosome 7. Patients with WBS have a characteristic constellation of medical and cognitive findings, with a hallmark feature of generalized arteriopathy presenting as stenoses of elastic arteries and hypertension. Human and mouse studies establish that defects in the elastin gene, leading to elastin haploinsufficiency, underlie the arteriopathy. In this review we describe potential links between elastin expression and arteriopathy, possible explanations for disease variability, and current treatment options and their limitations, and we propose several new directions for the development of nonsurgical preventative therapies based on insights from elastin biology.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.