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Supravalvar aortic stenosis

disorder
SNOMED 268185002CUI C0003499

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Research Evidence

Peer-reviewed studies linked via MeSH term "Aortic Stenosis, Supravalvular" from the MEDLINE/PubMed database.

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Long-term surgical outcomes of congenital supravalvular aortic stenosis: a systematic review, meta-analysis and microsimulation study.
[object Object], [object Object], [object Object] et al. · Eur J Cardiothorac Surg · 2024
PMID: 37889257Meta-AnalysisFull text (PMC)
Aortic stenosis in homozygous familial hypercholesterolaemia: a paradigm shift over a century.
[object Object], [object Object], [object Object] et al. · Eur Heart J · 2022
PMID: 35776569Meta-Analysis
An infant with suspected missed diagnosis of Williams syndrome failed weaning off CPB after surgical correction of pulmonary stenosis: a case report and literature review.
[object Object], [object Object] · Perfusion · 2023
PMID: 34538195Review
Williams Syndrome: Supravalvar Aortic, Aortic Arch, Coronary and Pulmonary Arteries: Is Comprehensive Repair Advisable and Achievable?
[object Object], [object Object], [object Object] et al. · Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu · 2023
PMID: 36842795Review
Emerging mechanisms of elastin transcriptional regulation.
[object Object], [object Object] · Am J Physiol Cell Physiol · 2022
PMID: 35816641ReviewFull text (PMC)
Anesthetic Considerations for Patients With Williams Syndrome.
[object Object], [object Object] · J Cardiothorac Vasc Anesth · 2021
PMID: 32127269Review
Atrial septal defects, supravalvular aortic stenosis and syndromes predisposing to aneurysm of large vessels.
[object Object], [object Object], [object Object] et al. · Acta Biomed · 2019
PMID: 31577255ReviewFull text (PMC)
Elastin-driven genetic diseases.
[object Object], [object Object] · Matrix Biol · 2018
PMID: 29501665ReviewFull text (PMC)
Cardiovascular disease in Williams syndrome.
[object Object] · Curr Opin Pediatr · 2018
PMID: 30045083Review
Assessment of the structure and function of the aorta by echocardiography.
[object Object], [object Object] · Cardiol Young · 2016
PMID: 28148315Review
Search all PubMed articles for Supravalvar aortic stenosis

Research data from MEDLINE/PubMed

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Cardiac arrhythmias
Very frequent (80-99%)HP:0011675
Supravalvular aortic stenosis
Very frequent (80-99%)HP:0004381
Angina pectoris
Frequent (30-79%)HP:0001681
Difficulty breathing
Frequent (30-79%)HP:0002094
Syncope
Frequent (30-79%)HP:0001279
Systolic heart murmur
Frequent (30-79%)HP:0031664
High blood pressure
Occasional (5-29%)HP:0000822
Arterial disease of legs
HP:0004950
Pulmonary artery stenosis
HP:0004415
Pulmonary stenosis
HP:0001642

Related Conditions

Hour glass aortic stenosis(child)
Diffuse supravalvar aortic stenosis(child)
Shelf-like supravalvar aortic stenosis(child)
Congenital supravalvular aortic stenosis(child)
Acquired stenosis of supravalvar area(child)
Ascending aorta abnormality(parent)
Stenosis of thoracic aorta(parent)

Quick Facts

SNOMED CT
268185002
UMLS CUI
C0003499
Fully Specified Name
Supravalvar aortic stenosis (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
10
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.