eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | williams syndrome |
| Comorbidity | C0003507|aortic stenosis |
| Sentences | 7 |
| PubMedID- 23394113 | We report a rare case of williams syndrome associated with supravalvular aortic stenosis, subvalvular aortic membrane, mitral regurgitation, aortic coarctation, and patent ductus arteriosus. |
| PubMedID- 25428557 | Included in the duplicated region is elastin (eln), implicated as the cause of supravalvar aortic stenosis in patients with williams-beuren syndrome. |
| PubMedID- 21080980 | Supravalvular aortic stenosis is associated with the williams-beuren syndrome, but it also occurs in a non-syndromatic congenital form. |
| PubMedID- 24741444 | Supravalvar aortic stenosis (svas) in patients with williams' syndrome is often accompanied by coronary, pulmonary, and even myocardial lesions and therefore associated with increased perioperative morbidity and mortality. |
| PubMedID- 20941567 | This technique of using a large patch has proven to be safe for williams syndrome patients with diffuse supravalvular aortic stenosis in the long term. |
| PubMedID- 23604363 | Case report: a 3-year-old boy with williams syndrome associated with supravalvular aortic stenosis was admitted to our hospital with disturbance of consciousness and a 2-month history of truncal ataxia. |
| PubMedID- 25661907 | Surgical repair of supravalvular aortic stenosis in children with williams syndrome: a 30-year experience. |
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