loading...| Preferred Name |
Supravalvular aortic stenosis |
| ID |
http://www.orpha.net/ORDO/Orphanet_3193 |
| alternative_term |
SVAS |
| definition |
A rare aortic malformation characterized by the narrowing of the aorta lumen (close to its origin) associated or not with stenosis of other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (left ventricle in case of aorta involvement, right ventricle in case of pulmonary artery involvement). |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3193 |
| has_age_of_onset |
All ages |
| has_inheritance |
Autosomal dominant |
| hasDbXref |
OMIM:185500 MedDRA:10042598 UMLS:C0003499 ICD-10:Q25.3 MeSH:D021921 ICD-11:LA8A.3 |
| label |
Supravalvular aortic stenosis |
| notation |
ORPHA:3193 |
| part_of | |
| prefixIRI |
ORDO:Orphanet_3193 |
| prefLabel |
Supravalvular aortic stenosis |
| present_in |
Europe AND has_birth_prevalence_average_value : 4.0 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 13.3 AND has_point_prevalence_range : 1-5 / 10 000 |
| treeView | |
| subClassOf |