loading...| Preferred Name | Congenital aortic valve stenosis | |
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| Definitions |
A rare aortic malformation of variable severity and clinical presentation. Clinical presentations range from a neonatal severe presentation often associated with sudden cardiac death, to a slowly progressive stenosis that presents later with cardiac murmur, chest pain, dizziness, and loss of consciousness with exercise-induced exacerbations. Echocardiography reveals atresia or dysplasia of the aortic valve most commonly associated with a bicuspid morphology, restricted left ventricular outflow, and left ventricular hypertrophy. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_3093 |
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| definition |
A rare aortic malformation of variable severity and clinical presentation. Clinical presentations range from a neonatal severe presentation often associated with sudden cardiac death, to a slowly progressive stenosis that presents later with cardiac murmur, chest pain, dizziness, and loss of consciousness with exercise-induced exacerbations. Echocardiography reveals atresia or dysplasia of the aortic valve most commonly associated with a bicuspid morphology, restricted left ventricular outflow, and left ventricular hypertrophy. |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3093 |
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MedDRA:10010371 ICD-11:LA8A.20 ICD-10:Q23.0 UMLS:C0152417 |
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| label |
Congenital aortic valve stenosis |
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| notation |
ORPHA:3093 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_3093 |
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| prefLabel |
Congenital aortic valve stenosis |
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