| H00553 | |
| H number | H00553 |
| Name | Congenital supravalvular aortic stenosis |
| Description | Congenital supravalvular aortic stenosis is a rare stenotic lesion of the left ventricular out flow tract. The malformation consists a supravalvar narrowing at the aortic sinotubular junction. The underlying cause of the disease is a loss-of function mutation of the elastin gene. |
| Category | Congenital malformation |
| Network | - |
| Gene | ELN [HSA:2006] [KO:K14211] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LA8A.3 ICD-10: Q25.3 OMIM: 185500 |
| Reference | PMID:19022009 AUTHORS Hickey EJ, Jung G, Williams WG, Manlhiot C, Van Arsdell GS, Caldarone CA, Coles J, McCrindle BW TITLE Congenital supravalvular aortic stenosis: defining surgical and nonsurgical outcomes. JOURNAL Ann Thorac Surg 86:1919-27; discussion 1927 (2008) DOI:10.1016/j.athoracsur.2008.08.031 PMID:11167112 AUTHORS Stamm C, Friehs I, Ho SY, Moran AM, Jonas RA, del Nido PJ TITLE Congenital supravalvar aortic stenosis: a simple lesion? JOURNAL Eur J Cardiothorac Surg 19:195-202 (2001) DOI:10.1016/s1010-7940(00)00647-3 |