| H01272 | |
| H number | H01272 |
| Name | Hypoplastic left heart syndrome |
| Description | Hypoplastic left heart syndrome (HLHS) is a severe, uniformly fatal congenital heart defect typically characterized by hypoplasia of the left ventricular chamber and aorta in association with stenosis and/or atresia of the mitral and aortic valves. There is now strong evidence implicating multiple genetic loci for HLHS. Potential mutations in at least 4 genes, GJA1, NKX2-5, NOTCH1, and HAND1, have been associated with HLHS. |
| Category | Congenital malformation |
| Network | - |
| Gene | GJA1 [HSA:2697] [KO:K07372] NKX2-5 [HSA:1482] [KO:K09345] HAND1 [HSA:9421] [KO:K09071] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | Defects in NOTCH1 are a cause of bicuspid aortic valve. [DS:H00554] |
| Other DBs | ICD-11: LA89.3 ICD-10: Q23.4 MeSH: D018636 OMIM: 241550 614435 |
| Reference | PMID:19298922 AUTHORS Grossfeld P, Ye M, Harvey R TITLE Hypoplastic left heart syndrome: new genetic insights. JOURNAL J Am Coll Cardiol 53:1072-4 (2009) DOI:10.1016/j.jacc.2008.12.024 PMID:11470490 (GJA1) AUTHORS Dasgupta C, Martinez AM, Zuppan CW, Shah MM, Bailey LL, Fletcher WH TITLE Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE). JOURNAL Mutat Res 479:173-86 (2001) DOI:10.1016/S0027-5107(01)00160-9 PMID:12798584 (NKX2-5) AUTHORS Elliott DA, Kirk EP, Yeoh T, Chandar S, McKenzie F, Taylor P, Grossfeld P, Fatkin D, Jones O, Hayes P, Feneley M, Harvey RP TITLE Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome. JOURNAL J Am Coll Cardiol 41:2072-6 (2003) DOI:10.1016/S0735-1097(03)00420-0 PMID:18276607 (HAND1) AUTHORS Reamon-Buettner SM, Ciribilli Y, Inga A, Borlak J TITLE A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts. JOURNAL Hum Mol Genet 17:1397-405 (2008) DOI:10.1093/hmg/ddn027 |