| H01272 | |
| H番号 | H01272 |
| 名称 | 左心低形成症候群 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | GJA1 [HSA:2697] [KO:K07372] NKX2-5 [HSA:1482] [KO:K09345] HAND1 [HSA:9421] [KO:K09071] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | Defects in NOTCH1 are a cause of bicuspid aortic valve. [DS:H00554] |
| リンク | ICD-11: LA89.3 ICD-10: Q23.4 MeSH: D018636 OMIM: 241550 614435 |
| 文献 | PMID:19298922 著者 Grossfeld P, Ye M, Harvey R タイトル Hypoplastic left heart syndrome: new genetic insights. 雑誌 J Am Coll Cardiol 53:1072-4 (2009) DOI:10.1016/j.jacc.2008.12.024 PMID:11470490 (GJA1) 著者 Dasgupta C, Martinez AM, Zuppan CW, Shah MM, Bailey LL, Fletcher WH タイトル Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE). 雑誌 Mutat Res 479:173-86 (2001) DOI:10.1016/S0027-5107(01)00160-9 PMID:12798584 (NKX2-5) 著者 Elliott DA, Kirk EP, Yeoh T, Chandar S, McKenzie F, Taylor P, Grossfeld P, Fatkin D, Jones O, Hayes P, Feneley M, Harvey RP タイトル Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome. 雑誌 J Am Coll Cardiol 41:2072-6 (2003) DOI:10.1016/S0735-1097(03)00420-0 PMID:18276607 (HAND1) 著者 Reamon-Buettner SM, Ciribilli Y, Inga A, Borlak J タイトル A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts. 雑誌 Hum Mol Genet 17:1397-405 (2008) DOI:10.1093/hmg/ddn027 |