| H00547 | |
| H番号 | H00547 |
| 名称 | 房室中隔欠損; 房室管型欠損 |
| 概要 | Atrioventricular septal defect, also known as atrioventricular canal defect or endocardial cushion defect, is a congenital heart malformation involving the interatrial septum, interventricular septum, and atrioventricular valves. The defect is often associated with Down syndrome (trisomy 21). |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (AVSD2) CRELD1 [HSA:78987] [KO:K24335] (AVSD3) GJA1 [HSA:2697] [KO:K07372] (AVSD4) GATA4 [HSA:2626] [KO:K09183] (AVSD5) GATA6 [HSA:2627] [KO:K17897] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LA87.20 ICD-10: Q21.2 OMIM: 606217 600309 614430 614474 |
| 文献 | PMID:15096951 著者 Maslen CL タイトル Molecular genetics of atrioventricular septal defects. 雑誌 Curr Opin Cardiol 19:205-10 (2004) DOI:10.1097/00001573-200405000-00003 PMID:11376442 著者 Vaughan CJ, Basson CT タイトル Molecular determinants of atrial and ventricular septal defects and patent ductus arteriosus. 雑誌 Am J Med Genet 97:304-9 (2000) DOI:10.1002/1096-8628(200024)97:4<304::AID-AJMG1281>3.0.CO;2-# PMID:17519397 著者 Jenkins KJ, Correa A, Feinstein JA, Botto L, Britt AE, Daniels SR, Elixson M, Warnes CA, Webb CL タイトル Noninherited risk factors and congenital cardiovascular defects: current knowledge: a scientific statement from the American Heart Association Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics. 雑誌 Circulation 115:2995-3014 (2007) DOI:10.1161/CIRCULATIONAHA.106.183216 PMID:12632326 (CRELD1) 著者 Robinson SW, Morris CD, Goldmuntz E, Reller MD, Jones MA, Steiner RD, Maslen CL タイトル Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects. 雑誌 Am J Hum Genet 72:1047-52 (2003) DOI:10.1086/374319 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:17643447 (GATA4) 著者 Rajagopal SK, Ma Q, Obler D, Shen J, Manichaikul A, Tomita-Mitchell A, Boardman K, Briggs C, Garg V, Srivastava D, Goldmuntz E, Broman KW, Benson DW, Smoot LB, Pu WT タイトル Spectrum of heart disease associated with murine and human GATA4 mutation. 雑誌 J Mol Cell Cardiol 43:677-85 (2007) DOI:10.1016/j.yjmcc.2007.06.004 PMID:20581743 (GATA6) 著者 Maitra M, Koenig SN, Srivastava D, Garg V タイトル Identification of GATA6 sequence variants in patients with congenital heart defects. 雑誌 Pediatr Res 68:281-5 (2010) DOI:10.1203/00006450-201011001-00549 |