H00547 | |
H number | H00547 |
Name | Atrioventricular septal defect; Atrioventricular canal defect |
Description | 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). |
Category | Congenital malformation |
Network | - |
Gene | (AVSD2) CRELD1 [HSA:78987] [KO:K24335] (AVSD3) GJA1 [HSA:2697] [KO:K07372] (AVSD4) GATA4 [HSA:2626] [KO:K09183] (AVSD5) GATA6 [HSA:2627] [KO:K17897] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LA87.20 ICD-10: Q21.2 OMIM: 606217 600309 614430 614474 |
Reference | PMID:15096951 AUTHORS Maslen CL TITLE Molecular genetics of atrioventricular septal defects. JOURNAL Curr Opin Cardiol 19:205-10 (2004) DOI:10.1097/00001573-200405000-00003 PMID:11376442 AUTHORS Vaughan CJ, Basson CT TITLE Molecular determinants of atrial and ventricular septal defects and patent ductus arteriosus. JOURNAL 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 AUTHORS Jenkins KJ, Correa A, Feinstein JA, Botto L, Britt AE, Daniels SR, Elixson M, Warnes CA, Webb CL TITLE 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. JOURNAL Circulation 115:2995-3014 (2007) DOI:10.1161/CIRCULATIONAHA.106.183216 PMID:12632326 (CRELD1) AUTHORS Robinson SW, Morris CD, Goldmuntz E, Reller MD, Jones MA, Steiner RD, Maslen CL TITLE Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects. JOURNAL Am J Hum Genet 72:1047-52 (2003) DOI:10.1086/374319 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:17643447 (GATA4) AUTHORS 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 TITLE Spectrum of heart disease associated with murine and human GATA4 mutation. JOURNAL J Mol Cell Cardiol 43:677-85 (2007) DOI:10.1016/j.yjmcc.2007.06.004 PMID:20581743 (GATA6) AUTHORS Maitra M, Koenig SN, Srivastava D, Garg V TITLE Identification of GATA6 sequence variants in patients with congenital heart defects. JOURNAL Pediatr Res 68:281-5 (2010) DOI:10.1203/00006450-201011001-00549 |