Atrioventricular septal defect

Definition:

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).

References:

[1]. C Dasgupta, et al. Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE). Mutat Res. 2001 Aug 8;479(1-2):173-86. [Content Brief]

[2]. Cheryl L Maslen, et al. Molecular genetics of atrioventricular septal defects. Curr Opin Cardiol. 2004 May;19(3):205-10. [Content Brief]

[3]. Kathy J Jenkins, et al. 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. Circulation. 2007 Jun 12;115(23):2995-3014. [Content Brief]

[4]. Satish K Rajagopal, et al. Spectrum of heart disease associated with murine and human GATA4 mutation. J Mol Cell Cardiol. 2007 Dec;43(6):677-85. [Content Brief]

[5]. Susan W Robinson, et al. Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects. Am J Hum Genet. 2003 Apr;72(4):1047-52. [Content Brief]

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