Atrial septal defect

Definition:

Atrial septal defect is an abnormal hole in the interatrial septum between right and left atria. Atrial septal defect is one of the most frequent types of malformations in congenital heart defect that arise from perturbations of cardiac development during embryogenesis. Multiple transcriptions factors that regulate cardiac development as well as various chemicals and maternal diseases have been implicated in the disease.

References:

[1]. Edwin P Kirk, et al. Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy. Am J Hum Genet. 2007 Aug;81(2):280-91. [Content Brief]

[2]. Hans Matsson, et al. Alpha-cardiac actin mutations produce atrial septal defects. Hum Mol Genet. 2008 Jan 15;17(2):256-65. [Content Brief]

[3]. J J Schott, et al. Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science. 1998 Jul 3;281(5373):108-11. [Content Brief]

[4]. Maximilian G Posch, et al. Molecular genetics of congenital atrial septal defects. Clin Res Cardiol. 2010 Mar;99(3):137-47. [Content Brief]

[5]. Paweł Stańczak, et al. Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD. Eur J Hum Genet. 2009 Mar;17(3):344-51. [Content Brief]

[6]. Silke Sperling, et al. Identification and functional analysis of CITED2 mutations in patients with congenital heart defects. Hum Mutat. 2005 Dec;26(6):575-82. [Content Brief]

[7]. Vidu Garg, et al. GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature. 2003 Jul 24;424(6947):443-7. [Content Brief]

[8]. Xiaoping Lin, et al. A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect. J Hum Genet. 2010 Oct;55(10):662-7. [Content Brief]

[9]. Yung-Hao Ching, et al. Mutation in myosin heavy chain 6 causes atrial septal defect. Nat Genet. 2005 Apr;37(4):423-8. [Content Brief]

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