Tetralogy of Fallot

Definition:

The four classic features of tetralogy of Fallot (TOF) are ventricular septal defect, pulmonary stenosis, right ventricular hypertrophy, and overriding aorta. These cardiac abnormalities are resulted from altered neural crest migration during embryogenesis.

References:

[1]. A Tomita-Mitchell, et al. GATA4 sequence variants in patients with congenital heart disease. J Med Genet. 2007 Dec;44(12):779-83. [Content Brief]

[2]. Antonio Pizzuti, et al. Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot. Hum Mutat. 2003 Nov;22(5):372-7. [Content Brief]

[3]. D W Benson, et al. Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. J Clin Invest. 1999 Dec;104(11):1567-73. [Content Brief]

[4]. J D Karkera, et al. Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. Am J Hum Genet. 2007 Nov;81(5):987-94. [Content Brief]

[5]. 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]

[6]. Ralf Rauch, et al. Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot. J Med Genet. 2010 May;47(5):321-31. [Content Brief]

[7]. Valentina Di Felice, et al. Tetralogy of fallot as a model to study cardiac progenitor cell migration and differentiation during heart development. Trends Cardiovasc Med. 2009 May;19(4):130-5. [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]. Z A Eldadah, et al. Familial Tetralogy of Fallot caused by mutation in the jagged1 gene. Hum Mol Genet. 2001 Jan 15;10(2):163-9. [Content Brief]

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