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Archives of cardiovascular diseases
Volume 102, n° 1
pages 59-63 (janvier 2009)
Doi : 10.1016/j.acvd.2008.06.020
Received : 30 April 2008 ;  accepted : 19 June 2008
Genetics and embryological mechanisms of congenital heart diseases
Génétique et mécanismes embryologiques des cardiopathies congénitales
 

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Figure 1 : 

One heart disease–several mechanisms–several genes. A malformation may originate from different embryology mechanisms. A common arterial trunk may result from a participation defect of progenitors from the second cardiac field and/or a migration defect of the neural crest cells and/or a rotation defect of the myocardium and/or a formation abnormality of the endocardial cushions. All these mechanisms are controlled by multiple genes (Pax3 , Pitx2 , Tbx1 , Fgf8 , Bmp …). The result is a concept known as “one heart disease–several mechanisms–several genes”. In addition, impairment of these different mechanisms may generate a broad spectrum of heart diseases affecting the conotruncal region (TOF, IAA, DORV…). CAT: common arterial trunk; DORV: double outlet right ventricle; EM: epithelio-mesenchymal; IAA: interrupted aortic arch; TGA: transposition of the great arteries; TOF: tetralogy of Fallot; TOF&PA: tetralogy of Fallot with pulmonary atresia; VSD: sub-arterial ventricular septal defect.

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