A Single Misstep in Cardiac Development Explains the Co-Occurrence of Tetralogy of Fallot and Complete Atrioventricular Septal Defect in Down Syndrome

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Abstract

Tetralogy of Fallot and a complete atrioventricular septal defect are thought to arise by distinct mechanisms, yet their co-occurrence is a recognized association. Analysis of the prevalence of co-occurrence in Down syndrome suggests a common developmental basis. Trisomy 21 may perturb cardiac progenitor cells before they enter the heart tube.

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