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  • Title: A single misstep in cardiac development explains the co-occurrence of tetralogy of fallot and complete atrioventricular septal defect in Down syndrome.
    Author: Nguyen HH, Jay PY.
    Journal: J Pediatr; 2014 Jul; 165(1):194-6. PubMed ID: 24721467.
    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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