A single misstep in cardiac development explains the co-occurrence of tetralogy of fallot and complete atrioventricular septal defect in Down syndrome.
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.
Department of Pediatrics, Washington University School of Medicine, St. Louis, MO.
Hoang H
HH
Nguyen
Department of Pediatrics, Washington University School of Medicine, St. Louis, MO; Department of Genetics, Washington University School of Medicine, St. Louis, MO. Electronic address: jay_p@kids.wustl.edu.
Patrick Y
PY
Jay
D002675:Child, Preschool; D004314:Down Syndrome / Q000150:complications* / Q000503:physiopathology; D006343:Heart Septal Defects; D006801:Humans; D007223:Infant; D008944:Mitral Valve Insufficiency / Q000150:complications* / Q000453:epidemiology / Q000503:physiopathology; D013771:Tetralogy of Fallot / Q000150:complications* / Q000453:epidemiology / Q000503:physiopathology