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The DiGeorge syndrome and the heart

Migration of cells from the embryonic neural crest are a central feature in the development of the cardiac outflow tracts, aortic arch arteries, thymus, and parathyroid glands. Neural crest ablation in chick embryos has produced cardiac malformations and other defects of DiGeorge anomaly. Microcinephotography of such embryos shows early functional changes in the developing abnormal heart. The DiGeorge malformation pattern has been found in a variety of conditions including the velocardiofacial syndrome, teratogenic embryopathy, and chromosomal syndromes. Genetic studies have focused on deletions of the long arm of chromosome 22.