title: DiGeorge syndrome presenting as severe congenital heart disease in the newborn.
abstract: In seven infants with DiGeorge syndrome the major clinical manifestation was cardiac failure in the 1st week of life. All had severe congenital heart disease: five had interruption of the aortic arch and associated lesions, one had a ventricular septal defect and a cervical aorta, and one had truncus arteriosus. All but one died by 2 weeks of age. Necropsy data lent support to the hypothesis of a relation between the cardiovascular anomalies and defective development of structures derived from the third and fourth pharyngeal pouches.
mesh_terms: D001013:Aorta, Thoracic / Q000473:pathology; D004062:DiGeorge Syndrome / Q000175:diagnosis* / Q000473:pathology; D004562:Electrocardiography; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000473:pathology; D006333:Heart Failure / Q000175:diagnosis; D006801:Humans; D006996:Hypocalcemia / Q000175:diagnosis; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis*; D007231:Infant, Newborn; D008297:Male; D009206:Myocardium / Q000473:pathology; D010280:Parathyroid Glands / Q000473:pathology; D013950:Thymus Gland / Q000473:pathology