DiGeorge syndrome presenting as severe congenital heart disease in the newborn.
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.
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