Because the causes of conotruncal cardiac defects are poorly understood, a case-control study was conducted to investigate maternal risk factors for conotruncal cardiac defects. Eligible cases included all infants who were born from 1976 through 1980 to residents of the five county metropolitan Atlanta area and diagnosed with truncus arteriosus, transposition of the great arteries or tetralogy ...

Complete DiGeorge syndrome (CDGS) has a severe T-cell immunodeficiency and is fatal without thymus or bone marrow transplantation. Associated congenital heart disease (CHD) further complicates the clinical management. We report an infant with tetralogy of Fallot, confluent and hypoplastic pulmonary arteries, right aortic arch, and aberrant left subclavian artery. He was athymic with no CD3+ T c...

CATCH 22 syndrome is characterized by cardiac defects, abnormal facial features, thymic hypoplasia, cleft palate, and hypocalcemia. It is associated with a deletion within chromosome 22q11. This syndrome is not a simple disease. It includes DiGeorge syndrome, conotruncal anomaly face syndrome, and velocardiofacial syndrome. In DiGeorge’s original report, he focused on thymic hypoplasia and hypo...

BACKGROUND We report an unusual type of residual interventricular communication in patients with conotruncal malformations in which the aorta is completely or partly aligned with the right ventricle (RV). Interventricular communications after surgical repair usually result from additional defects, patch dehiscence, or incomplete closure and lie in the septal plane. However, after a right ventri...

using criteria put forth by Verloes [1], patients with CHARGE syndrome show varying phenotypes that considerably overlap those of other syndromes such as Kallmann syndrome, VACTERL association (vertebral anomalies, anal atresia, cardiac defects, tracheoesophageal fistula, esophageal atresia, renal anomalies, and limb defects), and 22q11.2 deletion syndrome [3,6,7]. Chromosome 22q11.2 deletion i...