The pattern of cardiovascular malformation in the CHARGE association.
Congenital heart disease occurred in 64% of patients with the CHARGE (coloboma, heart disease, choanal atresia, retardation of postnatal growth and mental development, genitalia hypoplasia, and ear anomalies) association (55% of 67 previously described patients and 100% of 16 new patients). Of those with congenital heart disease, 42% had conotruncal anomalies (tetralogy of Fallot, double-outlet right ventricle, truncus arteriosus), and 36% had aortic arch anomalies (vascular ring, aberrant subclavian artery, interrupted aortic arch). This striking pattern of cardiovascular malformations is similar to that found in the DiGeorge sequence.
D000015:Abnormalities, Multiple; D002754:Choanal Atresia / Q000150:complications; D003103:Coloboma / Q000150:complications; D002658:Developmental Disabilities / Q000150:complications; D004423:Ear / Q000002:abnormalities; D005260:Female; D005835:Genitalia / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000453:epidemiology / Q000473:pathology*; D006331:Heart Diseases / Q000150:complications; D006801:Humans; D008297:Male