• Congenital heart disease occurred In 64% of patients with the CHARGE (coloboma, heart disease, choanal atresla, 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.
Lin AE, Chin AJ, Devine W, Park SC, Zackai E. The Pattern of Cardiovascular Malformation in the CHARGE Association. Am J Dis Child. 1987;141(9):1010-1013. doi:10.1001/archpedi.1987.04460090087034