Double outlet right ventricle and aortopulmonary window in a patient with Cornelia de Lange syndrome: a novel association.

We report a patient with Cornelia de Lange syndrome with congenital cardiac malformation; double outlet right ventricle and aortopulmonary window. This is the first report describing this combination of findings for Cornelia de Lange syndrome. Behalf of this report, the pathogenesis of congenital heart disease in Cornelia de Lange syndrome was also revisited.