Pulmonary atresia with hypoplastic right ventricle - A clinical embryological study

An unusual case of pulmonary atresia with an aberrant karyotype of 46,XX,t( 6;8)(p21.2;q11.2) is reported. Fetal ultrasonic examination at the 20th wee k of gestation revealed a hypoplastic right ventricle and an intact interve ntricular septum. Authors summarize their postnatal findings in fetal heart and the large adjacent vessels with special reference to the pathogenesis of this rare congenital heart defect. The observation delineates right-vent ricular outflow tract obstruction associated with an abnormal pulmonary blo od supply. The anatomy of the systemic pulmonary collaterals was studied an d correlated with multifocal disorders in the system of the pharyngeal arch arteries in the early embryonic development. Copyright (C) 2001 S. Karger AG, Basel.