Multiple Congenital Anomalies in the Context of CongenitalCardiopathy with Abnormal Venous Return

Abstract

Congenital heart diseases are alterations in the shape and function of the heart and correspond to the second most common congenital anomaly in the world. In Colombia, there is a prevalence of 15.7 per 10,000 newborns, with male predominance with an estimated mortality of 2.7% in the prenatal period and 2.5% during the first year of life. We report a female newborn, with no significant prenatal history, with an only finding on screening ultrasound compatible with a single umbilical artery, who, due to an unsatisfactory fetal state at 39 weeks, was born by cesarean section. Given neonatal maladaptation and associated hypoxia, extension studies were performed showing abnormal pulmonary return, initially suspected as a single and isolated finding. Additional clinical examination revealed hypoplasia of the mastication muscles, suggestive of an alteration in the embryogenesis of the first pharyngeal arch. Reclassifying this abnormality as syndromic, a 22q11.2 deletion disorder was suspected. During his hospital stay, she died from complications of late neonatal sepsis. In the autopsy study an incomplete anomalous pulmonary return is evidenced, which is a fairly rare entity, corresponding to 0.5 to 3% of congenital heart diseases, of which partial ones correspond to less than 0.7%.