Abstract

VELEZ BOHORQUEZ, Anggi Margarita; RUIZ PATINO, Alejandro  and  OLAYA CONTRERAS, Mercedes. Multiple Congenital Anomalies in the Context of Congenital Cardiopathy with Abnormal Venous Return. Univ. Med. [online]. 2021, vol.62, n.2, e31716.  Epub May 15, 2021. ISSN 0041-9095.  https://doi.org/10.11144/javeriana.umed62-2.macc.

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. In terms of frequency, ventricular septal defect, atrial septal defect, left ventricular hypoplasia, coarctation of the aorta and transposition of the great vessels correspond to the most frequent pathologies. Of these, more than half correspond to isolated anomalies. In this present case, 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 perform 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 suspect. During his hospital stay, she died from complications of late neonatal sepsis. In the autopsy study an incomplete anomalous pulmonary return were evident, which is a rare entity, corresponding to 0.5 to 3% of congenital heart diseases, of which partial ones correspond to less than 0.7%.

Keywords : heart defects-congenital; heart septal defects; DiGeorge syndrome; autopsy.

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