Velocardiofacial syndrome with complex congenital heart disease

Velocardiofacial syndrome, or DiGeorge syndrome, is characterized by an association of congenital heart defects, facial anomalies, thymus hypoplasia, hypocalcaemia, and cleft palate. The most prevalent cardiac anomalies in this association are tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle, and truncus arteriosus.

The aim of this paper is to report a case of velocardiofacial syndrome associated with complex heart disease (pulmonary atresia with ventricular septal defect) and demonstrate the importance of the suspicion of this genetic syndrome when facial anomalies are present in the physical examination.

This is the case of a full-term newborn who presented central cyanosis with 74% oxygen saturation and heart murmur at 21 hours of life. A cyanogenic heart disease (pulmonary atresia with ventricular septal defect) was identified on performing cardiological evaluation. At follow-up, this genetic syndrome was suspected due to the presence of hypertelorism, thin lips, and prominent forehead. Consequently, the diagnosis was confirmed by fluorescence in-situ hybridization.

DiGeorge syndrome may be associated with heart diseases; of which, the cyanogenic group of heart diseases is more prevalent. Their identification is essential, and it may have a negative impact on the evolution of the case.