eISSN: 2449-6731
ISSN: 2449-6723
Prenatal Cardiology
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Artykuł Video: Velocardiofacial syndrome with complex congenital heart disease
Case report

Velocardiofacial syndrome with complex congenital heart disease

Nathalie J. M. Bravo-Valenzuela
Eliane Lucas
2, 3
Flávia A. Almeida
Ricardo P. Fraga
Danilo B. de Oliveira
Felipe C. Barbosa

  1. Department of Paediatrics, Federal University of Rio de Janeiro, Brazil
  2. Department of Paediatrics, Central Military Hospital, Brazilian Army (Hospital Central do Exército), Brazil
  3. Department of Paediatrics, Faculty of Medicine of Teresópolis, Brazil
  4. Department of Paediatrics, Professional Update Program for Military Health Corps (PROCAP/Sau), Brazil
Prenat Cardio 2021; 11(1): 55–58
Online publish date: 2021/12/30
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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.

velocardiofacial syndrome, congenital heart diseases, hypoxaemia

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