Abstract
Introduction: The features of an 8p23 deletion are likely to be a result of the loss of a number of different genes found in this region. The variable clinical features could be explained by the extent of the deletion or variation in the breakpoints.Case report: A pregnant patient was referred for fetal echocardiography at 23 weeks gestation, because of fetal bradyarrhythmia, which showed a large foramen oval and mild pulmonary stenosis. A fetal male was born at 40 weeks, with a birth weight below the 10th centile. Postnatal echocardiography revealed: perimembranous ventricular septal defect, atrial septal defect and mild pulmonary valvar stenosis. During follow-up, dysmorphic features, development delay and behavioural issues were noticed. Cytogenetic and molecular cytogenetic analysis were performed. Parental chromosomes were normal, so the child’s final karyotype was defined as 46,XY,del(8)(p23.1p23.2)dn.Conclusion: Congenital heart defects are related with haploinsuficiency of gene GATA4. The deletion of this critical region is associated with mild mental retardation, behavioral problems and mild facial dysmorphy.
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