OBJECTIVE To determine the prevalence of congenital heart defects in patients with Down syndrome in the municipality of Pelotas, Brazil, describing the most frequent types and assessing the associated factors. METHODS Cross-sectional study including children with Down syndrome who were born and lived in Pelotas from January 2000 to December 2005. Data were collected by means of home interview...

Background: Few cases of persistent hyperinsulinemic hypoglycemia of infancy (PHHI) have been reported, so far. The main concern in the management of PHHI is to prevent severe hypoglycemia, which can lead to coma, brain damage and mental retardation. Total or subtotal pancreatectomy is normally required for the infants, despite the availability of medical therapies. Case report: In this report...

The occurrence of various congenital anomalies, including heart defects, in children whose mothers had suffered from rubella during pregnancy was originally described by Gregg (1941) in Australia and these observations have been confirmed by many other workers. There is, however, surprisingly little detailed information available about the particular types of congenital heart defect that may oc...

Afibrinogenemia or hypofibrinogenemia is a quantitative defect in fibrinogen. It is a rare disease with estimated frequency of 1 in 1,000,000 population. Routine preoperative screening tests of coagulation disorders are insufficient to detect subtle disorders of fibrinogen. Herein, we report a child who was supposed to undergo open cardiac surgery for a large atrial septal defect. Preoperative ...

Thank you for your Letter to the Editor [1] regarding our report ‘Tricuspid valve repair in a case with congenital absence of left thoracic pericardium’. We appreciate your comments and agree that congenital elements in partial and complete absence of pericardum must be considered. Associated anomalies including mitral stenosis, atrial septal defect, patent ductus arteriosus and tetralogy of Fa...

Holt-Oram syndrome is an autosomal dominant disorder, characterised by skeletal abnormalities of the upper limb associated with congenital heart defect, mainly atrial and ventricular septal defects. Skeletal defects exclusively affect the upper limbs in the preaxial radial ray distribution and are bilateral and asymmetrical. They range from clinodactyly, absent or digitalised thumb, hypoplastic...