T HE CLOSE anatomic relationship of the conduction system of the heart to most ventricular septal defects'-5 makes the occurrence of complete heart block a potential risk in the repair of these lesions. In our experience , when complete heart block has developed , it has often proved to be a serious complication. Although reversion to sinus rhythm occurs in the early postoperative period in man...

BACKGROUND The 22q11.2 microdeletion syndrome (22q11.2 deletion syndrome -22q11.2DS) refers to congenital abnormalities, including primarily heart defects and facial dysmorphy, thymic hypoplasia, cleft palate and hypocalcaemia. Microdeletion within chromosomal region 22q11.2 constitutes the molecular basis of this syndrome. The 22q11.2 microdeletion syndrome occurs in 1/4000 births. The aim of ...

great majority of our patients presented the same 419delG mutation that also produce a truncate protein, and may be comparable with the above defect. Lack of heart defects in the majority of our patients lessens the likelihood of the podocin protein defect being associated with cardiac defects. We suggest re-evaluation of the association, because it cannot be excluded that in the Frishberg stud...

BACKGROUND Atrial septal defect often become more severe when encountered in genetic syndromes. Congenital disorder of glycosylation type 1a is an inherited metabolic disorder associated with mutations in PMM2 gene and can affect almost all organs. Cardiac abnormalities vary greatly in congenital disorder of glycosylation type 1a and congenital heart defects have already been reported, but ther...

CONTEXT AND OBJECTIVE Down syndrome is the most common genetic disorder, affecting 1/700 live births. Among the clinical findings, one constant concern is the high prevalence of congenital heart disease. The objective of this study was to determine the prevalence and profile of congenital heart disease among patients attended at a Down syndrome outpatient clinic in southern Brazil between 2005 ...

Linda Luna was five months pregnant with her first child when she got the bad news: Ultrasound scans showed a deadly defect in her baby boy’s heart. He had a 90 percent chance of dying before or just after birth. But thanks to groundbreaking treatment at Lucile Packard Children’s Hospital Stanford, baby Liam, who went home to San Jose in January, is beating those odds. Now 3 months old, he is t...

INTRODUCTION Complete endocardial cushion defect is a congenital heart disease characterized by a variable deficiency of the atrioventricular area in the developing heart. The mortality rate for an unrepaired endocardial cushion defect in pregnancy and the postpartum period is high. CASE PRESENTATION We present a rare case of a pregnant woman with complete endocardial cushion defect. A 20-yea...

Among heart irregularities, congenital pericardial defect is an unusual anomaly, and is typically left dominant. However, cases of right pericardial defect with heart herniation are extremely rare. This is a case of congenital right pericardial defect with herniation of the right ventricle free wall and right ventricular outflow tract. The patient is asymptomatic and refused further interventio...

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...