The aim of the present study was to determine if patients with both pulmonary arterial hypertension (PAH), due to pulmonary vascular obstructive disease, and congenital heart defects (CHD), have mutations in the gene encoding bone morphogenetic protein receptor (BMPR)-2. The BMPR2 gene was screened in two cohorts: 40 adults and 66 children with PAH/CHD. CHDs were patent ductus arteriosus, atria...

The importance of identifying this anomaly is that it is associated with other congenital malformations in over 20% of cases, most commonly being associated with cardiovascular anomalies and congenital dislocation of hip. Of the 44 infants with this syndrome, Pape and Pickering found 27 to have major anomaly of skeletal, genitourinary, respiratory and cardiovascular systems. The disorder most c...

The authors report a case of double-orifice mitral valve (DOMV) which showed mitral stenosis and mild insufficiency. An associated anomaly was secundum atrial septal defect. DOMV is an unusual congenital heart defect. The occurrence of this anomaly with or without secundum atrial septal defect is very rare. More often it is associated with other congenital malformations arising from atrioventri...

INTRODUCTION Aortopulmonary window (APW), a large aortopulmonary septal defect (APSD), is a serious and rare defect within congenital heart diseases. CASE REPORT In this study, we reported an APW case with severe pulmonary arterial hypertension. This patient was successfully treated by transcatheter closure with a muscular ventricular septal defect (VSD) occluder. CONCLUSION We had a succes...

A pair of monozygotic twin girls is reported with concordance for 3 congenital cardiac abnormalities: (1) secundum atrial septal defect, (2) aneurysm of the membraneous ventricular septum, and (3) electrocardiographic frontal plane left axis deviation. A review of the published materials shows a 9.5 per cent incidence of concordance for congenital heart disease among monozygotic twins. In those...

Ectopia cordis is a rare congenital malformation in which the heart is located partially or totally outside the thoracic cavity. The estimated prevalence of ectopia cordis is 5.5-7.9 per million births and it comprises 0.1% of congenital heart diseases. Ectopia cordis is associated with other congenital heart diseases and various tissue and organ disorders. Common cardiac anomalies associated w...

background: we sought to assess right ventricular (rv) systolic and diastolic functions via tissue doppler imaging (tdi) in order to discriminate right-to-left (bidirectional) from left-to-right intracardiac shunts. methods: a tissue doppler velocity study via doppler echocardiography was performed in 20 patients with left-to-right shunt (without evidence of significant pulmonary hypertension) ...

left ventricular non-compaction cardiomyopathy is a rare congenital cardiomyopathy that affects both children and adults. since the clinical manifestations are not sufficient to establish diagnosis, echocardiography is the diagnostic tool that makes it possible to document ventricular non-compaction and establish prognostic factors. we report a 47-year-old woman with a history of dilated cardio...

background: chylothorax is a rare but serious postoperative condition with a high rate of morbidity and may lead to the mortality of children undergoing congenital heart disease (chd) surgery. this study evaluated the specific surgical procedures associated with the higher risk of postoperative chylothorax. methods: w e assessed 435 cases undergoing chd surgery between april 2003 and may 2006. ...

conclusions children with chd are at risk of severe complications with the involvement of other organs. long-term febrile illness should be taken seriously in these children. they need hospitalization and careful evaluation. case presentation a 6-year-old girl with a ventricular septal defect (vsd) was presented. echocardiography revealed large vegetation in the right ventricular outflow tract ...