Background Ebstein’s anomaly is a rare congenital heart disorder (1 per 200,000 live births), accounting for about 0.3 to 0.7% of all cases of congenital heart disease. The condition is characterized by tricuspid valve abnormality with apical displacement of the septal and posterior leaflets from the atrioventricular annulus into the right ventricle, leading to the ‘atrialization’ of a portion ...

backgroundcongenital heart diseases (chd) are the most common congenital anomaly in children and also the leading cause of mortality from congenital anomalies. various factors including smoking, drinking alcohol and addiction play role in development of congenital heart diseases. this study was conducted with the aim of investigation of the prevalence of addiction in parents of children with co...

Congenital heart defects comprise the most common form of major birth defects, affecting 0.7% of all newborn infants. Jacobsen syndrome (11q-) is a rare chromosomal disorder caused by deletions in distal 11q. We have previously determined that a wide spectrum of the most common congenital heart defects occur in 11q-, including an unprecedented high frequency of hypoplastic left heart syndrome (...

Pentalogy of Cantrell is a rare entity of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium and heart. The complete pentalogy and its variants have been described in the literature. We report a 47-day-old girl with an incomplete pentalogy of Cantrell presenting with congenital absence of the sternum, congenital heart defects, and an epigastric hernia. Two even rar...

The heterotaxy syndrome is a rare and sporadic disorder. This syndrome presents with situs ambiguus, splenic malformations such as asplenia or polysplenia, and congenital heart disease. Congenital heart diseases associated with this syndrome include a broad variety of manifestations. Patent ductus arteriosus is one of them and percutaneous transcatheter closure can be challenging in the setting...

Alagille syndrome is an autosomal dominant disorder that caused by heterozygous mutation of JAG1 or NOTCH2 gene impacts several multisystem organs including but may not be limited to the liver, heart, musculoskeletal, skin, and eyes. The most common congenital heart defect associated with multilevel right ventricular outflow tract obstruction multiple central peripheral branch pulmonary arteria...

background: delayed or missed diagnosis of critical and cyanotic congenital heart disease (chd) in asymptomatic newborns may result in significant morbidity and mortality. the aim of this study was to determine the accuracy of pulse oximetry screening  performed on the first day of life for the early detection of critical and cyanotic chd in apparently normal newborns. methods: this cross-secti...

echocardiography is considered the primary diagnostic tool for congenital heart diseases. the pediatric echocardiography diagnostic errors, consisting of false positive or discrepant diagnoses, picked up within a 2.5-year period in our pediatric echocardiography laboratory are presented herein. in this case report, the factors contributing to the diagnostic errors are categorized as cognitive s...

cor triatriatum is defined as a membrane within the left atrium, which might lead to restricted pulmonary venous return. diagnosis is usually achieved by echocardiography in early infancy. therapy of choice is the excision of the membrane. herein, successful correction of cor triatriatum in a 4-year-old girl is presented, and the clinical features, echocardiographic findings, and the surgical t...