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...

background pulmonary artery banding (pab) is a technique of palliative surgical therapy used by congenital heart surgeons as a staged approach to operative correction of congenital heart defects. materials and methods we report 5- year experiences from january 2011 to january 2016 of imam reza hospital center (a tertiary referral hospital in mashhad city, north east of iran) that consist of 50 ...

conclusions surgical repair of the congenital mv disease yields acceptable early and intermediate-term satisfactory valve function and good survival at intermediate-term follow-up. strong predictors for poor surgical outcome and death were age smaller than 1 year, weight smaller or equal than 6 kg, and associated cardiac anomalies such as pulmonary stenosis. objectives the aim of this study was...

background pulmonary arterial hypertension (pah) is a serious complication of unrepaired congenital left-to-right shunts. the final consequence is right ventricular (rv) systolic dysfunction and reversal of shunt. objectives the aim of this study was to evaluate the clinical course and paraclinical findings in a group of patients with pah associated with congenital heart disease (pah-chd). we a...

conclusions parents were blood relatives in 33 (33%) of the patient cases, which is a very high rate. therefore, non-random mating is an important issue in developing countries that needs more attention results 100 patients with down syndrome and congenital heart disease were evaluated; 52 were female (52%) and 48 were male (48%). the average birth weight of the subjects was 2745 ± 523 (mean ± ...

Cardiac magnetic resonance imaging (CMR) can provide comprehensive anatomic and physiological information about the cardiovascular system. The review article describes the application of CMR to several simple congenital heart lesions: atrial septal defects and other interatrial communications, ventricular septal defects, patent ductus arteriosus, partially anomalous pulmonary venous connection,...

the term congenital hypopituitarism defines deficiency of all of the pituitary hormones. hypoglycemia and microphallus (in males) are common findings, and some infants have shown evidence of the neonatal hepatitis syndrome. we report a case of congenital panhypopituitarism with deficiency of six major hormones and association with severe hypoglycemia, impaired liver function tests and congenita...

Congenital heart disease in adults (adult congenital heart disease) is a growing burden for healthcare systems. While infant mortality due to congenital heart disease in the last four decades decreased by almost 3-fold, adult congenital heart disease prevalence increased by more than 2-fold in United States. Adult congenital heart disease prevalence is expected to increase steadily until 2050 i...