using criteria put forth by Verloes [1], patients with CHARGE syndrome show varying phenotypes that considerably overlap those of other syndromes such as Kallmann syndrome, VACTERL association (vertebral anomalies, anal atresia, cardiac defects, tracheoesophageal fistula, esophageal atresia, renal anomalies, and limb defects), and 22q11.2 deletion syndrome [3,6,7]. Chromosome 22q11.2 deletion i...

In neonates and infants with congenital heart disease (CHD), cardiovascular magnetic resonance (CMR) is an established imaging modality in all patients in whom echocardiography does not provide sufficient information and definitive diagnosis. CMR is noninvasive, and does not involve vascular catheterization or ionizing radiation. Therefore the use of CMR obviates the potential risks of cardiac ...

BACKGROUND Cardiac dual-source computed tomography (DSCT) is primarily used for coronary arteries. There are limited studies about the application of DSCT for congenital heart diseases. The aim of this study was to determine the diagnostic value of DSCT in the cardiac anomalies. MATERIAL/METHODS The images of DSCTs and conventional angiographies of 36 patients (21 male; mean age: 8.5 month) w...

Unilateral absence of the pulmonary artery (UAPA) or pulmonary artery agenesis is a rare congenital disorder presenting with a wide spectrum of symptoms. UAPA is usually associated with cardiac anomalies and surgically treated in childhood. We report a rare case of a 50-year-old woman who was diagnosed with left pulmonary artery agenesis without any other cardiac anomalies. Clinicians should be...

BACKGROUND The purpose of the paper is to review the incidence of associated congenital anomalies that are encountered in patients presenting anorectal malformations and compare these results with those previously published. MATERIAL AND METHODS A number of 50 cases with ARM from our institution were reviewed (from 2005 to 2012) and information was collected on patient demographics, type of A...

Coronary artery anomalies are often discovered incidentally during cardiac catheterization or computed tomography coronary angiography and may involve the affected coronary artery origin and its course. Coronary artery anomalies are associated with congenital heart disease. The affected coronary arteries may have an unusual high take off origin, origin from contralateral or non-coronary sinus, ...