Items tagged “congenital”

Intestinal malrotation is a congenital anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis. In incomplete rotation, the midgut does not rotate more than 180°, thus cephalad (prearterial or proximal) portion of the midgu...

Atrial septal defect (ASD) is the second most common congenital heart defect after ventricular septal defects (VSDs) and the most common to become symptomatic in adulthood. They are characterized by an abnormal opening in the atrial septum allowing communication between the right and left atria...

Hypertrophic cardiomyopathy (HCM) is a type of cardiomyopathy defined by left ventricular hypertrophy which cannot otherwise be explained by another cardiac or systemic disease. It is the leading cause of sudden cardiac death in infants, teenagers, and young adults. Terminology Although hypert...

Transposition of the great arteries (TGA), also known as transposition of the great vessels (TGV), is the most common cyanotic congenital cardiac anomaly presenting during the newborn period, with cyanosis in the first 24 hours of life. It occurs as a result of ventriculoarterial discordance, w...

Cardiac rhabdomyomas are a type of benign myocardial tumor and are considered the most common fetal cardiac tumor. They have a strong association with tuberous sclerosis. Epidemiology Cardiac rhabdomyomas are often multiple and can represent up to 90% of cardiac tumors in the pediatric populat...

18q deletion syndrome is a rare chromosomal anomaly where there is a deletion of part of the long arm of chromosome 18. Associated symptoms and findings vary widely, as do their severity. Characteristic clinical features include short stature, intellectual disability, hypotonia, facial, and dist...

Aberrant left pulmonary artery, also known as pulmonary sling, represents an anatomical variant characterized by the left pulmonary artery arising from the right pulmonary artery and passing above the right main bronchus and in between the trachea and esophagus to reach the left lung. It may lea...

Bladder exstrophy (also known as ectopia vesicae) refers to a herniation of the urinary bladder through an anterior abdominal wall defect. The severity of these defects is widely variable. Epidemiology The estimated incidence of bladder exstrophy is 1:10,000-50,000 live births 3,5. There is a ...