Congenital right ventricular diverticulum is an extremely rare form of congenital heart disease (CHD), often associated with pericardial effusion, for which little information exists regarding optimal management, natural history, or prognosis [1]. The first case in history was described in 1838 by O’Bryan [2] in a patient affected by Ectopia cordis. Right ventricular outpouches are less common ...

We report a series of five patients with congenital heart defects in whom a prenatal diagnosis of 22q11 deletion has been made. The accurate cardiac and cytogenetic diagnoses were made between 20 and 23 weeks' gestation in all cases and the cardiac findings were all confirmed postnatally. The cardiac abnormalities included tetralogy of Fallot with absent pulmonary valve, pulmonary atresia with ...

Conotruncal malformations of the heart are a major category of birth defects. No previous epidemiological studies on these malformations have been carried out in Egypt; therefore our study aimed to describe associations with maternal and infant factors in order to identify possible risk factors. Cases (N = 255) were children up to two years of age whose heart malformations were confirmed by ech...

OBJECTIVE To identify the proportion of major structural noncardiac anomalies identified with congenital heart defects (CHDs). STUDY DESIGN Records of infants with CHDs in the Metropolitan Atlanta Congenital Defects Program who were born during the period 1968 through 2005 were classified as having isolated, syndromic, multiple CHD (ie, having an unrecognized pattern of multiple congenital an...

Among the most well-characterized cardiac congenital malformations are those associated with DiGeorge syndrome (DGS)/velocardiofacial syndrome. DGS is mainly caused by heterozygous deletion of a region of chromosome 22q11.2 and is characterized by cardiac conotruncal malformations, aortic arch anomalies, dysmorphic face and hypoplasia of the thymus and parathyroid.1 This spectrum of anomalies i...

Thoracic aortic dilation (AD) has commonly been described in conotruncal defects (CTDs), such as tetralogy of Fallot, double outlet right ventricle and transposition of the great arteries, and truncus arteriosus. Several theories for this have been devised, but fairly recent data indicate that there is likely an underlying histologic abnormality, similar to that seen in Marfan and other connect...