BACKGROUND Industrial spills of volatile organic compounds (VOCs) in Endicott, New York (USA), have led to contamination of groundwater, soil, and soil gas. Previous studies have reported an increase in adverse birth outcomes among women exposed to VOCs in drinking water. OBJECTIVE We investigated the prevalence of adverse birth outcomes among mothers exposed to trichloroethylene (TCE) and te...

BACKGROUND The reasons for decreasing birth prevalence of congenital heart defects (CHDs) in several European countries and Canada are not fully understood. We present CHD prevalence among live births, stillbirths, and terminated pregnancies in an entire nation over a period of 16 years. METHODS Information on all births in the Medical Birth Registry of Norway, 1994-2009, was updated with inf...

The majority of patients with DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), conotruncal anomaly face syndrome (CTAFS) and some individuals with familial or sporadic conotruncal cardiac defects have hemizygous deletions of chromosome 22. Most patients with these disorders share a common large deletion, spanning > 1.5 Mb within 22q11.21-q11.23. Recently, the smallest region of deleti...

now-a-days truncus arteriosus has been known as “common arterial trunk” (cat) and is an uncommon congenital cardiac defect presenting in about 1-3% congenital heart disease. environmental and genetic factors effects on incidence of cat and other conotruncal anomalies. the majority patients with cat and 22q11 deletion have other anomalies such as hypoplasia or aplasia of the thymus or parath...

BACKGROUND The 22q11.2 deletion syndrome is the most frequent human microdeletion syndrome. The phenotype is highly variable, being characterized by conotruncal heart defect, facial dysmorphisms, velopharyngeal insufficiency, learning difficulties and mental retardation. OBJECTIVE The objective of this study was to investigate the frequency of deletion 22q11.2 in a Brazilian sample of individ...

OBJECTIVE To describe the spectrum of cardiac defects in monochorionic (MC) twins discordant for congenital heart disease (CHD) in a referral center population. METHOD Retrospective study of all twin gestations undergoing echocardiography between 2000 and 2009 at our institution. RESULTS A total of 356 twin pairs were evaluated during the study period, 202 for suspected twin-twin transfusio...

Gap junctions are intercellular channels formed by oligomerization of a protein called connexin (Cx). The heart expresses at least three connexin isotypes: Cx40, Cx43, and Cx45. A possible role for Cx40 in cardiac morphogenesis remains to be determined. We have characterized the anatomy and histology of fetal and newborn hearts obtained from crossing Cx40-deficient mice of mixed genetic backgro...