Previous studies have shown that 1 wk after permanent coronary artery ligation in rats, some cellular mechanisms involving TNF-alpha occur and contribute to the development of cardiac dysfunction and subsequent heart failure. The aim of the present study was to determine whether similar phenomena also occur after ischemia-reperfusion and whether cytokines other than TNF-alpha can also be involv...

Congenital heart defects are the most common malformation, and are the foremost causes of mortality in the first year of life. Among congenital heart defects, conotruncal defects represent about 20% and are severe malformations with significant morbidity. Insulin gene enhancer protein 1 (ISL1) has been considered a candidate gene for conotruncal heart defects based on its embryonic expression p...

The authors investigated the possible association between a mother's nausea during pregnancy and her child's risk for a congenital heart defect using data from the population-based Atlanta Birth Defects Case-Control Study conducted in 1982-1983. Case infants (n = 998) had nonsyndromic congenital heart defects and control infants (n = 3,029) had no congenital defects. Nausea during pregnancy (NP...

A survey conducted by cardiologists in Soweto, Johannesburg, provided an opportunity of assessing the frequency of congenital heart disease in black schoolchildren. Among 12,050 schoolchildren aged 2 to 18 years, 48 had a congenital heart defect, yielding a prevalence of 3.9 per 1000. Only in 2- to 6-year-old children did the prevalence exceed that of rheumatic heart disease. The distribution o...

background: delayed or missed diagnosis of critical and cyanotic congenital heart disease (chd) in asymptomatic newborns may result in significant morbidity and mortality. the aim of this study was to determine the accuracy of pulse oximetry screening  performed on the first day of life for the early detection of critical and cyanotic chd in apparently normal newborns. methods: this cross-secti...

BACKGROUND A congenital heart defect (CHD) can increase the risk of mental health problems in affected children and their parents. The extent to which risk factors for these problems are shared in families or are specific to the individual family member is unclear. METHOD Prospective data from the Norwegian Mother and Child Cohort Study (MoBa; n = 93,009) were linked with a nationwide CHD reg...

BACKGROUND The 22q11.2 microdeletion syndrome (22q11.2 deletion syndrome -22q11.2DS) refers to congenital abnormalities, including primarily heart defects and facial dysmorphy, thymic hypoplasia, cleft palate and hypocalcaemia. Microdeletion within chromosomal region 22q11.2 constitutes the molecular basis of this syndrome. The 22q11.2 microdeletion syndrome occurs in 1/4000 births. The aim of ...

The expression and function of embryonic myosin heavy chain (eMYH) has not been investigated within the early developing heart. This is despite the knowledge that other structural proteins, such as alpha and beta myosin heavy chains and cardiac alpha actin, play crucial roles in atrial septal development and cardiac function. Most cases of atrial septal defects and cardiomyopathy are not associ...

The 22q11.2 microdeletion syndrome (22q11.2 DGS) is characterized by an extreme intrafamilial and interfamilial variability. main clinical features are congenital heart defects, palatal abnormalities, learning disability, facial dysmorphisms immune deficiency. In 85–90% of cases, the DGS caused a heterozygous ~3-Mb deletion, including TBX1 gene, considered one major genes responsible for defect...