Goal 2: Reduce Human Disease

Environmental induction of congenital heart defects and finding means of prevention

Congenital heart defects (CHDs) continue to be the leading cause of death among all infants with birth defects. It is reported that approximately 10% of cardiac congenital anomalies have a genetic basis. An equal percentage, or ~10%, is due to environmental factors. For ~60% the etiology is unknown and considered to have a multifactorial basis, eg, environmental agents having a role against a specific genetic background, as with obese and diabetic mothers who are at increased risk for giving birth to a child with heart defects. Most studies, however, address CHDs by manipulating only single specific genes and analyzing effects. Except for rare diseases in which single gene mutations may be involved, most tend to be multifactorial.

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Is this idea a Compelling Question (CQ) or Critical Challenge (CC)? : Critical Challenge (CC)

Details on the impact of addressing this CQ or CC :

College drinking is up especially among young women. Women of both high and low income levels drink, may be smoking marijuana, or are exposed to other environmental toxicants. Are there gender effects, as it has been reported that in the US, more male babies undergo severe cardiac surgeries than female. Few grants are presently funded that take a teratological approach to understanding mechanisms underlying induction of congenital heart defects that can occur before a women realizes being pregnant. The embryo may already have been harmed by then and the effects last a lifetime for the child. High dose folate may be preventative of CHDs and this needs to be better defined and the effects of high folate doses on the adult and fetus need to be analyzed. A possible role for gender should be defined.

Feasibility and challenges of addressing this CQ or CC :

A recommended goal is to emphasize the submission of grants specifically addressing the etiology of congenital heart defects due to environmental factors and their prevention, using cell and molecular teratological approaches. Reinstate a study section on Teratology and Toxicology of Birth Defects made up of PIs working in those fields. There used to be four such study sections and were all removed years back. One such section should be reinstated. Current study sections lack such individuals on the panels due to this area receiving little funding. The neural field is way ahead in funding this topic and as a result the heart tends not to be mentioned in available literature that is provided to women of child-bearing age. Yet the risk for heart anomalies is equally as high and important as are effects on neural development. Similarly, both have lifelong consequences for the individual physically and psychologically and in cost to society with repeating hospitalizations and surgeries. Effects on the heart may be so severe that death occurs already in utero and may not always be counted among the epidemiological studies.

Name of idea submitter and other team members who worked on this idea : Kersti K. Linask, PhD

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Idea No. 458