Understanding Genetics and Pediatric Cardiac Health

Abstract

Congenital heart defects (CHD) continue to be the most prevalent birth defect that occurs worldwide in approximately 6-8 of every 1,000 live births. High rates of morbidity and mortality in infants, children, and adults living with CHD place a growing need for health care professionals (HCPs) to better understand potentially modifiable genetic and environmental influences. This paper will present examples of research and governmental initiatives that support genetics education and research and a review of known genetic factors associated with CHD development.

Organizing construct: A review of the known genetic factors on risk for CHD formation in infants will be provided to help health care professionals gain a greater understanding of the genetic influences on pediatric cardiac health.

Conclusions: There are known genetic pathways and risk factors that contribute to development of CHD. This paper is a primer for nurses and HCPs providing information of the genetics and inheritance patterns of CHD to be useful in daily clinical practice.

Clinical relevance: Nurses work in multiple communities where they are uniquely positioned to educate and provide information about research and current models of care with families affected by CHD. Nurses and HCPs who better understand genetic risk factors associated with CHD development can more promptly refer and offer treatment for these children and families thus providing individuals of childbearing age with the necessary resources and information about risk factors.

Keywords: Cardiac development; Congenital heart defects; Epidemiology; Etiology; Genetics.