Understanding Genetics and Pediatric Cardiac Health
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Published on: May 5, 2018
Mary R Butler1, Michael J Carvan2, Teresa S Johnson3
1Pediatric Cardiology Nurse Practitioner, Neenah, WI; Medical College of Wisconsin, Children's Hospital of Wisconsin, Neenah, WI; Children's Specialty Clinic, Herma Heart Center, Neenah, WI.
Insights
Congenital heart defects (CHD), a common birth defect, have known genetic factors influencing their development. Understanding these genetic risks is crucial for healthcare professionals to improve patient care and outcomes.
Area of Science:
- Pediatric Cardiology
- Medical Genetics
- Public Health
Background:
- Congenital heart defects (CHD) are the most common birth defects globally, affecting 6-8 per 1,000 live births.
- High morbidity and mortality rates associated with CHD necessitate a deeper understanding of genetic and environmental influences.
- Healthcare professionals require enhanced knowledge of genetic factors to address the growing burden of CHD.
Purpose of the Study:
- To review known genetic factors contributing to CHD development.
- To provide healthcare professionals with a better understanding of genetic influences on pediatric cardiac health.
- To support genetics education and research initiatives related to CHD.
Main Methods:
- A comprehensive review of existing research on genetic factors associated with CHD.
- Analysis of governmental initiatives promoting genetics education and research in CHD.
- Synthesis of information on genetic pathways and risk factors for CHD.
Main Results:
- Identified known genetic pathways and risk factors implicated in CHD development.
- Highlighted the importance of genetics education for healthcare professionals.
- Emphasized the role of nurses in educating families about CHD genetics and risk.
Conclusions:
- Genetic factors play a significant role in the etiology of CHD.
- This paper serves as a foundational resource for nurses and HCPs on CHD genetics and inheritance patterns.
- Improved understanding of genetic risk factors enables earlier intervention and better management for individuals and families affected by CHD.
Unlabelled:
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.
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