Understanding Genetics and Pediatric Cardiac Health

Kailee Engel
Power Point Project

02/28/2016
Understanding Genetics and Pediatric Cardiac Health
The work nurses do in multiple communities is unique to each and every specific
community. There are put in the position to educate and provide the needed information about
research and current care models with families that are living with a loved one affected by a
congenital heart defect. This article explains up to date practices for nurses and provides
information that can help nurses work efficiently to help families through a difficult diagnosis
like one of a congenital heart defect. This paper presents examples of research and governmental
resources that fund genetics learning and research. Also a review of known genetic factors
associated with congenital heart defect development is supported and explained throughout this
article. There are known genetics and certain risk factors that can contribute to the development
of a congenital heart defect. This paper is an introduction for nurses and primary care providers
in providing information of the genetics and inheritance patterns of congenital heart defects to be
useful in day-to-day clinical practice.
As stated in the article, “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.” It
is very important that nurses and other health care professionals understand this condition and
how to manage families and care for the patient the best way possible. This article gives many
perceptions in how nurses can educate families who are looking into pregnancy and giving them
the options they need to know their risk of genetic abnormalities like a congenital heart defect.
There are high rates of morbidity and mortality in infants, children, and adults living with a
congenital heart defect and they place a growing need for health care professionals to better
understand potentially adaptable genetic and environmental stimuli. This article also goes into
great depth about a review of known genetic factors linked with congenital heart defect
development.
A review of the known genetic factors that predispose infants for the risk for congenital
heart defect formation is provided to help health care professionals and in turn they will gain a
greater understanding of the genetic influences on pediatric cardiac health. This article is to be
useful in daily clinical practice throughout the world. In this journal there are many different
ways to improve care and better understand the life associated with congenital heart defects.
With nurses and health care professionals who can better comprehend genetic risk factors related
to congenital heart defect development, they can more quickly refer and offer treatment for these
children and families. This will provide individuals of childbearing age with the necessary
resources and information about risk factors for congenital heart defects.
Terms:
1. Embryonic: this relates to an embryo development

2. Septal defect: congenital abnormalities in the septum between the left and right side of
the heart.
3. Cardiofaciocutaneous syndrome: this disorder affects many parts of the body. Cardio-
meaning heart, fascio- meaning facial features, and cutaneous- affects the skin and the
hair.
4. Amniocentesis: a procedure in which the fluid inside of the amniotic sac of a pregnant
woman is tested for possible genetic abnormalities of the fetus.
5. Etiology: the cause of a condition or a disease
6. Cardiovascular disease: a classification of diseases that involve the heart and/or blood
vessels.
7. Epigenetics: inherited but it is not produced by a change in DNA Sequence. Influences
on gene expression.
8. Cardiogenesis: development of the heart in the embryo.
9. Pathology: science of the cause of a disease or condition. This is normally done within a
laboratory.
10. Echocardiography: two-dimensional, three-dimensional and Doppler ultrasound to
create and image of the heart for diagnosis of underlying heart conditions or the
possibility of heart conditions.
References
Butler, M. R., Carvan, M. J., & Johnson, T. S. (n.d.). Understanding Genetics and Pediatric
Cardiac Health. Journal of Pediatric Nursing, 31(1), 3–10.
doi:10.1016/j.pedn.2015.10.023
Experiences of Pediatric Oncology Patients and Their Parents at End of Life: A Systematic
Review
This article goes into great depth about the research that has occurred to determine the
different ways that families deal with children who have cancer at the end of their life. It is
explored throughout this article that the development in pediatric palliative and end-of-life care
is as an ongoing research priority. The child and parent familiarity provides valued information.
This information is to guide how health care professionals can improve upon the changeover to
end of life and the care that will be provided to children and families during this very vulnerable
period of time in their life. The purpose of this systematic review in the article was to define the
experience of pediatric oncology patients and their parents during end of life, and categorize
gaps that need to be addressed with different types of interventions.
The examination of the evidence discovered 5 themes: symptom prevalence and
symptom management, parent and child perspectives of care, patterns of care, decision making,
and parent and child outcomes of care. Strategies for quality end-of-life care are needed in
today’s society because the advancement of medicine is held to a much higher standard. More
research is needed to address operational gaps that include the pediatric patient and even their
sibling’s experience. The objective of supportive care is to enhance the quality of life for young
cancer patients and their families for as long as possible. Cancer in children is different from
cancer in adults and thus it must be treated differently. This article explains that children of
different ages need different treatment and support. Families even recognize this aspect of life.
A child's circle of family and friends may be larger than it typically is for adults when they are
in this type of situation. They have classmates and a school that is most likely standing beside
them and hoping for the best possible outcome. This article is the best example as to the
differences in how to treat every patient that comes through the cancer ward. The article is a
broad case study and research proposal that is able to help nurses and health care professionals
understand the different implementations that can be applied to the different patients.
Most difficult life decisions about care will be made by the child's parents or guardians in
almost every instance. This is the most important aspect of this article because it shows the
readers that there can be a controversial aspect to these studies. Immediate family is the single
most important factor in the pediatric cancer patients lives. These family members will have to
make the most difficult decision and sometimes it will be against what the patient wants. This
article does help nurses understand that because the patient is underage that they will have to do
as the family or guardians say. This can be a hard concept for some health care professionals
and nurses because care is normally patient centered but in these cases it may not always appear
that way. This is a very informative article that helps nurses and other health care professionals
be able to better guide families that may be having a hard time making certain decisions. The
article is very well written and gives many sides as to not be bias.
Terms:
1. Oncology: the study and treatment of tumors.

2. Palliative care: the treatment and relief of mental and physical pain without curing the
causes, especially in patients suffering from a terminal illness.
3. EOL: end of life, this refers to the preparation of the end of someone’s life.
4. Hematopoietic: the production of blood cells and platelets, which occurs in the bone
marrow.
5. Nonpharmacologic: ways of treatment that do not involve medications like relaxation
techniques, deep breathing, exercise, and so much more.
6. Euthanasia: "a deliberate intervention undertaken with the express intention of ending a
life, to relieve intractable suffering".
7. Cardiopulmonary: relating to the heart and lungs.
8. treatment toxicity: the toxic effects of the medication given to a patient.
9. Chemotherapy: the treatment of disease by the use of chemical substances, especially
the treatment of cancer by cytotoxic and other drugs.
10. Neurological: relating to the anatomy, functions, and organic disorders of nerves and the
nervous system; relating to the symptoms that most occur at the EOL.
References
Montgomery, K., Sawin, K., & Hendricks-Ferguson, V. (2016). Experiences of Pediatric
Oncology Patients and Their Parents at End of Life: A Systematic Review. Journal of
Pediatric Oncology Nursing, 33(2), 85–104. doi:10.1177/1043454215589715

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Kailee Engel

Power Point Project

Understanding Genetics and Pediatric Cardiac Health

useful in day-to-day clinical practice.

1. Embryonic: this relates to an embryo development

gaps that need to be addressed with different types of interventions.

The examination of the evidence discovered 5 themes: symptom prevalence and

1. Oncology: the study and treatment of tumors.

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