Jennifer Joyner, MSN, CPNP-AC/PC, with colleague Alexandra Grace, MSN, CPNP-PC, at the 2024 National Association of Pediatric Nurse Practitioners (NAPNAP) National Pediatric Medical Conference in Denver, Colorado. , a session titled “Genetic Red Flags Associated with Congenital Heart Disease.”

Joyner has joined modern pediatrics Talk about the session and discuss what primary care providers can learn and apply.

transcript:

Jennifer Joyner, MSN, CPNP-AC/PC:

Hello, my name is Jennifer Joyner. I am a pediatric nurse providing critical care to infants in the cardiac intensive care unit at Methodist Children’s Hospital in San Antonio, Texas.

modern pediatrics:

What made you want to present the session “Genetic Red Flags Associated with Congenital Heart Disease” at NAPNAP 2024?

Joyner:

Last year, my genetic nurse, Alexandra Grace, MSN, CPNP-PC, and I were really struck by some of the similarities that babies with heart disease have genetic conditions. We called them red flags because some things are likely to happen. Because some of these children are diagnosed late and are not reaching their full potential, we believe it is critical that we present this information to other health care providers to assist them. I did.

modern pediatrics:

What was your biggest takeaway from the session?

joiner:

Remember the epidemic of congenital heart disease? Everyone who cares for children is bound to encounter children with congenital heart defects. Approximately 40% of child deaths are always accounted for by this disease, and 20% to 30% of babies in the neonatal ICU have congenital heart defects. It is precisely up to us to find out whether they have a genetic component or whether some other etiology is causing the problem and to put the elements together. It’s hard to put those things together. Our resources have online access to help other health care providers, pediatricians, and nurses if they suspect this combination in a child in their clinic. They can upload some of the data characteristics they have on medical exam findings that indicate the child is not thriving, may have stunted growth, developmental delays, or neurological disorders. You can input these data points and derive a diagnosis by combining all the data. The web website is OMIM.org, which is Online Mendelian Genetics. This is very helpful for everyone and available to everyone. We want to share it and allow others to look for those things. That way, they know at that point they need to contact their genetic colleagues for help.

modern pediatrics:

What does your session involve with primary care providers and what should primary care providers know?

joiner:

That’s a great question. Therefore, a general pediatrician or a pediatric nurse practicing primary care may find that something like good physical exam skills is just not a good fit. They may have congenital heart defects, they may have patent ductus arteriosus, ventricular septal defects, they may also have developmental defects, and they may have language delays. , and may not be growing properly, and when you put all of this together, primary care providers are really important. Those small triggers can lead to great exams and getting history from your parents. Something may have happened during your pregnancy or after giving birth that made you come up with the diagnosis. For children with genetic issues, it’s a real family escape. Therefore, if the whole family gets together, depending on the genetic abnormality, aunts, uncles, cousins, etc. may also get together. It could just be something that came out of nowhere, and since it’s not going to spread, you can actually reassure the family that the next child is not very likely to be infected and that genetic counseling is needed. . It’s very important to those families.