Congenital heart disease and associated genetic red flags


What genetic red flags are associated with congenital heart disease? Jennifer Joiner, MSN, CPNP-AC/PC, joined Contemporary Pediatrics at the 45th NAPNAP National Conference to discuss the answer.

At the 2024 National Association of Pediatric Nurse Practitioners (NAPNAP) National Conference on Pediatric Health Care, held in Denver, Colorado, Jennifer Joiner, MSN, CPNP-AC/PC, along with colleague Alexandra Grace, MSN, CPNP-PC, presented their session titled "Genetic Red Flags Associated with Congenital Heart Disease."

Joiner joined Contemporary Pediatrics to discuss the session, and what primary care providers can learn and apply.


Jennifer Joiner, MSN, CPNP-AC/PC:

Hi, my name is Jennifer Joiner, I'm a pediatric nurse practitioner, I provide critical critical care to cardiac intensive care unit babies and I work at Methodist children's hospital in San Antonio, Texas.

Contemporary Pediatrics:

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


Last year, Alexandra Grace, MSN, CPNP-PC, my genetic nurse practitioner, and I really were struck by some of the commonalities that cardiac babies present with that also have genetic disorders. There were several things that would seem to come up and we called them red flags. We just thought that was so important to present to other providers to kind of help them along because some of these children have delayed diagnoses, that prevents them from reaching their maximum potential.

Contemporary Pediatrics:

What were the session's biggest takeaways?


Just remember the prevalence of congenital heart disease, everyone that takes care of children, they are going to run into children with congenital heart disease. It accounts for about 40% of the pediatric death at any one time 20% to 30% of the babies that are in neonatal ICU have congenital heart defects. Finding if they have a genetic component, or if it's other etiologies, causing some of their challenges, it's really up to us to put the pieces together. Those things are difficult to place together. We have, at our resource, an online access, that can help other providers, pediatricians, nurse practitioners, if they're suspecting that a child in their practice has this combination. They can upload some of those data characteristics that they're doing in their physical exam findings that the child is not a thriving, they may have failure to thrive, developmental delays, neurological compromise. They can input those data points in and with putting all the data together, can come up with a diagnosis. The web website is, and that's the Online Mendelian Inheritance in Man, and it's incredibly helpful for anyone and available to everyone. We want to share that and empower others to kind of look for those things and then they know that at that point, they need to reach out to the genetic colleagues and reach for help.

Contemporary Pediatrics:

How does your session relate to the primary care provider, and what should they know?


That's a great question. So for general pediatricians, pediatric nurse practitioners that practice primary care, those great physical exam skills, things you may find that just aren't fitting together. They may have a congenital heart defect, it may be a patent ductus arteriosus, the ventricle septal defect, and then they also are having development displays, they may have speech delays, they may not be growing appropriately, and putting all that together for those primary care providers is really important. Those little triggers to doing those great exams and getting a history from the parents. There could have been something that happened during the pregnancy, after delivery, things that kind of trigger you to come up with that diagnosis. Children that have genetic problems, it really becomes a family escapade. So, if the families are all going to get together, you're going to pull in maybe aunts, uncles, cousins, depending on the genetic abnormality. It may be just something that's popped up, it's not going to be spread and so that can really actually calm families that this is the next child doesn't have a chance to get out a very high chance of getting it and that genetic counseling is so important for those families.

For more NAPNAP coverage, click here.

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