Kansas City, Kan- Key points from today’s guests:

Addison Correll, patient, underwent genetic counseling

• As a newborn baby, she was diagnosed with mitral valve prolapse. For years, she was able to manage the symptoms with medications, but in her late teens, the condition became unbearable.
• At age 20, she had open heart surgery. Six years later, after transitioning to the Adult Congenital Heart Disease Clinic at The University of Kansas Health System, her cardiologist suggested cardiac genetic testing.
• Addison had a genetic “misspelling” that she inherited from someone in her family.
• Knowing about the underlying genetic issue was very helpful for the treatment and mindset of Addison.
• She now works as an administrative assistant in Cardiac Rehab at The University of Kansas Health System.

Dr. J.D. Serfas, interventional cardiologist, The University of Kansas Health System

• The type of mitral valve prolapse that Addison has is a variation that is more commonly associated with underlying genetic disorders, so it was important to test her for that.
• We see a lot of patients like Addison who had heart surgery as a child or a young adult.
• For most congenital heart defects, once the defect is there, there is not a lot that can be done genetically to fix things, but we can alter how we manage certain problems.
• If you have a known genetic defect that pre-disposes you to bigger problems, we might be able to fix it earlier with surgery or another method in advance.
• Genetic testing and counseling can be very impactful and life-changing – not just for the patient, but also the patient’s family for future family planning.

Shobana Kubendran, MBBS, CGC, genetic counselor and manager, Genetic Counseling Services, The University of Kansas Health System

• When we talk about markers, we’re looking at different types of genetic variation in the code – it’s like a recipe with a mistake in the measurements of ingredients.
• There is no such thing as a normal genetic code.
• If you want to get genetic testing, speak to your primary care provider or your cardiologist.
• We take the clinical information your providers have, plus your medical and family history, and we look to see if there are patterns and how a genetic test could help.
• There are many different types of genetic tests.
• For cardiology genetic testing, we’re finding out if there is a genetic marker for cardiomyopathy, arrhythmia, or a congenital heart defect.
• One of the challenges we face in healthcare is both the access to testing and making sure it is delivered in a culturally, socially appropriate manner – making it accessible.

Friday, Oct. 18 at 8 a.m. is the next Morning Medical Update. Hear more about how a mom of three – with one on the way – was diagnosed with cancer and was helped by oncologists and obstetricians who came together to save her and her baby.

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