Kristina, patient: I was turning 35, I decided I really needed to have a full-blown, comprehensive physical, and I had an EKG. And it turned out that I have HCM.
Monica, patient: I always remember kind of getting chest pains here and there or feeling my heart skip a beat. But again, every time I would raise this to my doctors, they would say, well, we can’t really find anything that’s super concerning. So we’ll continue to monitor you every two years. About three years ago, my dad died suddenly in our backyard, and so we went back to our cardiologists and dug a little bit deeper.
Screen: Sisters Monica and Kristina were referred to Stanford for further evaluation.
Euan A. Ashley, MD, cardiologist: This is a disease where a genetic change in the gene that codes for the heart muscle causes the heart to become thicker and stiffer.
Kristina: I did all the testing in one day, and then met with Dr. Ashley.
Dr. Ashley: We take a lot of time with the patients, and we want them to be able to understand how the condition affects them and how it affects their other family members so we can potentially protect other family members.
Monica: I also have HCM. My heart shows minor symptoms of the disease, so Dr. Ashley made the recommendation that I move forward with having an ICD implanted.
Dr. Ashley: A small number of the patients are at risk with heart failure, and one of the ways that we have of helping with that is to implant a small device under the skin that monitors the heartbeat. And if they were to be in a particularly bad rhythm, it can even deliver therapy and bring their heart back to a normal rhythm.
Kristina: Anytime I feel something on that monitor, I press it and then they download all the data. They’ll call and go over that. Whether it be working out at the gym, or going to work, or running around with my kids, I feel comfortable and confident that I’m not going to suddenly have some sort of cardiac event.
Colleen Caleshu, genetic counselor: We’re really caring for the whole family. You’re here for your own care, but we’re also thinking about your children, your brothers, your sisters, your cousins, your parents. Who else in your family could have this heart condition but they don’t know it?
Kristina: The first priority for me was to make sure my dad’s sister also be tested, just so we can all find out if there’s anything we need to do for our kids.
Colleen: Every single inherited heart condition that we know of to date has a treatment. That’s why it’s so important that family members who feel healthy but have a heart condition in their family get evaluated. Because there is treatment, and sometimes that treatment is lifesaving.