Courtney: Welcome to Health Matters, your weekly dose of the latest in health and wellness from NewYork-Presbyterian. I’m Courtney Allison.
When it comes to preventing heart disease, how much can we control with lifestyle changes and how much is genetic?
This week, Dr. Jessica Hennessy, a cardiologist with NewYork-Presbyterian and Columbia explains the role our family history plays in our heart health.
She also breaks down how genetic testing works and what we can all do to reduce our risk for heart disease.
Hi, Dr. Hennessy. Thank you so much for joining us today.
Hennessey: Thanks so much for having me
Courtney: We often hear how certain conditions, or even good parts of health, like longevity, are quote unquote genetic. Can you explain what this broadly means?
Hennessey: We have over 20,000 genes in our body. All these genes work together to make us all these unique individuals. And there is a large portion of them which play a role in all sorts of health, heart health, cancer, all the things that we think about with genetics.
Longevity and heart health are certainly inherited. It is clear in families who have longevity that their grandparents had longevity and their great grandparents had longevity, which may not have been the same number of years just because the medical field wasn’t as advanced, but that longevity is most certainly inherited.
What I think we don’t fully understand is how all these different genes playing together are going to lead to longevity directly. What I think we do understand, though, is that there are certain things that can take longevity the other way, decrease your longevity. And so by understanding our family history and understanding what our grandparents and great grandparents went through and had, we actually can see a little bit into the future for ourselves, both the good and the bad, really, and then find a way to try to mitigate that, try to make it as good as it possibly can be.
Courtney: Well, so speaking more specifically about cardiovascular health, how does someone’s genes influence heart disease risk?
Hennessey: I would love to break it down a little bit into different kinds of heart disease. Overall, about 30 percent of cardiovascular disease is genetic, is inherited in some way, at a minimum.
So I think about coronary artery disease as one type of heart disease. So that’s blockages in the arteries of your heart that ultimately can lead to heart attacks.
I think of inherited arrhythmias. So, abnormal heart rhythms that are led to by genetic changes specific to the heart muscle and the heart’s electrical system, really.
We think of cardiomyopathies, meaning abnormal muscles, and that’s sort of broken down into dilated, which is sort of enlarged chamber, and hypertrophic, where the walls are really thick.
And then finally, the last category that’s a little bit more of a catch all; congenital heart disease, meaning when you’re born with a structural abnormality in your heart. And each of those have various areas in which genetics really plays a part in, or may not play a part in as directly. And that’s, I think, what makes it maybe a little bit more interesting to break down than sort of the overall, which is, yeah, like I said, 30, maybe 50 percent or so.
Courtney: Which is the most common, and can you just describe what role genetics plays in it?
Hennessey: So coronary artery disease is the most common, and that’s the one I think that we’re all worried about in the setting of thinking about our weight and heart attacks and the things that you hear about in the general population.
There is a form of familial coronary artery disease, and that typically is caused by problems with the way we metabolize cholesterol, so that we get a ton left in our body, in our bloodstream, and then that gets deposited in our heart arteries.
That true familial coronary artery disease is maybe 5 percent of all of that genetic coronary artery disease. And those are very specific genes. One in particular you may have heard about as the LDL receptor.
The other is sort of polygenic, multiple genes. There’s lots of – if you look it up – these polygenic risk scores that put together all these different family history components to sort of say Where are you in the spectrum of genetic risk of coronary disease? Are you low risk? Are you medium risk? Or are you high risk?
Courtney: So we’re often told to know our family history, which you’ve touched on. What degree relative should you be looking at?
Hennessey: That’s a great question because I hear about someone’s third cousin twice removed all the time. While everything is really helpful. But when we’re talking about genetics, we’re talking about your first degree relative. I want to know about your parents. I want to know about your siblings. I want to know about your grandparents.
And then if we’re trying to figure things out, knowing about your parents siblings as well is extremely helpful in trying to understand. We build kind of a family tree or a pedigree to assess for a pattern and how this may be inherited if we’re talking about a certain condition.
Courtney: Right. And do you have any tips for getting these conversations going with family?
Hennessey: So the questions I would really be asking my parents if I were to say, okay “what is my cardiovascular risk?” Did anyone have surgery on their heart? That’s an easy question because, you know, does anyone have a scar?
You’re going to get to things like aortic disease. Bypass surgery for coronary artery disease. They may say no, but they had this pacemaker placed. You’re going to learn about arrhythmias that way. So that’s a really easy question sometimes to ask. Or they might allude to stents being placed through the wrist or through the groin in their heart. So that’s probably a good first question to ask. Did anyone ever have any surgery on their heart?
And then you could dive in, almost to the categories I described. Anyone had blockages in their arteries? Anyone have any arrhythmias? Anyone have any cardiomyopathies? Was anyone born with anything abnormal in their heart?
And then you’re asking risk factor questions, right? So that’s one piece: was anyone diagnosed with a real thing, right? But then it’s the other thing, who has high blood pressure in my family?
You know, everybody has high blood pressure in my family who has diabetes in your family. Oh, a lot of people have diabetes. You start again, you think about building a family tree and marking all the family members who have these things and all of a sudden you’re like, oh, wow, that’s, that’s probably an issue in our family.
Right. And that’s sort of then the next step to help, you know, okay. What’s my future? Oh, I’m probably gonna have high blood pressure when I’m older, right? So maybe I should work on this now.
Courtney: Is heart disease preventable even if you are genetically predisposed? Can lifestyle modifications help?
Hennessey: I will say yes and no. It depends on what we’re talking about.
Coronary artery disease is not totally, but mostly preventable. Our lifestyle is not conducive to helping our coronary arteries, generally speaking, right?
One of the biggest risk factors for coronary artery disease is smoking cigarettes. Like, that has to stop. Smoking cigarettes has to stop. We know how bad that is for you.
Diet is really important too. Eating a true heart healthy diet. So what does that mean? So, whole foods, fruits, vegetables, whole grains, lean proteins, healthier fats, like olive oil, avocado, they all can help you reduce the risk of multiple types of cardiovascular disease.
Also, blood sugar is really important here when we’re thinking about our diet. When you have very refined sugars, a lot of refined carbohydrates, you’re basically promoting what we call insulin resistance, meaning the first stage of type 2 diabetes. And by decreasing this insulin resistance, you can decrease your risk of coronary disease, ultimately.
Courtney: Mhmm. What are some other things we can do to help mitigate risks?
Hennessey: Other things, physical activity, exercise. I think the biggest point to make about exercise is that you don’t have to go high intensity interval training every day and think that’s the only way you can lose weight and be heart healthy in your exercise.
150 minutes of moderate intensity exercise is really all you got to do a week. Or 75 minutes of more vigorous activity. Muscle strength training activities decrease your risk of insulin resistance because muscle is what takes in the most insulin. So by really working your muscles hard, then they need more of that stuff and they’ll take it in and put it to building muscle, not put it to building fat or in other parts of your body.
And the other thing is stress management. Like stress and poor sleep do not help your situation. Stress releases different kinds of hormones in our body. Those different kinds of hormones put you in sort of a crisis mode, and it’s not good for your heart.
It’s not good for your brain, because then what do you do? People stress eat, or they don’t eat, or start smoking again, for example, on top of all the other things that it’s actually doing to your body at baseline. And so, things like mindfulness, and yoga, and deep breathing, is probably one of the easiest things you can incorporate into your daily life.
Courtney: So it sounds like these changes in habits are important for anyone. And going back to the genetic piece of heart health, who do you recommend get genetic testing and what does that look like?
Hennessey: The easy answer to this is anyone who has a family member who was genetically positive for something should start with clinical screening. Get an echocardiogram, an EKG, whatever it may be that would show what the condition is. And certain conditions we would genetically test whether you looked normal or abnormal because they’re what we call high risk conditions.
So before they actually get to our office, they have what’s called a, pre phone call with our genetic counselor. In that genetic counseling call, a few things are accomplished. Objectively, initial family history is obtained. And that helps us lay out sort of what are we really dealing with here with the family, as far as what conditions are around in the family, what are we really looking at.
The second thing is really explain the process to them before they even get to the office, because it can be a lot. And basically clinically screen them, listen to their heart and lungs, go through some exam findings, clinical questions, et cetera.
The patient is prepared, which is amazing, right?
Then they come in and they’re in the office. I’m going through all their records. I’m talking to them about their echoes. Have you had a cardiac MRI? What’s your EKG look like? I always repeat all the information about genetic testing, how it works, types of results.
Most of it is done, we call it exome sequencing, meaning looking at every gene that makes a protein in the body. The results take about four to six weeks to come back. So we always have a scheduled phone call. That way it’s sort of in a more controlled manner. And if our example patient did come back positive for this change. Then I see her back in the office pretty much the next week and I say, let’s talk about this.
Like we just figure it out from there.
Courtney: And what if someone can’t ask about their history? For example, if they’re adopted?
Hennessey: So, I wouldn’t recommend empiric genetic testing. And when I say that, I would say I wouldn’t just go get a panel of genes and see what we find. We understand a lot, and are getting closer but we’re not there yet.
There are other factors that play into genetic testing besides knowledge. Knowledge is power to a point. I recommend for someone who was adopted, is to do their due diligence of getting clinical screening in this case, which means actually go to the doctor and get your blood pressure checked and actually listen to them if they say yeah, it’s a little high.
You can’t see into the future as easily, so take steps to mitigate your risk. Keep your cholesterol under control, you know? Don’t kind of let things go on the wayside. Think about doing something like a coronary calcium score, which is a non contrasted CT scan, just to sort of get a sense of do you have any calcium or evidence of coronary disease in your heart.
I think the other point about genetic testing is that we don’t know everything yet.
So, I think the conception that genetic testing is gonna answer everything and tell me everything about what I have to do is is the major thing I’m actually, the major point I’m trying to make here is that it’s a really really important part of it, but it’s not everything. And your clinical picture, what your heart function is, how much you’re able to exercise, all those other things that we talk about that are really your everyday life, your well being, your happiness are actually a really big part of this too.
Courtney: Your happiness, I love that.
Dr. Hennessy, thank you so much for being on our show today.
Hennessey: Thanks!
Courtney: Our many thanks to Dr. Jessica Hennessey. I’m Courtney Allison.
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