Cardiogenetics: Detecting and Preventing Heart Disease Before it Strikes

Tune in to the full podcast with Dr. Susan O’Donoghue.

A relatively new sub-specialty of cardiology is helping people with a family history of certain serious heart problems understand their risk of developing the same conditions and how to prevent them.  Called cardiogenetics, the service is usually only available at advanced heart centers like MedStar Washington Hospital Center, which opened the first program in the Washington metropolitan area. But during the field’s short history, cardiogenetics has already demonstrated its value in identifying some inherited heart syndromes and improving, even saving, the lives of individuals with genetic-based heart disease.  

That’s because some very specific and dangerous heart problems are known to have strong genetic components. Yet until now, we’ve had to rely on clinical findings, EKGs and imaging to diagnose and treat such conditions—most often, after symptoms have surfaced and the damage has already begun. In contrast, cardiogenetics gives us a new type of tool that can actually help predict the likelihood of developing the disease, allowing us to make pre-emptive strikes before problems arise.  

Cardiogenetic Testing—When and Why  

Despite the prevalence of cardiovascular disease in the United States, cardiogenetic testing is only used for a subset of conditions. Testing is most often recommended because of a suspicious finding on a patient’s EKG or other test, his or her symptoms, or personal or family history. Red flags include fainting or palpitations during exercise, a diagnosis of heart failure at age 40 or younger, multiple family members with the same heart condition, or an incidence of sudden, unexpected death in the family.  

To date, the conditions most suitable for cardiogenetic testing are a few specific structural and electrical abnormalities that can produce fatal irregularities in the heart’s rhythm, including hypertrophic cardiomyopathy (HCM) and long QT syndrome (LQTS). Anyone with an inherited heart disease like HCM or LQTS may face a 50/50 chance of passing this genetic error on to their children.  

Hypertrophic cardiomyopathy, an abnormal thickening in the walls of the heart muscle that restricts blood flow and weakens the heart, may result in ventricular fibrillation, a fatal arrhythmia. Quite common, HCM occurs in roughly 1 out of every 500 people and is the leading cause of sudden cardiac death in people 30 and younger, in which the heart suddenly stops beating, without warning.  

If an individual is found to have a defective HCM gene, we can then screen family members to determine who, if anyone, is at increased risk for the condition and needs close follow-up for early identification of disease and intervention. If the genetic error is discovered in a child, for instance, precautions might include frequent monitoring, an echocardiogram every few years and other safety measures, such as avoiding competitive sports. Conversely, a negative finding frees parents and kids from increased vigilance, life-style restrictions, and worry…at least for HCM.  

How it Works

Cardiogenetic testing is extremely simple for the patient, as it only involves collection of blood or saliva samples. Then the tricky part begins, as specialists work to find potential molecular changes that indicate—or, more often, suggest—the presence of the genetic material responsible for the disease.  

There are three possible outcomes:

  • Positive: a genetic error is causing the patient’s disease or symptoms.
  • Negative: there is no evidence of a genetic mutation.    
  • Inconclusive: something genetically unusual is discovered, but science does not yet understand the relationship between the mutation and the disease; i.e., the genetic variation could be harmless or harmful.

If tests identify a genetic disorder, recommendations range from avoiding certain things (like some common medications, strenuous exercise or excessive alcohol consumption) to watchful waiting to the prompt initiation of medical, electrophysiological or surgical treatment.

Fortunately, we have the full array of proven and promising treatments available, multiple experts in every aspect of cardiac care and a certified genetic counselor in cardiology who can help guide patients and families in their decisions.

Knowledge is Power

As scientists continue to learn more about the genetic basis for heart disease, the field of cardiogenetic testing will evolve as well. Until then, interpretation is often as much art as science.

Because of the field’s newness and complexity, current consensus guidelines advise that cardiogenetic testing only be carried out by dedicated centers, like ours, that offer genetic counseling before and after testing. That assures that patients and family members understand the various implications of results and options so they can make fully informed decisions.    

Meanwhile, a patient’s best bet to defeat or minimize hereditary disease, of any type, is to be aware of his or her family’s medical history. In the presence of arrhythmias, congestive heart failure or cardiac arrest, ask your physician whether cardiogenetics testing might be appropriate for you. Results can help you eliminate, postpone or reduce the effects of genetic conditions or, if negative, reassure you that you’re not following in your family’s footsteps. Either way, knowledge is power!

Listen to Dr. O’Donoghue’s podcast interview about cardiogenetics.



29 Things You Should Do for a Healthy Heart

You’re heard it many times before -- follow a healthy lifestyle for a healthy heart. Sounds simple, right?  But it’s not always so easy to pull off. A heart healthy lifestyle can reduce the risk for heart disease by as much as 80%!  But what is a “heart healthy lifestyle”?  It’s a commitment to many habits in our daily lives centered on our activity, diets, mindset and awareness.  There is no one “magic” thing. When lifestyle isn’t enough, talk with your doctor to set goals you can realistically achieve, such as losing weight or lowering your cholesterol or blood pressure levels. Sometimes, it takes medications that can be very helpful to optimizing your heart risk.

So, commit to making the many small lifestyle changes that make a healthy heart a snap! The key to success is to make small changes in many areas. No matter what you do, remember to take it day by day, and work to sustain your gains.

With that in mind, we’ve compiled 29 heart health tips. Knowledge is power!  Read on to find out what you can do to keep your heart healthy. Only you can love your heart. So start today!

1. Make time for exercise: Exercising 30 to 60 minutes on most days will cut your heart risk in half.

2. Know your heart disease risk: Calculate your risk by plugging your numbers into an online calculator.

3. Never ignore your chest pain:  Pain can be felt anywhere in the chest area, arms, your back and neck.

4. Check your blood pressure: Let the healthy blood pressure number be below 140/90. Both numbers matter!

5. No smoking: Don’t smoke, and ask your loved ones to quit.

6. Aspirin: Should you take aspirin? If you have heart disease, yes! If you don’t have heart disease, then maybe not! Ask your doctor.

7. Moderate exercise: How do you know whether you are exercising moderately? You should able to carry on a light conversation

8. Stress: Is it bad for your heart? Yes, sustained stress is, no matter the source. Learn to control your stress to prevent heart disease.

9. Second hand smoke is dangerous! Public smoking bans in the community have reduced heart attack risk by 20%.

10. Sex: Is your heart healthy enough for sex? Sex has a “heart workload” like climbing two flights of stairs.

11. Dark chocolate: Give your loved ones chocolate as a gift on Valentine’s day! Regular chocolate eaters have less heart and stroke risk!

12. Order wine with your dinner! Moderate intake is associated with lower heart risk. (Consume wisely!)

13. Red or white wine? Is one better for your heart? Wine, beer or spirits all show a similar relationship to lower heart risk.

14. The “Mediterranean diet” is the most heart healthy way to eat. Studies show this diet reduces heart attack risk up to 30%.

15. Mediterranean diet = veggies, fruits, nuts, seeds, grains, herbs, spices, fish, seafood, olive oil, poultry, eggs, cheese, yogurt and wine.

16. Take your heart meds fully and faithfully! It’s the only way to get the full benefit of the treatments!

17. Stairs burn twice as many calories as walking. Regular stair climbing reduces your risk of premature death by 15%!

18. The quantified self. Keep moving! Steps per day: Very active >10,000, active >7500, sedentary <5000.

19. Fish eaters have less heart disease! Think about fish as a first choice when eating out- let somebody else do the cooking!

20. Did you know that people who are optimistic have less heart disease? See the bright side- it is truly good for your heart!

21. If you snore, tell your doctor. Snoring can be treated, and could signal risks for your blood pressure and heart rhythm.

22. Want to really know your risk of heart attack? Get a calcium scan of your heart. Accurate, safe, and costs less than dinner for 2!

23. Do you know CPR? Simple! Learn it here and double somebody’s chance of surviving cardiac arrest.

24. Ditch the soda and energy drinks. Please.

25. Coffee lover? For your heart’s sake, it is OK! (But, skip the donut!)

26. Like music? So does your heart! Music listening lowers your heart rate, and blood pressure!

27. Are statin cholesterol drugs safe? For most patients, yes! Unfortunately, over the counter supplements aren’t very helpful.

28. Heart attack or stroke symptoms? Don’t delay! Call 911 immediately. Minutes matter to save lives!

29. Taking vitamins or other supplements for heart disease risk? Be careful- few have little, if any, proven benefit.

Have any questions?

We are here to help! Contact us for more information about heart health or to schedule an appointment. Call us at 202-877-3627.

Subscribe to Blog

Get health tips and the latest news in your inbox.