Dr. Patricia Yarberry Allen is a collaborative physician who writes a weekly “Medical Monday” column for Women’s Voices for Change.  (Search our archives for her posts, calling on the expertise of medical specialists, on topics from angiography to vulvar melanoma.)

February is American Heart Month. For this week’s post, Dr. Pat has asked cardiologist Timothy C. Dutta, Clinical Assistant Professor of Medicine at Weill Cornell Medical College, to answer the concerns of a woman whose male family members are highly prone to heart attack. What does that signify about her own risk?

Dear Dr. Pat:

My father, his father, three uncles, and three paternal first cousins all had heart attacks. In my grandfather’s and father’s generation, all the men smoked and drank. They did hard physical labor, but no other exercise. Every one of these men had his first heart attack before 55, and for most of them it was fatal. I have only three male first cousins, and they took the family history of heart attacks seriously. They never smoked; they drank in moderation, exercised, and were not overweight or overstressed. Yet all three of these men had evidence of narrowing of the coronary arteries in their 50s.  Because they had been so careful, they were able to have stents. Now in their late 60s, they are on cholesterol and high blood pressure medications and are doing well.

I had four female cousins who did not think heart disease would be a problem for them, since only the men in the family had been affected.  They did not exercise, were overweight, and their doctors didn’t do much except tell them to lose weight and exercise.  All four of these cousins had heart attacks, then open-heart surgery. Two have died in their early 60s and the remaining two are on lots of drugs and have limited quality of life.

I took a different path from that of my female cousins. I am fit and thin. I control the risky foods in my diet carefully.  My GP told me that at 50 I don’t have anything to worry about, since my blood pressure and cholesterol are normal.  Is there anything else I should have done to diagnose my risk factors for heart disease?

Jenny

Dr. Pat Responds:

 Dear Jenny:

I have asked Dr. Timothy Dutta, the cardiologist who is a member of the Women’s Voices for Change Medical Advisory Board, to discuss how to determine if a patient is at risk for heart attacks.  Heart disease is the No. 1 cause of death for women. Yet even in the 21st century, women are still told that they shouldn’t worry if their weight, activity, blood pressure, and cholesterol levels are normal enough—even when there is a family history of heart disease.  Your family history does indicate that there is a combination of lifestyle and genetic issues at work.  I would ask for a referral to a cardiologist who has an interest in the evaluation of women for heart attack risk.  Do continue to remain fit with daily aerobic exercise (even 20 minutes is great), diet and weight control, and management of stress. Patients often forget that often their lifestyle choices contribute greatly to both heart disease and other illnesses.  Prevention and early diagnosis of disease is the goal of medical care.  Congratulations on the choices you have made and the proactive questions you are asking.

Dr. Pat                    

Dr. Dutta Responds:

Dear Jenny,        

I feel as if the general public has an exceptional awareness of the major risk factors for coronary disease. Everyone seems to know that smoking, hypertension, high cholesterol, diabetes, and family history are major risk factors for a heart attack. In 2013, when new guidelines for both hypertension and cholesterol management were published, the change made national headlines for weeks. Months later, the guidelines are still being debated by both the scientific community and the general public. 

We have made tremendous strides in understanding and treating these risk factors, but to some extent we have been in a rut for decades, refining our treatment of these risk factors without discovering new ones. The unfortunate truth is that although these risk factors are major predictors of heart attack risk, we are all too well aware that many patients without the major risk factors still have heart attacks, and even many patients with the major risk factors do not have heart attacks. Why is it that the occasional patient can have a horrible lifestyle and live to be 100 years old, but another patient can run triathlons and still have a heart attack before age 40?

The most exciting frontier in heart attack prevention is genomics. Over the past 10 years, genome-wide studies of families with very strong heart attack history have identified about 25 locations on our genes that are associated with coronary disease. Some of these loci, as expected, seem to be connected with cholesterol disorders and hypertension disorders.  Other loci do not seem to be related to known risk factors.  It is possible that in just a few years we will identify entirely new causes for heart disease and reveal novel treatments for coronary artery disease. It is likely that even sooner we will be able to do a gene screen on patients to help know their risk and how aggressively to manage the traditional risk factors. A recent analysis found that, although it is expensive to do a genome study of a patient, the cost is comparable to the cost of a conventional workup for cardiovascular disease.

At this time, however, we don’t really know how to use these genetic tests. Unfortunately, we don’t know enough about the genetic tests to “risk stratify” a patient. A genetic screen on a patient who I suspect is high-risk can only confirm what is already suspected: that the patient is high-risk. If the genetic test actually showed that the patient had a low risk, most physicians are not yet likely to feel comfortable disregarding the traditional risk factors; it is to be hoped that that will change soon. We look forward to a time when we will have a better way to risk stratify a patient’s risk of heart disease years or decades before the patient manifests coronary disease.

For now, the state-of-the-art management, beyond  identifying  the major risk factors, is the use of imaging studies. Coronary calcium scores use CT scans to look for hardened plaque blocking the arteries, and CT angiography takes important diagnostic information a step further, using X-ray dye to give an outline of the coronary arteries. It provides a noninvasive image of the coronary arteries called a coronary angiogram.  It is the highest-resolution way to look at the coronary arteries non-invasively. These tests, however, are expensive, and use radiation. Another important limitation of these tests is that they can’t detect risk until the narrowing has already begun to occur and can be visualized. Another option that does not use radiation is carotid ultrasound, but there is debate about the usefulness of the  information from this test. We hope that genetic testing will become a practical tool in the next five to ten years and may, at some point, replace, or at least add to, the assessments we use today. We look forward to tests that will allow us to more accurately predict and guide treatment decades earlier for patients truly at risk.

Dr. Dutta