Luck of the Genetic Draw: Hypertrophic Cardiomyopathy (HCM)

Dr. Naidu photo #2

 

Health Power Interviews Dr. Srihari Naidu, nationally recognized interventional cardiologist and Director of the Hypertrophic Cardiomyopathy Program at Westchester Medical Center, NY.

Although a person can eat right, keep their weight under control, and work out regularly, which is considered a healthy lifestyle, it may not be enough to protect him or her from a heart disease related to the make up in their genes.  Hypertrophic cardiomyopathy, or HCM, is an example, which we are going to discuss today.

Health Power: Dr. Naidu, what is Hypertrophic Cardiomyopathy, or HCM?

Dr. Naidu: HCM is a problem with the heart muscle.  Unlike other heart diseases, which may have a problem with the arteries of the heart, which may cause you to have a heart attack, or the electrical system requiring a pacemaker, HCM is a problem with the heart muscle itself. It is a genetic disease that runs in families (has a genetic connection).

This condition is a leading cause of sudden death when it occurs in young people. Basically, the muscle is pre-programmed to get thicker and thicker as time goes by. It happens very slowly and progressively, over 30 or 40 years and can lead to a series of problems.  In young people, HCM can lead to sudden cardiac death and arrhythmia (irregular heart rate), and these are cases of these young healthy athletes who are dying on the field, which is so traumatic for our society. 

Most people don’t have that problem thankfully, and they can go on to live productive lives and eventually have symptoms that are typical of heart failure, such as shortness of breath, light headed, palpitations (fast heart rate), chest pain, or generalized fatigue. Over time, these symptoms may cause serious illness.

Health Power: How common is HCM?

Dr. Naidu: It’s very common. It occurs in about 1 in 500 people regardless of race, gender, ethnicity, and geography. It is far more common than other diseases, such as, multiple sclerosis, that we often hear about, and occurs in 1 in 700 people.

The problem is that it’s often hard to tell who has it because affected people can look very well on the outside, and even the heart itself can be consistent with normal functioning and normal athletic ability for some time, so only 15% of those who have it are diagnosed.  We are trying to find the other 85% of people who are at risk of developing heart failure or worse symptoms over time.

Health Power: Tell us about the symptoms. . . how is HCM diagnosed?

Dr. Naidu: The symptoms can be pretty vague at times. Initially they can be fatigue, shortness of breath, and just sort of slowing down, but as time goes by, there are certain symptoms that are more classic and more worrisome, such as, rapid heart beats or palpitations, dizziness, light headed and certainly, possibly are passing out. One of the classic signs of HCM on physical examination is if the doctor identifies a person having a heart murmur (sound) and he or  she can’t tell you why.

All those symptoms and signs plus a sort of heightened awareness and suspicion, would lead one to get an EKG (electrocardiogram) and then an ultrasound or an echocardiogram of the heart.  Nowadays, fortunately there is more awareness even among our own field of cardiologists, many of whom used to miss this diagnose. More cardiologists now know that they have to look more carefully at the heart muscle itself on echocardiograms and really, that it is where HCM is diagnosed.

Health Power: How do you engage with your doctor in a conversation about HCM?

Dr. Naidu: We need to empower patients, because they are the ones living with these symptoms.  It is true that often the symptoms are vague, often they may be nothing, but if they are having symptoms and are concerned about it, then they should see their primary care provider (PCP), or doctor.  You can tell your PCP   that you heard or read information about HCM and ask him or her to refer you to a cardiologist, where you can get a full examination.

The PCP will do a physical exam and ask you about your symptoms. He or she may be just as concerned as you are or even more concerned, prompting your receiving an echocardiogram from a cardiologist to get the diagnosis.

Health Power:  When one hears the term “heart muscle”, one thinks it has to be worked out or conditioned. How is HCM treated and can it be cured?

Dr. Naidu: The heart muscle does not want to be exercised, and HCM is not a disease where exercise brings it on. It really is programmed that the heart is getting thicker and thicker on its own, and not due to exercise itself.

In fact, when the heart becomes thicker, it actually functions less. It is different from other muscles in the body, where if it is thicker, it looks better, acts better, behaves better, and functions better. With HCM, the heart is actually decreasing its functioning level as it gets thicker.

The way you treat it is first, diagnose it and then you treat the symptoms.  Unfortunately, there is no cure for the disease, so it’s just a matter of medication to control the symptoms and hopefully decrease its progression.

There are some new drugs coming in the pipeline. There’s a company called MyoKardia, that has a new drug in clinical trials, that we hope to be out soon, but it can’t really cure the condition. There are other treatments if it gets really bad and if there is significant heart failure symptoms.  There are some open heart surgeries that can be done such as a procedure that we do a lot here at Westchester Medical Center, called alcohol septal ablation (a minimally invasive procedure that reduces the proportion of tissue blocking the blood flow due to thickening of the heart muscles. Some of the abnormally thickened, or damaged, tissue dies and is replaced by thinner scar tissue, thus restoring more blood flow from the heart.)  However, since there is no cure, for the time being treatment is usually with medications for the symptoms.

Health Power:  What help or resources are available for patients and their families?

Dr. Naidu: Fortunately, we are living in a time that awareness is increasing and there are various websites available. One such resource is the National HCM Association at http://www.4hcm.org and another resource directly for patients is an App called “HCM Care”, which was put together by the company MyoKardia and Duke University.  Finally, one can contact the  Westchester HCM Program at www.westchestermedicalcenter.com.

 

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