HYPERTROPHIC CARDIOMYOPATHY
Your heart is a muscle. Inside of it, there are four spaces, or chambers. If you have hypertrophic (hi-per-tro-fik) cardiomyopathy or HCM, your heart muscle gets thicker, making these chambers smaller. This may make it harder for your heart to pump blood out to your body.
If untreated or poorly managed, hypertrophic cardiomyopathy can cause other serious conditions such as heart failure, dangerous heart rhythms, and even sudden death. So finding it early is key.
HCM is usually passed down in families (inherited). If you or a family member has been diagnosed with HCM, be sure to talk with your clinician about genetic testing and screening.
Also, it’s important to remember that you’re not alone. HCM is the most common genetic heart disease in the U.S. It affects at least 1 in 500 adults. But even more people may have it and not know they do.
As with any heart condition, it is important to take good care of yourself and follow your care team’s recommendations. Use this condition center to learn more about HCM.
In most cases, hypertrophic cardiomyopathy (HCM) is an inherited condition passed down in families. If you have HCM, you likely were born with a gene mutation that changes the “instruction manual” telling cells what to do. This change makes the heart muscle become too thick.
“Hypertrophy” means to thicken. This thickening can make it harder for the heart to relax and fill with blood and pump oxygen-rich blood to the body.
HCM can be difficult to diagnose, especially as many people don’t have symptoms. When they do, it can be mistaken for other conditions, including heart valve disease—mitral valve disorders, aortic stenosis—exercise-induced asthma or anxiety.
Early diagnosis is important to avoid complications, including life-threatening heart rhythms and sudden death. Tragically, HCM is one of the most common reasons for sudden deaths among young people and athletes who didn’t know they had the condition.
HCM usually affects the main pumping chamber of the heart (left ventricle) and the muscle wall that separates the left and right sides of the heart (septum). If the muscle wall becomes thicker than normal, it can bulge into the lower chamber of the heart.
This bulge can disrupt the flow of blood to the main artery that carries blood to your body (aorta). If this happens, you may feel very tired or have a hard time catching your breath.
When do these changes happen? It varies. The thickening of the heart muscle often coincides with growth spurts in puberty as someone physically matures, and then it levels off. But many patients won’t notice anything. When they do, it might not be until middle age. Still, its presence can be deadly. A sudden death may be how it is found.
The good news is that with ongoing care, many people with HCM can live a long life.
Many people with hypertrophic cardiomyopathy (HCM) have no or few symptoms. As a result, the condition may go unnoticed for a while:
- Until a doctor hears a heart murmur during an exam or sees something on a test, most commonly an electrocardiogram, or
- Because a close family member (parent or sibling) is diagnosed with it or known to have died suddenly at a young age.
How someone with HCM might feel varies widely, even among family members. It will depend on several factors. For example, how much thickening there is to the heart muscle, and whether it is slowing or blocking blood flow to the body.
The most common signs and symptoms are:
- Feeling short of breath, especially when exercising or being active
- Dizziness or fainting
- Chest pain
- Heart palpitations or fluttering of the heart
- Being overly tired or having little energy to do usual activities
In many cases, symptoms may start only with exercise or when exerting oneself. For example, people often notice that an activity they used to do—jogging, hiking, or even climbing stairs—seems more difficult and leaves them short of breath. In some cases, they may even faint.
How does physical activity play a role in triggering symptoms? Normally, with exercise your heart pumps faster and stronger. It gets your blood pumping and improves circulation.
But because a thick heart muscle may already be blocking blood flow to the body, the body’s normal response to exercise can make the blockage worse and further reduce blood flow to the body. Being dehydrated also can make symptoms worse.
Although rare, HCM can cause life-threatening heart rhythms and sudden death if the condition isn’t found or well managed. Other complications can also develop. Early diagnosis and treatment are important.
If you have a parent with the condition, you have a 50/50 chance of inheriting it. In the same way, if you have it, each of your children has a 50/50 chance of being born with this mutation.
Because it’s a genetic condition, it’s a good idea to talk with your health care team about your family history. For example, have any family members—especially parents or siblings—died suddenly without a clear cause?
Also, ask about genetic counseling and screening. Screening can involve genetic testing or imaging tests or both.
- Your parent, sibling or child has it
- You have certain symptoms
- Your clinician hears a heart murmur when listening to your heart
Imaging and other tests can show signs that the heart muscle is unusually thick. These tests, in particular an echocardiogram, are used to confirm a diagnosis.
These tests are usually ordered because of family history of the disease or to rule out other diseases, including valve problems.
Common tests include:
- Echocardiogram: This test uses sound waves (ultrasound) to look at the structure of your heart. It can show if your heart muscle is too thick. It also shows how well the chambers and valves in your heart are pumping.
- Electrocardiogram (ECG): This test uses sensors placed on your chest and sometimes legs to record the electrical activity of the heart. It can detect irregular heartbeats and signs your heart muscle is enlarged. You may be given a Holter or wireless monitor to wear for a day or more to measure electrical signals from your heart over a longer time.
- Exercise or stress testing: This test allows your doctor to see how your heart performs during activity (usually on a treadmill or exercise bike). Your doctor will watch your blood pressure, heart rate, how your heart beats and any symptoms you feel.
- Magnetic resonance imaging (MRI) of the heart: This test can detect a thickening of the left ventricular wall. It may help identify areas not seen in an echocardiogram.
In some cases, genetic testing may also be used to find out if you, your children, siblings or parents carry the gene mutation that causes HCM.
Your treatment plan will depend on several factors including:
- How much thickening you have in your heart muscle, and if it is obstructing or slowing blood flow leaving the heart
- How well your heart is pumping
- Your symptoms, such as any signs of heart failure or irregular heart rhythms
- Your risk of sudden cardiac death
- How the condition is affecting your life
- Your preferences and goals for care
Treatment may include a combination of medications, procedures, lifestyle changes, and ongoing follow-up visits and tests. Your care team will talk to you about the testing and treatment options, including the risks and benefits.
The overall goal of treatment will be to:
- Ease any symptoms for example, chest pain, heart failure, palpitations
- Prevent or lessen complications, such as blood clots, heart failure, or dangerous heart rhythms that can lead to sudden cardiac death
Treating other conditions that can affect your heart is also important—high blood pressure, high cholesterol, diabetes, smoking, sleep apnea, carrying too much weight. These all can make HCM worse.
Shared Decision-Making
With HCM, screening and treatment decisions are not always clear cut. What might be the right choice for one person may not be the one for another. Shared decision-making can help you work with your care team to find the right option for you.
In shared decision-making, you should speak up and let your care team know what is most important to you. With your values and goals in mind, you and your care team will review your treatment options, and the risks and benefits of each.
Together you will personalize your care decisions.
It’s important to remember that if you have hypertrophic cardiomyopathy (HCM), you were born with it—you didn’t do anything wrong.
Still it’s normal to worry. You may feel anger or disbelief at first. But if you start to notice that fears of having this genetic condition—and how it might affect your heart and health – keep you up at night or are causing a lot of distress, talk with your care team.
Finding ways to keep a positive outlook and manage stress with calming relaxation exercises also can help.
As with any health issues, you are your best advocate. If something doesn’t quite feel right or you’re feeling unusually down for an extended period, talk with your doctor or nurse.
The good news is that most people have no or minimal symptoms throughout their life and even for those with symptoms, most people with HCM can lead a normal life with treatment and follow-up.
Managing hypertrophic cardiomyopathy (HCM) is a team effort. You will likely be seen by several health care providers. It’s important to make sure everyone is on the same page and that your questions are answered.
Be sure to ask your health care team about your concerns, especially the following:
- When you or a parent, sister or brother who has HCM should be screened using either genetic testing or an imaging test
- Safe exercises and activities that should be avoided
- What signs and symptoms they would want to know about right away
- When to see a heart doctor with special training in HCM
- Finding support
Here are some other questions you might consider asking:
- How will having HCM affect my life?
- Can I still exercise?
- Is the thickening of my heart muscle affecting how my heart functions now?
- Mavacamten is now available for certain people with obstructive HCM. Is it an option for me? How does it work?
- Are there any medications that I should stop taking?
- How often will I have tests to see if my heart is OK?
- What cardiologist or center is expert in treating this condition?
- If I have a procedure done to remove part of the thickened heart muscle, will it grow back?
- When should I talk with my children or other family members about genetic testing or screening?
- What are the signs of worsening I should watch out for to suggest I need an adjustment in the treatment plan?
VISUAL AIDS
Hypertrophic Cardiomyopathy (HCM)
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