Diagnosis

A doctor uses a stethoscope to listen to a person's heart An exam at Mayo Clinic

A doctor listens to a person's heart at Mayo Clinic.

Your doctor will examine you and ask questions about your signs, symptoms, and medical and family history.

Tests

Your doctor will likely order tests to diagnose hypertrophic cardiomyopathy (HCM) or rule out other conditions that can cause similar symptoms.

  • Echocardiogram. An echocardiogram is commonly used to diagnose hypertrophic cardiomyopathy. This test uses sound waves (ultrasound) to see if your heart's muscle is abnormally thick. It also shows how well your heart's chambers and valves are pumping blood.

    Sometimes, an echocardiogram is done while you exercise, usually on a treadmill. This is called an exercise stress test. Treadmill stress tests are commonly used to diagnose people with hypertrophic cardiomyopathy.

  • Electrocardiogram (ECG or EKG). Sensors (electrodes) attached to adhesive pads are placed on your chest and sometimes legs. They measure electrical signals from your heart. An ECG can show abnormal heart rhythms and signs of heart thickening. In some cases, a portable ECG, called a Holter monitor, is needed. This device records your heart's activity continuously over one to two days.
  • Cardiac MRI. A cardiac MRI uses powerful magnets and radio waves to create images of your heart. It gives your doctor information about your heart muscle and shows how your heart and heart valves work. This test is often done with an echocardiogram.

Treatment

The goal of hypertrophic cardiomyopathy treatment is to relieve symptoms and prevent sudden cardiac death in people at high risk. Your specific treatment depends on the severity of your symptoms. Together, you and your doctor will discuss the most appropriate treatment for your condition.

Medications

Medications can help reduce how strong the heart muscle squeezes and slow the heart rate so that the heart can pump blood better. Medications to treat hypertrophic cardiomyopathy and its symptoms may include:

  • Beta blockers such as metoprolol (Lopressor, Toprol-XL), propranolol (Inderal, Innopran XL) or atenolol (Tenormin)
  • Calcium channel blockers such as verapamil (Verelan, Calan SR,) or diltiazem (Cardizem, Tiazac)
  • Heart rhythm drugs such as amiodarone (Pacerone) or disopyramide (Norpace)
  • Blood thinners such as warfarin (Coumadin, Jantoven), dabigatran (Pradaxa), rivaroxaban (Xarelto) or apixaban (Eliquis) to prevent blood clots if you have atrial fibrillation

Surgeries or other procedures

Several different surgeries or procedures are available to treat cardiomyopathy or its symptoms. They range from open-heart surgery to implantation of a device to control your heart rhythm.

  • Septal myectomy. This open-heart surgery may be recommended if medications do not improve your symptoms. It involves removing part of the thickened, overgrown wall (septum) between the heart chambers. Septal myectomy helps improve blood flow out of the heart and reduces backward flow of blood through the mitral valve (mitral regurgitation).

    The surgery may be done using different approaches, depending on the location of the thickened heart muscle. In one type, called apical myectomy, surgeons remove thickened heart muscle from near the tip of the heart. Sometimes the mitral valve is repaired at the same time.

  • Septal ablation. This procedure destroys the thickened heart muscle with alcohol. The alcohol is injected through a long, thin tube (catheter) into the artery supplying blood to that area. Possible complications include disruption of the heart's electrical system (heart block), which requires implantation of a pacemaker.
  • Implantable cardioverter-defibrillator (ICD). An ICD is a small device that continuously monitors your heartbeat. It's implanted in your chest like a pacemaker. If a life-threatening arrhythmia occurs, the ICD delivers precisely calibrated electrical shocks to restore a normal heart rhythm. ICD has been shown to help prevent sudden cardiac death, which occurs in a small number of people with hypertrophic cardiomyopathy.

Hypertrophic cardiomyopathy and treatment options

Steve R. Ommen: The hypertrophic cardiomyopathy is a condition that has been under-diagnosed and overly feared throughout the world. In the United States alone, there are over a half a million people that have hypertrophic cardiomyopathy, many of whom are completely asymptomatic and unaware of their diagnosis. Some people can die suddenly. Sudden cardiac death occurs randomly without warning.

Hartzell V. Schaff: Over 2/3 of the patients will have obstruction. And the obstruction to the left ventricular outflow tract is an indication for operation in patients that have symptoms. So we know now that 2/3 of the patients with hypertrophic cardiomyopathy and obstruction are candidates for surgery.

Steve R. Ommen: Hypertrophic cardiomyopathy is the most common inherited cardiomyopathy or heart muscle disease. People are born with the genetics for it, but the hypertrophy doesn't appear to start developing until adolescence, growth spurts, or beyond. It is possible for infants to born with thick heart muscles, but that's really quite rare and usually more severe expressions of the disease. And it's also been described as not coming on until people were in their fifth or sixth decade of life. So really, the onset can be at any time of life. And certainly the symptoms can occur throughout life.

Hartzell V. Schaff: The common symptoms that patients have when they have obstructive hypertrophic cardiomyopathy are shortness of breath, angina-like chest pain and syncope. And unfortunately, some of these symptoms develop so slowly and over such a long time that the patients don't really understand how limited they are.

Steve R. Ommen: For patients who have symptoms due to hypertrophic cardiomyopathy, the first line of therapy is always to use medical management, medications. Usually, that's adding specific medications, but sometimes patients are on medications that can make their situation worse. And so some of the most effective therapy is removing the wrong agents, and then perhaps having to add in the right agents to help them with their symptoms down stream.

For patients who don't respond to those medical changes, or for whom those medications caused side effects that are intolerable, then that's when we move to things like surgical myectomy, which can more definitively relieve their symptoms.

Hartzell V. Schaff: The patients who are referred for surgery almost always have either failed medical treatment or have side effects from the medicines that limit them just as much as the symptoms from hypertrophic cardiomyopathy. So operation to relieve outflow tract obstruction is to relieve the symptoms. And in some patients, to allow them to get off of the medications that are having unwanted side effects.

Steve R. Ommen: Surgical myectomy has been a very successful operation for many of our patients. However, it is not utilized as much as it maybe could be in part owing to prior perceptions about increased risk with the operation, lack of universal availability of surgeons who can do it. But in the hands of expert centers, the complication rates are very low and our success rates are very high.

Hartzell V. Schaff: We now do a more extensive septal myectomy that extends towards the apex of the heart. And we've learned over the years that it's this distal portion of myectomy that's the most important in terms of relieving symptoms. The few patients who have had a second operation, who have been referred to us after having an operation that was unsuccessful, we found that the myectomy was not carried far enough into the ventricle. It's really not a regrowth of muscle. It's just an inadequate initial operation.

Steve R. Ommen: With surgical myectomy, the surgeon removes a portion of the hypertrophied septum, which is narrowing the path of blood, out of the heart. By doing this, it changes the direction the blood flows through the ventricle. It allows the mitral valve to function normally. And allows blood to leave the heart without increasing pressures or increasing forces. This muscle doesn't regrow over time. It is a permanent fix.

Hartzell V. Schaff: We found that it's rarely necessary to do something to the mitral valve. And the hazard with doing something to the mitral valve, where it turns out to be unnecessary, is there is a chance of injury. So we would prefer to do a septal myectomy, come off bypass, assess the mitral valve with an echocardiogram during surgery, before then addressing the mitral valve if there is residual regurgitation.

We can tell if the mitral regurgitation is relieved immediately after the myectomy once the aorta is closed and the heart is restarted. The echocardiogram is done in the operating room and we know right away whether the mitral regurgitation has been relieved. An operation is available for some patients that have non-obstructive hypertrophic cardiomyopathy. And these are patients with the apical distribution of hypertrophy.

Some of those patients have diastolic heart failure related to very small ventricular cavities. And in these patients, doing a transapical myectomy to enlarge the ventricle can improve their symptoms of heart failure.

Steve R. Ommen: While we see great results from the surgical myectomy as performed now, it is still something that should only be performed at true centers of excellence. Recent data that have come out have suggested that at low, medium, and even quote unquote "high volume" centers, there is a gradient of mortality, meaning it's highest at the low volume centers and lowest at the high volume centers.

But even those so-called high volume centers have mortality rates that are dramatically higher than what is reported from the true expert centers. And this is a procedure that should be done by those who are very familiar with this procedure, and doing a lot of them.

Hartzell V. Schaff: At Mayo Clinic, we've done over 3,000 operations for hypertrophic cardiomyopathy. We do 200 to 250 operations each year. The mortality for the procedure is less than 1%, especially for patients who are otherwise healthy.

Steve R. Ommen: One of the biggest parts of every interaction that I have with patients is helping them understand what their individual risk for sudden cardiac death might be, and whether they might consider having an implantable defibrillator. Our patients who have had surgery have a lower rate of sudden cardiac death and a lower rate for their defibrillators to discharge among those who have had them.

Hartzell V. Schaff: One of the things we've learned after doing septal myectomy is that actually the incidence of ventricular arrhythmia seems to be reduced. And this is shown in studies that look at defibrillator discharges and rates of sudden death.

Steve R. Ommen: The inheritance pattern of hypertrophic cardiomyopathy is autosomal dominant, which means each of the children of a patient with HCM has a 50/50 chance of inheriting this disease. We do recommend screening for all first-degree relatives, which is either genetic testing or echocardiographic-based surveillance. When a family has chosen to use echocardiography as their screening tool, we recommend that adult first-degree relatives get screened every five years. First-degree relatives who are adolescents or athletes, we usually screen every 12 to 18 months.

Hartzell V. Schaff: Septal myectomy cures the symptoms of hypertrophic cardiomyopathy when it relieves the obstruction. But of course, patients still have hypertrophic cardiomyopathy, still need to be followed by their physician for the other problems related to hypertrophic cardiomyopathy. But hopefully, are relieved of the shortness of breath, chest pain, or light-headedness that leads to the operation.

Clinical trials

Explore Mayo Clinic studies testing new treatments, interventions and tests as a means to prevent, detect, treat or manage this disease.

Lifestyle and home remedies

Lifestyle changes can reduce your risk of complications related to hypertrophic cardiomyopathy. Your doctor may recommend lifestyle changes, including:

  • Using caution when playing sports. Competitive sports are generally not recommended for people with hypertrophic cardiomyopathy, with the possible exception of some low-intensity sports. You may be able to participate in low- to moderate-intensity exercise as part of a healthy lifestyle. Discuss specific recommendations with your doctor.
  • Eating a healthy diet. A healthy diet is an important part of maintaining your heart health.
  • Maintaining a healthy weight. Maintaining a healthy weight will prevent excessive stress on your heart and reduce health risks associated with surgery or other procedures.
  • Reducing alcohol use. If you have symptoms or a history of rhythms provoked by alcohol, ask your doctor for guidance about safe levels of alcohol use. Drinking too much alcohol can trigger irregular heart rhythms and can lead to increased blockage of blood flow in your heart.
  • Taking your medications. Make sure to take your medications as prescribed.
  • Having regular medical appointments. Your doctor may recommend regular follow-up appointments to evaluate your condition. Let your doctor know if you have any new or worse symptoms.

Pregnancy

Women who have hypertrophic cardiomyopathy can generally have normal pregnancies. However, if you have hypertrophic cardiomyopathy, your doctor may recommend that you see a doctor experienced in caring for women with high-risk conditions during your pregnancy.

Coping and support

Being diagnosed with hypertrophic cardiomyopathy can cause a range of difficult emotions. Like many people with this condition, you may experience feelings of grief, fear and anger. These responses are appropriate to the lifestyle changes that come with your diagnosis.

To cope with your condition:

  • Reduce your stress. Find ways to reduce your stress.
  • Get support. Get support from your friends and family.
  • Follow lifestyle changes your doctor recommends. Making healthy lifestyle changes, such as eating a healthy diet and maintaining a healthy weight, can help you cope with living with your condition.

Preparing for your appointment

You may be referred to a doctor trained in diagnosing and treating heart conditions (cardiologist). Here's some information to help you prepare for your appointment.

What you can do

  • Find out if you need to follow any pre-appointment restrictions, such as changing your activity level or your diet.
  • Write down your symptoms and how long you've had them.
  • Take a list of all your medications, vitamins or supplements.
  • Write down your key medical information, including other diagnosed conditions.
  • Write down key personal information, including any recent changes or stressors in your life.
  • Write down questions to ask your doctor.

Questions to ask your doctor

  • What's the most likely cause of my symptoms?
  • What kinds of tests do I need?
  • What treatments can help?
  • What risks does my heart condition create?
  • How often will I need follow-up appointments?
  • Do I need to restrict my activities?
  • Should my children or other first-degree relatives be screened for this condition, and should I meet with a genetic counselor?
  • How will other conditions that I have or medications I take affect my heart problem?

In addition to the questions that you've prepared to ask your doctor, don't hesitate to ask questions during your appointment.

What to expect from your doctor

Your doctor is likely to ask you a number of questions. Being ready to answer them may make time to go over points you want to spend more time on. You may be asked:

  • When did you begin experiencing symptoms, and how severe are they?
  • Have your symptoms changed over time? If so, how?
  • Does exercise or physical exertion make your symptoms worse?
  • Have you ever fainted?
  • Do you have a family history of heart disease?

What you can do in the meantime

Before your appointment, ask your family members if any relatives have been diagnosed with hypertrophic cardiomyopathy or have experienced unexplained, sudden death. It will help your doctor to know as many details as possible about your family medical history.

If exercise makes your symptoms worse, avoid strenuous exercise until you have seen your doctor and received specific exercise recommendations.

Hypertrophic cardiomyopathy care at Mayo Clinic

June 02, 2020
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