What Is Hypertrophic Cardiomyopathy?

A Common Genetic Heart Disorder

Doctor performing heart checkup on patient

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Hypertrophic cardiomyopathy (HCM) is a relatively common condition in which the heart muscle becomes thick and unable to pump blood normally. Most people with HCM do not have symptoms or find the condition interferes with with daily life. Those who have symptomatic HCM typically experience shortness of breath (dyspnea), chest pain, and abnormal heart rhythms. Imaging tests are required to detect hypertrophic cardiomyopathy. Once diagnosed, it can be managed (but not cured) with lifestyle measures and medication to strengthen and protect the heart. In rare instances, there is some danger of heart failure and even sudden death.

HCM is more common in males than females and typically is not discovered until a person is in their 30s, although symptoms can show up in anyone, at any age. An average of one out of every 485 people in the general population has HCM.

Symptoms

The majority of people who have hypertrophic cardiomyopathy do not experience symptoms. Those who do are likely to experience them as they get older.

Potential symptoms of HCM include:

Complications

In HCM, the muscular walls of the ventricles (the lower chambers of the heart) become abnormally thick—a condition called hypertrophy. This causes the heart muscle to function abnormally. If severe, the hypertrophy can lead to heart failure and cardiac arrhythmias

If hypertrophy becomes extreme, it can distort the ventricles, which can interfere with the function of the mitral valve and can cause an obstruction below the aortic valve, disrupting the flow of blood through the heart. Hypertrophic cardiomyopathy is linked to a number of cardiac health issues, most of which can lead to heart failure.

Diastolic Dysfunction

Diastolic dysfunction refers to an abnormal stiffness of the ventricular muscle, which makes it more difficult for the ventricles to fill with blood in between each beat. In HCM, the hypertrophy itself produces at least some diastolic dysfunction. If severe, diastolic dysfunction can lead to heart failure, fatigue, and severe shortness of breath. Even relatively mild diastolic dysfunction makes it more difficult for patients with HCM to tolerate cardiac arrhythmias, especially atrial fibrillation.

Left Ventricular Outflow Obstruction (LVOT)

In LVOT, thickening of the heart muscle just below the aortic valve creates a partial obstruction known as subvalvular stenosis that interferes with the ability of the left ventricle to eject blood with each heartbeat. This condition is referred to as

Mitral Regurgitation

In mitral regurgitation, the mitral valve fails to close normally when the left ventricle beats, allowing blood to flow backward (“regurgitate”) into the left atrium. In HCM this occurs due to a distortion in the way the ventricle contracts.

Ischemia of the Heart Muscle

With ischemia (oxygen deprivation) that occurs as a result of hypertrophic cardiomyopathy, the heart becomes so thick that some portions of the muscle do not receive enough blood, even when the coronary arteries themselves are completely normal. When this happens, angina can occur (especially with exertion) and a myocardial infarction (death of heart muscle) is even possible.

Sudden death is the most serious potential complication of HCM. It usually is due to ventricular tachycardia or ventricular fibrillation.

Causes

This condition is caused by one of several genetic mutation that causes the heart muscle to become thick and stiff.

HCM can be either obstructive or nonobstructive. In obstructive HCM, the wall (septum) between the two bottom chambers of the heart thickens. The walls of the pumping chamber can also become stiff, blocking or reducing blood flow from the left ventricle to the aorta. Most people with HCM have this type.

In nonobstructive HCM, the heart’s main pumping chamber stiffens. This limits how much blood the ventricle can take in and pump out, but blood flow is not blocked. 

In almost half of patients with HCM, the genetic disorder is not inherited at all but occurs as a spontaneous gene mutation—in which case, the parents and siblings of the patient will not be at elevated risk for HCM. However, this “new” mutation can be passed on to the next generation. 

HCM is more common in males than females. People often discover this condition in their 30s, although anyone, from newborns to the elderly, can show symptoms. Studies suggest an average of one of every 485 people in the general population has HCM.

Diagnosis

There are several ways this condition can be diagnosed:

  • Magnetic resonance imaging (MRI) of the heart is considered the best method of diagnosing HCM. Using powerful magnets and radio waves, the MRI scanner creates images of the heart muscle, allowing doctors to see how well it functions.
  • Echocardiogram testing uses sound waves (ultrasound) to detect abnormalities in the thickness of the heart and to check whether the chambers and valves are pumping blood. Echocardiograms are sometimes performed while a person is walking or running on a treadmill—what is known as a "stress test."
  • Electrocardiogram (ECG) can reveal left ventricular hypertrophy. Adhesive pads attached to electrodes are placed on the heart and sometimes the legs to 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 the heart's activity continuously over one to two days. This test is sometimes used as a screening tool to look for HCM in young athletes.

Because HCM is a genetic condition, family members of anyone diagnosed with it should undergo an ECG and an echocardiogram.

Treatment

Although HCM cannot be cured, in most cases it can be controlled. However, the management of HCM can become quite complex, and anyone who has symptoms due to HCM should be followed by a cardiologist.

Among the treatments used to manage hypertrophic cardiomyopathy are:

  • Beta blockers—medications that decrease heart rate and reduce the heart's workload
  • Calcium blockers—medications shown to reduce symptoms and improve exercise tolerance in people with HCM
  • Anti-arrhythmic medicines, such as amiodarone, to control the heart's rhythm
  • Anti-coagulants, like heparin or warfarin to reduce the probability of clots, which can form as a result of arrhythmias
  • Alcohol septal ablation, a procedure in which ethanol (a type of alcohol) is injected through a tube into the small artery that supplies blood to the thickened area of heart muscle, causing cells there to die and the tissue to shrink.
  • Septal myectomy, an open-heart surgery that removes part of the thickened septum that’s bulging into the left ventricle. It’s generally considered only for people with obstructive HCM and severe symptoms who are younger or whose medications are not working well.
  • An implantable cardioverter defibrillator (ICD), a pacemaker, or a cardiac resynchronization therapy device, if medications don't help 
  • A heart transplant —In HCM patients with advanced, end-stage disease this procedure can replace a person’s diseased heart with a healthy donor heart.

HCM is a common cause of sudden death in young athletes. Anyone with HCM should contact their physician prior to extreme exertion or competitive exercise.For patients with HCM who have a high risk of sudden death, an implantable defibrillator should be strongly considered.

Living with HCM

If you've been diagnosed with HCM, you may have to make a few lifestyle adjustments, depending on the severity of the disease.

  • Avoid strenuous exercise, especially intense, competitive sports and heavy weight lifting.
  • Stay well-hydrated, as dehydration can exacerbate HCM.
  • Reduce your alcohol consumption, as drinking more than the recommended amount of alcohol can damage your heart and lead to high blood pressure.
  • Monitor your weight changes: A sudden weight gain could be caused by fluid retention caused by medications you may be taking.
  • Get regular check-ups to monitor your condition.
  • Avoid having sex after a heavy meal, to reduce the chance of angina. You should also try not to be too energetic at the start of your sexual activity. 
  • Give up smoking, which increases your likelihood of developing coronary artery disease.

A Word from Verywell

A diagnosis of HCM does not have to stop you from living your life. In most cases, HCM is a relatively benign disease, with approximately two-thirds of patients experiencing a normal life span without significant problems. If you are aware of the disease and manage it carefully with the help of your doctor, there's nothing to prevent you from living a full and active life.

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  1. Marian AJ, Braunwald E. Hypertrophic cardiomyopathy: Genetics, pathogenesis, clinical manifestations, diagnosis, and therapy. Circ Res. 2017;121(7):749-770. doi:10.1161/CIRCRESAHA.117.311059

  2. Jordà P, García-Álvarez A. Hypertrophic cardiomyopathy: Sudden cardiac death risk stratification in adults. Glob Cardiol Sci Pract. 2018;2018(3):25. doi:10.21542/gcsp.2018.25

  3. Harmon KG, et al. Incidence, cause, and comparative frequency of sudden cardiac death in National Collegiate Athletic Association athletes: a decade in review. Circulation. 2015 Jul 7;132(1):10-9. doi:10.1161/CIRCULATIONAHA.115.015431

  4. American Heart Association. Hypertrophic cardiomyopathy. Updated April 17, 2020.

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