What Is Hypertrophic Cardiomyopathy?

Liubomyr Vorona / Getty Images

Medically reviewed by Christopher Lee, MD

Hypertrophic cardiomyopathy (HCM) is a rare condition that occurs when your heart muscle becomes abnormally thick. This condition develops due to a genetic change that affects your heart’s muscle proteins, which are critical in helping your heart function properly. In some cases, the thickened muscle can block the ventricles (the heart’s lower chambers), making it difficult for your heart to pump blood efficiently.

This thickening of the heart muscle can lead to a few key problems, like a lack of blood flow to your heart and heart valves that stop functioning as needed. As a result, you may experience symptoms like fatigue, shortness of breath, and chest pain, among others. In rare cases—particularly among young athletes—HCM can lead to sudden cardiac death, which is why understanding and managing this condition is so important.

Hypertrophic Cardiomyopathy Symptoms 

When HCM first develops, it’s possible that you don’t experience any symptoms at all. However, as the condition progresses and blood flow in the heart reduces, you may experience the following symptoms:

• Chest pain that worsens with physical activity
• Shortness of breath
• Fatigue
• Fainting
• Arrhythmias (or, an irregular heartbeat)
• Heart palpitations
• Dizziness
• Swelling in the ankles, feet, legs, and abdomen

Causes

This heart condition can run in families and you can inherit it through an “autosomal dominant” pattern, which means that there is about a 50% chance of a child inheriting the condition from a parent who has it. HCM typically occurs due to genetic mutations (or changes) in the genes that are responsible for making heart muscle proteins. These proteins play an important role in helping your heart contract and relax.

So far, scientists have identified several gene mutations that are linked to HCM. The specific mutation you have can determine the exact symptoms your experience and how thick your heart muscle can become.

Diagnosis

If you suspect you have HCM or have a family history of this condition, it’s important to see your healthcare provider for a thorough cardiac (heart) evaluation. During your appointment, your provider will ask about your medical history, learn about the symptoms you’re experiencing, and perform a physical exam. To confirm a diagnosis, your provider may also order one or more of the following tests:

• Electrocardiogram (ECG): Shows changes in your heart activity, such as alterations in your heart’s electrical patterns and specific heart waves that can suggest the presence of HCM
• Transthoracic echocardiogram (TTE): Uses ultrasound to create detailed images of your heart’s structure and pumping function to understand how well the heart valves are working and to measure the mass and wall thickness of your left ventricle
• Ambulatory ECG monitoring: Continuously monitors your heart activity, usually for 24 to 48 hours to assess the risk of dangerous heart rhythms
• Exercise stress testing: Involves exercising under medical supervision to evaluate how well your heart responds to physical stress

The above tests can usually tell your healthcare provider and cardiologist (a doctor who specializes in the heart) about your condition. But in some cases, they may need additional tests to confirm a diagnosis, such as:

• Cardiac catheterization: Examines the heart’s function, measures the extent of blood flow obstruction, and assesses the heart’s arteries
• Electrophysiological studies: Pinpoints the specific causes of any heart rhythm concerns
• Cardiac MRI: Creates detailed images of the heart to look for signs of damage, injury, tumor, or birth defects

How To Treat Hypertrophic Cardiomyopathy

The primary goals of treatment for HCM are to manage symptoms, halt or slow down the disease’s progression, and minimize the risk of potential complications. If you have HCM and are physically active, talk to your healthcare provider about if you need to alter your activity habits. They might advise you to avoid intense exercise, as scientists are still investigating the effects of vigorous exercise among people with HCM.

Should you experience symptoms of HCM, your healthcare provider may prescribe medications to help your heart contract and relax more effectively. These medications can also help relieve symptoms like chest pain and shortness of breath. Your provider may recommend medications that help regulate your heart’s rhythm or blood thinners to reduce the risk of blood clots.

There are several other treatment options for HCM, which may include:

• Alcohol septal ablation: Injects alcohol into a heart’s artery (blood vessel) to supply blood to the thickened heart muscle and destroy excess tissue around the heart
• Cardiac implantable electronic device (CIED): Inserts a device into your heart to help it function properly
• Septal myectomy: Uses open-heart surgery to remove thickened tissue to improve heart function and blood circulation for advanced cases of HCM
• Heart transplant: Replaces your heart with a donor’s heart in severe cases of HCM

Prevention

While you can’t prevent cardiomyopathy when it’s inherited, there are some things you can do to keep your heart as healthy as possible. Consider the following strategies:

• Regularly visit your healthcare provider for checkups
• Participate in moderate physical activity at least five days a week
• Incorporate heart-healthy foods into your diet, such as fruits, vegetables, lean proteins, and whole grains
• Take your prescribed medications exactly as directed
• Reduce stress by partaking in self-care interventions such as yoga, meditation, or therapy

Living With Hypertrophic Cardiomyopathy

Most people with HCM can expect a positive long-term outlook, with many living a normal lifespan without major restrictions or serious problems. However, some people with HCM may face potential complications, including heart failure and the rare but serious possibility of sudden death.

It’s important to note that the likelihood of these complications can differ from one person to another—even among members of the same family. Consult with your healthcare team so they can offer preventive care and appropriate treatments to help you better manage your condition.

Frequently Asked Questions

What is the life expectancy with hypertrophic cardiomyopathy?

Most people with hypertrophic cardiomyopathy can expect to live a normal lifespan without major restrictions. But a small percentage of people may experience an increased risk of heart failure and early death.

At what age does HCM happen?

Hypertrophic cardiomyopathy can develop at any stage in a person’s life. But, researchers also suggest that people who develop HCM before the age of 40 may experience more severe symptoms and a higher risk of complications.

Can you reverse HCM?

There is no guarantee this condition can be reversed or cured. However, it is possible to reduce the risk of complications through exercise, stress management, and taking your medications as directed.

Read the original article on Health.com.