17116 Hypertrophic Cardiomyopathy

Overview

Hypertrophic cardiomyopathy (HCM) is a condition where the heart muscle becomes abnormally thick. This thickening can make it harder for the heart to pump blood and can also affect the heart's electrical system, leading to abnormal heart rhythms.

About 1 in every 500 people has hypertrophic cardiomyopathy, though many may not know it because they have no symptoms.

Anyone can have HCM, but it is often diagnosed in teenagers and young adults. It can also be found later in life. If a parent has HCM, each child has a 50% chance of inheriting the genetic change.

Symptoms

Common symptoms

• Chest pain or discomfort
• Shortness of breath, especially with activity
• Palpitations (feeling like your heart is racing, skipping, or fluttering)
• Dizziness or light-headedness
• Fainting, particularly during or just after exercise
• Fatigue or feeling unusually tired

Symptoms in children

• Difficulty feeding or poor weight gain in babies
• Shortness of breath or becoming tired easily during play
• Fainting or near-fainting during exercise
• Palpitations or chest pain with activity

Symptoms in older adults

• Shortness of breath with everyday activity
• Chest pain or pressure, which may be mistaken for typical heart disease
• Palpitations or irregular heartbeats
• Dizziness or fainting, which may increase the risk of falls
• Leg swelling from fluid buildup

Causes

Main causes

• A change (mutation) in one of several genes that control heart muscle growth
• In rare cases, the condition may develop from other medical conditions such as high blood pressure, but the inherited form is far more common

Risk factors

• Having a parent, brother, sister, or child with hypertrophic cardiomyopathy
• A family history of early sudden cardiac death (before age 50)
• Certain genetic changes that are known to be passed down in families

When to see a doctor

See a doctor urgently if:

• If you faint, feel severe chest pain, or have a very fast or irregular heartbeat, seek medical help right away.
• If you have been diagnosed with HCM and have new symptoms like chest pain, fainting, or breathlessness, contact your doctor or go to urgent care.

Book a routine appointment if:

• If you have a first-degree relative (parent, sibling, or child) with HCM, ask about screening, even if you have no symptoms.
• If you have any symptoms such as chest pain, palpitations, or fainting, especially during activity, it is worth getting checked.
• If you already have HCM, keep up with regular follow-up appointments so your care plan can be adjusted as needed.

Diagnosis

Your doctor will ask about your symptoms, medical history, and family history. They will listen to your heart and may order a series of tests to look at the structure and function of your heart.

Tests that may be done

• Electrocardiogram (ECG) — a quick, painless test that records the heart's electrical activity
• Echocardiogram (echo) — an ultrasound of the heart that shows the thickness of the heart muscle and how well it pumps
• Cardiac MRI — a detailed imaging test that gives an even clearer picture of the heart muscle
• Exercise stress test — to see how your heart responds to exertion
• Genetic testing — a blood test that can find the gene change causing HCM, which can also help family members know their risk

What to expect at your appointment

The tests are non-invasive and usually done in an outpatient clinic or hospital. You may need more than one appointment. If HCM is found, your doctor will explain your results and help you create a plan for monitoring and care.

Treatment

There is no cure for HCM, but treatment can help control symptoms, prevent complications, and lower the risk of serious problems like abnormal heart rhythms. Your care plan will depend on your symptoms, the thickness of your heart muscle, and your overall health.

Self-care at home

• Follow your doctor's advice about which activities are safe for you. Some types of intense exercise may need to be avoided.
• Stay well hydrated, but ask your doctor if you need to limit fluids due to heart failure symptoms.
• Keep any scheduled check-ups and take all tests your doctor recommends.
• Tell your doctor about any new symptoms right away, especially fainting or chest pain.
• If you have a family member with HCM, encourage them to be checked too.

Medical treatments

Medications may be used to relax the heart muscle, slow the heart rate, or help control heart rhythm. In some cases, medications to lower blood pressure or prevent blood clots are prescribed. Your doctor will choose the approach that is safest for you based on your individual situation.

When is surgery considered?

If medication is not enough, some people may need a procedure to remove a small part of the thickened heart muscle (septal myectomy) to improve blood flow. Others may receive an implantable device, such as a pacemaker or defibrillator, to help manage heart rhythm or prevent sudden cardiac arrest.

Living with this condition

Living with HCM often means learning your body's limits. Most people can still work, travel, and enjoy hobbies, but you may need to avoid very strenuous exercise or competitive sports. Your doctor will help you understand what is safe for you.

Lifestyle tips

• Avoid dehydration, especially in hot weather or during exercise, because it can trigger symptoms.
• Limit or avoid alcohol and caffeine if they seem to cause palpitations.
• Do not smoke, and avoid recreational drugs, which can strain the heart.
• Get regular check-ups, and keep a list of your medications with you.
• Wear a medical alert bracelet or carry a card that says you have HCM.

Diet and exercise

A heart-healthy diet with vegetables, fruits, whole grains, and lean proteins is generally recommended. You may not need to restrict salt unless you have heart failure. For exercise, your doctor will give specific guidance: some people can walk, swim, or do light exercise, while competitive or very intense exercise is often discouraged. Always get personalised advice before starting a new activity.

Mental health and emotional wellbeing

Living with a heart condition can cause anxiety, especially about symptoms or risks. It is normal to feel worried. Talking to a counsellor, joining a support group, and staying connected with loved ones can help. If you struggle with low mood or constant worry, ask your healthcare team for support.

Prevention

Because HCM is usually inherited, it cannot be prevented. However, the risks of complications can be reduced through regular monitoring, avoiding triggers like dehydration and extreme exertion, and following your treatment plan.

Screening programmes

If you have a family member with HCM, ask your doctor about screening with an echocardiogram and ECG. Family members may also consider genetic testing. Screening can identify HCM before symptoms appear, allowing earlier management.

Complications

If left untreated

• Abnormal heart rhythms (arrhythmias), including atrial fibrillation
• Heart failure, where the heart cannot pump enough blood for the body's needs
• Sudden cardiac arrest, which can be life-threatening
• Higher risk of strokes due to blood clots

Long-term outlook

The outlook for HCM is often good. Many people live normal, long lives without major problems. With proper medical care, regular check-ups, and sensible lifestyle choices, the risk of serious complications is low. New treatments and devices continue to improve outcomes and quality of life.

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