Hypertrophic cardiomyopathy

Overview

Hypertrophic cardiomyopathy (HCM) is a condition where the heart muscle becomes abnormally thick, which can make it harder for the heart to pump blood. The thickening often occurs in the wall between the heart's lower chambers (the septum).

Hypertrophic cardiomyopathy affects about 1 in 500 people worldwide, making it a fairly common heart condition.

It can affect people of any age, but symptoms often first appear in teenagers or young adults. It occurs equally in men and women and is seen across all ethnic groups.

Symptoms

Common symptoms

• Shortness of breath, especially during exercise or physical activity
• Chest pain or discomfort
• Palpitations (feeling like your heart is pounding, fluttering, or skipping beats)
• Fainting or feeling lightheaded, particularly during or just after exercise

Symptoms in children

• Many children have no symptoms at all
• Difficulty keeping up with friends during physical activities
• Unexplained fainting spells

Symptoms in older adults

• Fatigue and reduced energy
• Swelling in the ankles or legs (signs of heart failure)
• Palpitations caused by atrial fibrillation (a type of irregular heartbeat)

Causes

Main causes

• A genetic mutation (change in a gene) that causes the heart muscle cells to grow thicker than normal
• This mutation is usually inherited from a parent, but it can sometimes happen for the first time in a person without a family history

Risk factors

• Having a parent, sibling, or child with hypertrophic cardiomyopathy
• High blood pressure (which can make the thickening worse)
• Getting older – the condition may become more noticeable with age

When to see a doctor

See a doctor urgently if:

• If you faint or nearly faint during or after exercise
• If you have chest pain that is new, severe, or does not go away
• If you experience sudden shortness of breath

Book a routine appointment if:

• If you have a family history of hypertrophic cardiomyopathy or sudden cardiac death
• If you notice new symptoms like palpitations, fatigue, or swelling in your legs
• If a routine check-up finds a heart murmur or an abnormal electrocardiogram (ECG)

Diagnosis

Doctors diagnose hypertrophic cardiomyopathy by reviewing your symptoms, listening to your heart, checking your family history, and performing imaging tests that look at the structure and function of your heart.

Tests that may be done

• Echocardiogram (an ultrasound of the heart) – the main test to see the thickness of the heart muscle and how blood flows
• Electrocardiogram (ECG) – records the electrical activity of your heart
• Cardiac magnetic resonance imaging (MRI) – provides detailed pictures of the heart muscle
• Genetic testing – a blood test to look for the gene changes that cause HCM
• Holter monitor – a portable device you wear to record your heart rhythm for 24 to 48 hours

What to expect at your appointment

If your doctor suspects HCM, they will arrange for one or more heart tests. You may be asked about your activity levels and any symptoms you have. The process is usually straightforward and does not require any special preparation. If you have a family history, your close relatives may be advised to get tested as well.

Treatment

Treatment for hypertrophic cardiomyopathy focuses on relieving symptoms, preventing complications, and reducing the risk of sudden cardiac arrest. The plan is tailored to each person’s specific situation.

Self-care at home

• Avoid very strenuous or competitive exercise if your doctor advises it
• Stay well hydrated and avoid becoming dehydrated
• Keep all regular follow-up appointments with your cardiologist
• Tell all healthcare providers (including dentists) that you have HCM

Medical treatments

Doctors may prescribe medications to help relax the heart muscle and control heart rate, such as beta-blockers or calcium channel blockers. If there is a risk of dangerous heart rhythms, an implantable cardioverter-defibrillator (ICD) may be recommended. Some people with obstructive HCM may benefit from a procedure called alcohol septal ablation, which reduces the thickness of the heart muscle. All treatments are chosen based on your individual needs.

When is surgery considered?

For some people with obstructive HCM and severe symptoms that do not improve with medication, a surgical procedure called septal myectomy may be an option. This surgery removes a small part of the thickened heart muscle to improve blood flow.

Living with this condition

Many people with HCM live normal, active lives, but you may need to make some adjustments. Regular check-ups with a cardiologist are important. You may need to avoid competitive sports or very intense physical activity, but most daily activities are safe.

Lifestyle tips

• Follow your treatment plan exactly as prescribed
• Attend regular cardiology appointments for monitoring
• Know your family's heart health history and encourage relatives to get screened
• Avoid smoking and limit alcohol

Diet and exercise

A heart-healthy diet with plenty of fruits, vegetables, and whole grains is recommended. For exercise, moderate activities like walking, light jogging, or yoga are often safe, but check with your doctor first. Avoid activities that involve sudden bursts of effort or heavy lifting unless cleared by your cardiologist.

Mental health and emotional wellbeing

Living with a heart condition can be stressful and may cause anxiety or depression. It is normal to have concerns, and talking to a counsellor or joining a support group can help. Your doctor can also provide resources.

Prevention

Because hypertrophic cardiomyopathy is usually genetic, it cannot be prevented. However, screening close family members can detect the condition early, allowing for monitoring and treatment before symptoms develop.

Screening programmes

If you have a first-degree relative (parent, sibling, or child) with HCM, your doctor may recommend a screening echocardiogram and genetic testing. The best time to start screening is usually in your teenage years or early adulthood, but it can be done at any age.

Complications

If left untreated

• Heart failure – the heart cannot pump enough blood to meet the body's needs
• Atrial fibrillation – a common type of irregular heartbeat that increases the risk of stroke
• Sudden cardiac arrest – the heart suddenly stops beating effectively
• Stroke – especially if atrial fibrillation is present

Long-term outlook

With proper medical care and monitoring, most people with hypertrophic cardiomyopathy live long, full lives. The risks of serious complications can be greatly reduced with treatment. Many people never need surgery and manage well with lifestyle adjustments and medications.

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