What is cardiomyopathy?

What are the different types of cardiomyopathy?

There are three main types of cardiomyopathy:

• Hypertrophic cardiomyopathy (HCM) – the heart muscle becomes abnormally thick. In some people, the thickened muscle can obstruct blood flow leaving the heart.
• Dilated cardiomyopathy (DCM) – the heart becomes enlarged and weakened, so it can’t pump as strongly.
• Arrhythmogenic cardiomyopathy (ACM) – scar and fatty tissue gradually replace healthy heart muscle cells, which can lead to serious heart rhythm disturbances.

What causes cardiomyopathy?

Cardiomyopathy has many potential causes. 

Many cases are inherited and linked to changes in the genes responsible for producing proteins within heart muscle cells. If one family member is diagnosed, relatives may be advised to undergo screening and, in some cases, genetic testing.

Other causes include:

• Myocarditis (inflammation of the heart muscle), often following a viral infection
• Autoimmune conditions
• Certain medications or chemotherapy treatments   
• Excess alcohol consumption
• Recreational drug use

A well-known form is takotsubo cardiomyopathy, oftem called  “broken heart syndrome”. This happens when severe emotional or physical stress, such as bereavement, trauma or shock, temporarily weakens the heart muscle. It can mimic the symptoms of a heart attack but often improves over time with appropriate care and monitoring.

What are the symptoms of cardiomyopathy?

Symptoms vary depending on the type of cardiomyopathy and how advanced the condition is. Some people have no symptoms and only discover they have cardiomyopathy after another family member is diagnosed with the condition,

Common symptoms include:

• Chest pain
• Shortness of breath, particularly during activity or when lying flat
• Palpitations
• Fainting (syncope)
• Feeling lightheaded or close to fainting (presyncope)
• Fatigue
• Swelling of the legs and ankles, particularly in more advanced cases

What treatments are available?

Cardiomyopathy treatment depends on the type of cardiomyopathy and whether heart failure symptoms are present. The aim is to relieve symptoms, reduce the risk of complications and support long-term heart health.

Common medications include:

• Beta blockers – slow the heart rate, reduce strain on the heart and help improve symptoms.
• ACE inhibitors or ARBs – relax blood vessels and reduce the heart’s workload.
• Diuretics – help reduce excess fluid build-up

One important advance in the treatment of heart failure is sacubitril/valsartan (Entresto). This medication:

• Helps blood vessels relax
• Reduces fluid retention
• Makes it easier for the heart to pump blood
• Improves survival in suitable patients with heart failure

For many patients, it represents a significant step forward compared to older treatments alone.

What about the latest treatment developments?

For people with symptomatic obstructive hypertrophic cardiomyopathy, mavacamten represents an important new treatment option.

In hypertrophic cardiomyopathy, the heart muscle can become excessively thick and contract too strongly. In some people, this thickening obstructs blood flow leaving the heart.

Unlike traditional treatments that mainly manage symptoms, mavacamten targets the underlying mechanism by reducing the excessive interaction between proteins within heart muscle cells.

In practical terms, it can:

• Reduce excessive contraction of heart muscle cells
• Help the heart relax more effectively
• Reduces obstruction to blood flow
• Lower pressure within the heart
• Improve symptoms such as breathlessness, chest pain and reduced exercise tolerance

Clinical trials have shown significant improvements in symptoms, exercise capacity and quality of life for many patients. In some cases, mavacamten may also reduce the need for invasive procedures. 

Regular echocardiograms help specialists monitor the heart's pumping function and ensure it remains within a safe range during treatment with mavacamten. When prescribed and monitored appropriately, mavacamten offers an important new treatment option for suitable patients.

How do you approach treating your patients?

My approach is always tailored to the individual patient.

The first step is a detailed assessment, including medical history, family history and, where appropriate, construction of a family tree. We then carry out thorough investigations to confirm the diagnosis and identify the underlying cause, including genetic testing when indicated.

Once we’ve established the type and cause of the cardiomyopathy, we tailor treatment to the patient's symptoms, heart function and overall risk profile.

As cardiomyopathy is usually a long-term condition, ongoing follow-up is important. Regular reviews help us monitor progress and make sure patients continue to receive the most appropriate care as treatments evolve.

Where needed, advanced treatment options may include:

• Pacemaker implantation
• Implantable cardioverter defibrillator (ICD) implantation to help prevent sudden cardiac death
• Specialised procedures or surgery in selected patients

My aim is always to combine careful investigation, modern therapies and personalised care to help each patient achieve the best possible quality of life.