Hypertrophic cardiomyopathy (HCM) is usually the result of genetic changes that affect the heart muscle. These changes cause the walls of the heart muscle to become excessively thick, which makes it more difficult for the heart to pump blood.
There are two types of HCM: obstructive and nonobstructive. Among people with an HCM diagnosis, about
Nonobstructive HCM is less common. In people with this type, the heart muscle is thicker than it should be, but the thickness does not block or reduce the blood flow from the heart.
This article looks at HCM in more detail, including its symptoms, causes, and treatment. It also discusses the possible complications of HCM and the outlook for people with this condition.
Sometimes, HCM causes no symptoms. Due to this, many people do not receive a diagnosis of HCM until adolescence or adulthood, despite having had the condition since birth.
However, in people who do experience symptoms, HCM can cause:
- chest pain, especially during or after physical exertion
- shortness of breath, especially during or after physical exertion
- extreme tiredness
- changes in heart rhythms
- swelling in the feet, ankles, legs, or abdomen, known as edema
Anyone who experiences new or worsening symptoms should discuss them with a doctor, who can help them find ways to manage the condition.
HCM is congenital, which means that it is present at birth. The condition is heritable, and a person with a biological parent with HCM has a 50% chance of inheriting the risk of developing the condition.
HCM is due to changes in genes. The genes most commonly involved in the development of HCM are:
These genes have important roles in making up key structures of the heart muscle known as sarcomeres. Some of these genes are also important for muscle contractions and relaxations.
Experts are not yet completely sure why mutations in these genes lead to a buildup of the heart muscle wall.
As genetics are key to the development of HCM, a person cannot take steps to reduce their risk.
Most of the time, a person with HCM has one biological parent with the condition.
However, in rare cases, both copies of the gene are altered, which can lead to more severe symptoms.
According to the
- atrial fibrillation, which can lead to:
- blood clots
- other heart-related complications
- heart failure
- sudden cardiac arrest, although this is rare
Experts emphasize the importance of an early diagnosis to minimize the risks of these complications.
Healthcare professionals may use a variety of tests to confirm a diagnosis of HCM, including:
- EKG: This test registers the electrical activity of the heart.
- Echocardiogram: This scan allows clinicians to see the structure of the heart and how it is pumping.
- Exercise test: A person will use a treadmill or exercise bike while undergoing an EKG recording. This shows clinicians how the heart works during physical activity.
- MRI scan: This scan provides detailed images of a person’s heart.
A person can also undergo genetic testing for HCM. This will involve providing a saliva sample or having a blood test.
Currently, the Food and Drug Administration (FDA) has approved only
In people who do not yet have symptoms
Doctors will encourage people who have a diagnosis of HCM but are not yet experiencing symptoms to follow a heart-healthy lifestyle. This can
- staying active
- eating a heart-healthy diet
- maintaining a moderate weight
- getting good quality sleep
- avoiding tobacco products
Doctors will also monitor a person for other conditions that may be complications of HCM.
In people who are experiencing symptoms
Doctors may recommend medications, surgery, or a combination of both for people with HCM who require management of their symptoms.
Medications that can help a person manage the symptoms of HCM
Although these may provide temporary relief of symptoms, they will not treat the HCM itself. They may also cause side effects. It is important to work with a doctor to determine the best treatment regimen.
- Septal myectomy: A surgeon removes part of the thickened septum that encroaches into the left ventricle to help improve blood flow.
- Alcohol septal ablation: In this nonsurgical procedure, doctors inject ethanol, a type of alcohol, into the small artery that provides blood to the thickened heart muscle. The alcohol destroys these cells.
- Cardiac implantable electronic devices (CIEDs): Doctors may recommend CIEDs such as implantable cardioverter defibrillators, pacemakers, or cardiac resynchronization therapy devices to help maintain a typical heart rhythm.
- Heart transplant: If a person has advanced, end stage HCM, doctors may suggest a heart transplant with a donor’s heart.
Many people with HCM experience few or no symptoms, and their life expectancy is
For example, a person with HCM has an increased risk of developing abnormal heart rhythms or other heart problems. In very rare cases, these can be fatal.
However, by seeking medical attention as early as possible and then working with a doctor to find the most effective treatment plan, it is generally possible to live a full and active life.
A person should always contact a doctor if they notice changes in their heart rhythm or cardiac symptoms that concern them. Symptoms to be aware of include:
- shortness of breath
- chest pain
- rapid or irregular heartbeats
Although these are symptoms of HCM, they may also be the result of other conditions. It is important to consult a doctor to receive an accurate diagnosis and an effective treatment plan.
If HCM does cause symptoms, a person may find that the condition affects the following areas of their life:
- Work: A person may need to discuss their condition with a doctor and their employer if their role is physically strenuous. However, most people find that it does not affect their work.
- Driving: Most people with HCM can drive as usual, but if a person experiences fainting or dizziness, they will need to notify the driving authorities.
- Exercise: It is best to discuss an exercise plan with a doctor. If a person notices their symptoms worsening during exercise, they should stop immediately. A doctor can recommend alternative, less strenuous forms of exercise.
- Diet and drinking: A person should follow a heart-healthy diet and ask a doctor for specific advice regarding food and alcohol. In some cases, they may suggest limiting the intake of alcohol.
- Sex: It is safe for people with HCM to have sex. However, if this activity feels too strenuous or causes symptoms, it is advisable to stop immediately.
People should never stop taking medications without speaking with a doctor.
A person cannot prevent HCM, as it is an inherited condition. However, they can help prevent complications of the condition by working with a doctor to find the right treatment plan for them.
Hypertrophic cardiomyopathy occurs when genetic changes inherited from biological parents cause the heart muscle to become excessively thick. This can make it more difficult for the heart to pump blood effectively.
Some people with HCM experience no symptoms at all. Others develop symptoms over time. These can include palpitations, fainting, and chest pain.
The treatment options for HCM include medications, surgery, and lifestyle changes.