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What is Hypertrophic Cardiomyopathy?

Hypertrophic cardiomyopathy (HCM) is a condition that causes the heart muscle, usually the wall between the two bottom chambers (the septum), to become thicker than it should be. This thickening makes it harder for the heart to pump blood, and sometimes it can even stop blood from leaving the heart. HCM is often passed down from parents to children, so it can run in families.

However, not everyone with the condition will show signs. Some people may have HCM and not know it, while others may have chest pain, shortness of breath, palpitations, or fainting, especially when they exercise. Early detection and proper management are very important because it can sometimes lead to serious problems like irregular heart rhythms or sudden cardiac arrest.

What Causes Hypertrophic Cardiomyopathy?

  • Genetic mutations are the most common cause. Changes in the proteins in heart muscle make the walls of the heart thicker.
  • Family history: If you have a parent with HCM, you are more likely to get it yourself. Doctors might suggest genetic testing or heart screenings.
  • High blood pressure can make the heart work harder, which can make thickening worse in people who are already at risk.
  • Aging: The heart naturally changes over time, which may make symptoms worse.
  • Lifestyle factors: Stress, strenuous exercise, or other health issues may put extra stress on the heart.

What are the symptoms and signs of hypertrophic cardiomyopathy?

People with hypertrophic cardiomyopathy (HCM) don’t always have symptoms, but when they do, they can be mild or severe. Some common signs and symptoms are:

  • Breathlessness, especially when working out or doing other physical activities
  • Pain or pressure in the chest, which is often caused by exercise
  • Heart palpitations—a heartbeat that is racing, fluttering, or pounding
  • Lightheadedness or dizziness, which can sometimes make you faint, especially when you’re moving around
  • Tiredness—feeling more tired or weak than usual
  • Swelling in the legs or ankles happens when the heart has trouble pumping blood effectively.

It’s important to get regular checkups and screenings, especially for people with a family history of HCM, because some people with the condition may not have any symptoms.

How do doctors figure out if someone has hypertrophic cardiomyopathy?

A physical exam, a medical history, and heart tests are all usually used to diagnose hypertrophic cardiomyopathy (HCM). Some common methods are:

  • Family history and a physical exam— Your doctor will ask you about your symptoms and whether any of your family members have heart problems.
  • An electrocardiogram (ECG/EKG) records the heart’s electrical activity to find irregular rhythms.
  • An echocardiogram (echo) is an ultrasound of the heart that shows how thick the muscles are, how they are shaped, and how blood flows.
  • Cardiac MRI gives detailed pictures that help doctors figure out how much the heart muscle has thickened.
  • Stress test while exercising—checks how the heart reacts to physical activity.
  • Genetic testing may be suggested if you think HCM runs in your family.

These tests are very important for people with a family history of HCM or heart symptoms that can’t be explained, since HCM can sometimes go unnoticed.

What are some possible ways to treat hypertrophic cardiomyopathy?

The severity of the symptoms and how they affect the heart will determine how to treat hypertrophic cardiomyopathy (HCM). There is no cure, but there are many ways to help control the condition and lower the chance of problems.

  • Beta-blockers and calcium channel blockers are two types of drugs that can help the heart muscle relax, slow the heart rate, and improve blood flow.
  • If thickened heart muscle makes it hard for blood to flow, doctors may suggest procedures like septal ablation or surgical septal myectomy.
  • Patients who are more likely to have dangerous arrhythmias can get implantable cardioverter defibrillators (ICDs) to stop sudden cardiac arrest.
  • Long-term care includes making changes to your lifestyle, like avoiding strenuous exercise, keeping your blood pressure in check, and going to regular checkups.
  • It may be a good idea to screen family members to find out if any of them also have HCM. This way, they can be watched and treated early if necessary.

Many people with HCM can live full, active lives with the right treatment plan.

What could happen if hypertrophic cardiomyopathy isn’t treated?

Hypertrophic cardiomyopathy (HCM) can lead to serious health problems if it isn’t diagnosed or treated properly. The heart muscle that has gotten thicker can make it harder for blood to flow normally and put more stress on the heart. These changes could cause your heart to beat in an irregular way, which could make you feel dizzy, have palpitations, or faint. In some cases, they could even make the heart stop working because it can’t pump blood as well. The thickened muscle can also stop blood from leaving the heart and may affect the mitral valve, which can cause leaks.

In rare cases, untreated HCM can raise the risk of sudden cardiac arrest, especially in younger people or athletes. Because of these possible risks, it is important to get an early diagnosis and keep up with treatment to protect heart health and avoid serious problems.

Are there any other conditions that are similar to hypertrophic cardiomyopathy?

Hypertrophic cardiomyopathy (HCM) may be linked to or resemble other cardiac conditions, necessitating meticulous assessment of symptoms and diagnostic results by physicians. Restrictive cardiomyopathy is another condition that is similar. In this case, the heart walls are stiff but not necessarily thickened, which makes it harder for blood to fill the heart. Another kind is dilated cardiomyopathy, which is when the heart chambers get bigger and weaker and have trouble pumping blood. Some genetic syndromes, such as Friedreich’s ataxia or Noonan syndrome, can also cause HCM and other heart problems. Some people may also have left ventricular hypertrophy because of high blood pressure or problems with the valves. This can look like HCM on imaging tests.

Understanding the connections between these conditions enables doctors to accurately diagnose, plan treatment, and provide appropriate family screening when necessary.

What to do next

If you or someone you care about might have hypertrophic cardiomyopathy (HCM), acting quickly can make a big difference in how well you can manage the condition. If you have chest pain, shortness of breath, palpitations, or a family history of HCM, the first thing you should do is schedule an appointment with a cardiologist for a full evaluation.

To confirm the diagnosis and find out how serious the condition is, your doctor may suggest diagnostic tests like an echocardiogram, an electrocardiogram, or genetic testing. They can make a personalized treatment plan based on the results. This plan could include medications, changes to your lifestyle, procedures, or regular checkups.

Screenings or genetic counseling may also help family members find out if they have any inherited risk. Early detection and proactive care are important for keeping your heart healthy and lowering the risk of complications.

Meet Manhattan Cardiology

Dr. Padma Shenoy is a board-certified cardiologist specializing in the diagnosis and treatment of cardiovascular diseases. She is certified by the American Board of Internal Medicine (ABIM) in Internal Medicine and holds additional certifications in Adult Echocardiography and Stress Echocardiography from the National Board of... Learn More »