Hypertrophic Cardiomyopathy – Diagnosis and Treatment

ByJanis Updated

Diagnosis

Exams and Procedures

Doctors start by asking about symptoms such as chest pain, shortness of breath, palpitations, or fainting spells. They also collect information about the person’s and their family’s history of heart disease or fainting.

The doctor listens for abnormal heart sounds, like a murmur, during a physical exam. These sounds can point to problems with the left ventricle or mitral valve.

Doctors use several tests to diagnose hypertrophic cardiomyopathy:

Test Name What It Checks For How It Works
Echocardiogram Heart chamber size, muscle thickness, valve function Uses sound waves to produce moving images of the heart
Electrocardiogram (ECG) Electrical activity, irregular rhythms Sticky electrodes record heart signals
Holter monitor Heart rhythms over 24-48 hours Portable ECG worn during routine activities
Cardiac MRI Heart muscle structure, valve function, scarring Magnets and radio waves produce detailed heart images
Stress test Heart response to exercise, symptoms under stress Patient walks or cycles while heart is monitored
Cardiac CT scan Heart size and structure X-rays create images if MRI is not possible

Doctors may suggest genetic testing or counseling if there is a family history of hypertrophic cardiomyopathy, sudden cardiac death, or unexplained fainting.

Genetic testing can help find specific mutations linked to the condition and allows screening for at-risk family members.

Additional Resources and Knowledge

Doctors often use more than one test because hypertrophic cardiomyopathy can look different in each person. Some people have mild thickening of the heart muscle without symptoms, while others have severe blockage or valve problems.

If test results are unclear, doctors may use advanced tests like cardiac catheterization to measure blood flow or check for blockages. Patients with suspected or confirmed genetic conditions may visit a genetic counselor to learn about inheritance risks.

Treatment

Medicines That Help Manage Symptoms

Doctors use several types of medicine to treat hypertrophic cardiomyopathy (HCM). The choice depends on a person’s symptoms, risk of complications, and how well they tolerate certain drugs.

Medicine Type Main Effects
Beta blockers Slow heart rate, reduce heart strain
Calcium channel blockers Relax heart muscle, improve blood flow
Mavacamten Lower muscle strain, help blood flow
Antiarrhythmics Prevent and treat arrhythmias
Blood thinners (anticoagulants) Prevent blood clots
Diuretics (cautiously used) Reduce fluid buildup

Beta-adrenergic blockers (beta blockers) are often the first choice. They slow the heart rate and reduce how hard the heart works. These medicines can help relieve chest pain and shortness of breath.

Calcium channel blockers are another option if beta blockers are not enough. They help relax the heart muscle and improve blood flow.

A cardiac myosin inhibitor is a newer treatment for adults with obstructive HCM who continue to have symptoms after standard treatments. This medication lowers stress on the heart when other therapies are not effective.

Antiarrhythmic drugs help prevent and treat abnormal heart rhythms. Some people may also need anticoagulants (blood thinners) to lower the risk of blood clots that can lead to strokes.

Doctors may use diuretics to help the heart manage excess fluid, though they prescribe them cautiously because they can worsen obstruction in HCM. Doctors usually avoid vasodilators since these may increase obstruction in some patients.

Surgical and Device-Based Interventions

When medicines do not control symptoms or the risk of complications is high, doctors may recommend surgery or a procedure. Each option is chosen based on the person’s needs and the severity of their condition.

Septal Myectomy

A surgeon performs septal myectomy by removing a section of the thickened septal wall between the left and right heart chambers. This helps blood flow more easily and lowers pressure on the heart.

Sometimes, the surgeon removes part of the thickened muscle near the tip of the heart in an apical myectomy.

Key Benefits:

  • Strong relief of chest pain, breathlessness, and fainting
  • Improves blood flow and may lower the risk of arrhythmias

Possible Complications:

  • Bleeding
  • Heart block, which may require a pacemaker

Alcohol Septal Ablation

Doctors may suggest alcohol septal ablation for people who are too frail for surgery or prefer a less invasive option. A thin tube (catheter) is placed into an artery supplying the thick heart muscle.

The doctor injects a small amount of alcohol to shrink the thickened muscle and improve blood flow. Risks include changes in the heart’s electrical system, which may require a pacemaker.

Table: Comparing Septal Myectomy and Septal Ablation
Feature Septal Myectomy Alcohol Septal Ablation
Approach Open-heart surgery Catheter-based (minimally invasive)
How it works Removes part of the thick muscle wall Shrinks muscle with targeted alcohol delivery
Who is it for? Healthy enough for surgery, failed medication Patients unfit for surgery or at high surgical risk
Risks Infection, bleeding, need for a pacemaker Heart block, vessel injury
Symptom relief Strong and usually long-lasting Often good, but less predictable
Availability Requires a skilled surgical team Performed in specialized heart centers

Implantable Cardioverter-Defibrillator (ICD)

Doctors may place an ICD (implantable cardioverter-defibrillator) under the skin near the collarbone. The device monitors the heartbeat and sends an electric shock if it detects a dangerous rhythm. ICDs help protect people at high risk for sudden cardiac death.

Benefits:

  • Prevents sudden cardiac death
  • Acts automatically for serious arrhythmias

Possible Issues:

  • Discomfort or infection at the device site
  • Occasional false alarms or unnecessary shocks

Cardiac Resynchronization Therapy (CRT) and Ventricular Assist Device (VAD)

Doctors may use cardiac resynchronization therapy (CRT) for some patients whose heart chambers are out of sync. CRT is a special pacemaker that helps the heart chambers beat together.

Ventricular assist devices (VADs) are mechanical pumps that help move blood for people with severe heart failure when other options do not work.

Heart Transplant

Surgeons perform a heart transplant by replacing the unhealthy heart with a healthy donor heart. This is a last resort for people with advanced heart failure who do not respond to other treatments.

Learn More and Ongoing Care

People with hypertrophic cardiomyopathy need regular checkups to monitor symptoms and catch problems early. Doctors may order heart scans, EKGs, and lab tests at these visits.

Family members may also need screening because HCM often runs in families.

Living With HCM

  • Stay active, but ask your doctor what activities are safe.
  • Some people need to limit intense physical activity, especially competitive sports.
  • Talk with your doctor about HCM and pregnancy or other health issues.
  • Learn the warning signs of worsening symptoms, such as new chest pain, fainting, or palpitations.

Preventing Complications

Doctors may offer ways to lower your risk of serious problems:

  • Treating Arrhythmias: Medicines or devices may prevent or manage dangerous heart rhythms.
  • Managing Atrial Fibrillation: Blood thinners prevent clots, and other medicines control heart rate or rhythm.
  • Avoiding Risky Medicines: Some drugs can make symptoms worse. Doctors usually advise against vasodilators unless necessary.
  • Family Screening: Because HCM is inherited, close relatives may get genetic counseling or heart testing.

Resources for Information and Support

  • Patient groups: Support communities help patients and families share experiences and tips.
  • Heart health teams: Specialists can help lower the risk of sudden cardiac death and heart failure.

Ongoing research aims to improve medicines and procedures, offering more options with fewer side effects.

Key Points Table: Ongoing Care in HCM

Action Why It’s Important
Regular cardiac checkups Detect changes in heart function early.
Family screening and counseling Find and protect at-risk relatives.
Follow advice on exercise and activity Avoid sudden complications.
Report new symptoms quickly Treatment can be adjusted promptly.

Care plans are tailored to each person. Some people never need a procedure, while others might need a combination of medicines, surgeries, or devices like an ICD. Everyone with HCM should have a plan to manage symptoms and prevent complications.

Steps for Healthy Living at Home

People with hypertrophic cardiomyopathy can take practical steps at home to protect their heart and overall health.

Lifestyle changes do not cure the condition, but they can lower the chance of complications like high blood pressure and heart rhythm problems.

Physical Activity

Talk to a healthcare provider before starting any new activity. Light to moderate exercise, such as walking or gentle yoga, is often safe for many people.

Avoid contact sports and heavy lifting unless your doctor approves them.

Balanced Eating Habits

Choose a diet low in salt and unhealthy fats. Eat more fruits, vegetables, and whole grains to help keep blood pressure in check.

Stay away from fried and processed foods.

The table below shows heart-friendly food choices:

Food Group Good Choices Foods to Limit
Fruits & Veggies Apples, broccoli Potato chips
Whole grains Oats, brown rice White bread
Proteins Chicken, beans Fatty cuts of meat

Weight Control

Maintaining a healthy body weight reduces strain on the heart. Set small, realistic goals to track progress.

Limiting Alcohol and Tobacco

Alcohol can trigger an irregular heartbeat in some people. Limit alcohol and only drink it after getting medical advice.

Smoking increases the risk of blood pressure problems and heart disease. Quitting tobacco makes a big difference, and support is available.

Blood Pressure Management

High blood pressure makes heart problems worse. Check your blood pressure often, follow medication plans, and keep up with routine checkups.

Healthy Sleep

Get enough rest each night to keep your heart strong. Most adults need 7–9 hours of sleep.

Going to bed and waking up at the same time every day helps maintain a healthy sleep cycle.

Ways to Manage and Find Support

Connecting with others who understand your experience, such as joining support groups or talking with friends and family, can be helpful.

Managing emotional stress is important. Practices like mindfulness or light physical activity can help. If you feel anxious or sad, reach out to a healthcare provider for advice.

Tips:

  • Seek support groups.
  • Talk about feelings.
  • Manage stress with relaxation techniques.
  • Discuss concerns about sudden death in young athletes with a doctor.

Getting Ready for Your Heart Specialist Visit

Steps You Can Take Before Your Appointment

Planning ahead helps make the visit go smoothly.

Before seeing the cardiologist, you can:

  • Call ahead to ask about any specific instructions, such as fasting, diet changes, or activity limits.
  • Create a symptom diary and include what you have felt, even if you have no symptoms. Write down when symptoms started and how often they happen.
  • List all medications and supplements. Note the names, dosages, and how often you take them.
  • Record your medical history. Include any past health issues, especially those related to the heart, and any family history of heart disease.
  • Prepare questions for the healthcare provider. These might include:
    • What could be causing my symptoms?
    • Are there any tests that I will need?
    • What are my treatment options?
    • What new risks do I face with this condition?
    • Should my family get tested or visit a genetic counselor?
    • Will other health conditions or medications affect my care?
    • Are there any limits on activities I should do?

Tip: Bring a notebook or use your phone to keep notes and questions handy during the visit.

What Your Doctor May Ask You

During the checkup, the heart specialist will ask questions to learn more about your condition.

You may hear questions such as:

  • How long have your symptoms lasted? Are they steady or do they come and go?
  • Have your symptoms gotten worse or changed?
  • Can you exercise, or does physical activity make things worse?
  • Have you ever fainted, even rarely?

If you do not have symptoms, let the doctor know. Still discuss any family or health history that may be important.

Actions to Take While You Wait for Your Appointment

While you wait for your heart health visit:

  • Talk to family members to find out if anyone has had heart conditions, like hypertrophic cardiomyopathy or unexpected deaths.
  • Avoid hard exercise if it makes your symptoms worse. Ask your healthcare provider before you do any heavy physical activities.
  • Continue daily routines unless your doctor told you to avoid something.

Related Questions

Responses are AI-generated

Health Writer

Janis's areas of expertise include nutrition, exercise, stress management, and mental health. She is passionate about educating and empowering people to take control of their health and make positive changes that can last a lifetime. Janis believes that small, sustainable changes are the key to long-term success, and she works with her clients to develop personalized plans that fit their individual needs and lifestyles.