Hypertrophic Cardiomyopathy (HCM)

Because Matters of the Heart, Matter

Hypertrophic Cardiomyopathy (HCM) is a heart condition where the heart muscle becomes abnormally thick, making it harder for the heart to pump blood. For many, it goes unnoticed—until symptoms suddenly appear or complications arise.

How Your Heart Normally Works

Your heart’s job is simple: it pumps blood without oxygen (deoxygenated) to your lungs to collect oxygen, and then pumps oxygen-rich blood out to the rest of your body.

What is HCM?

Hypertrophic Cardiomyopathy (HCM) is a condition where the heart muscle becomes thicker than normal. The heart’s job is to pump oxygen-rich blood to the body, but when the muscle wall is thick and stiff, it’s harder for blood to fill the heart and flow out properly.

1 in 200 to 1 in 500 people are affected by HCM

The 1995 CARDIA study, a multicenter, US-population-based echocardiography study of 4111 subjects (aged 23-35), identified the prevalence of HCM as 1:500 people in the general population. The 2015 Semsarian publication identified that the prevalence of HCM gene carriers could be as high as 1:200.

85% of people with HCM cases are undiagnosed

Estimated undiagnosed range calculated using prevalence of 1:500, estimated US population (332,330,571 in May 2021), and estimated diagnosed population (~100,000).

What Happens in HCM?

• The muscle cells in the heart are not lined up normally (this is called myocardial disarray).
• Even mild thickening can cause symptoms because the heart becomes stiff.
• The heart has to work harder to pump blood, which may lead to fatigue, chest pain, or a fast heartbeat.

Common Symptoms

People with HCM may not always notice sudden changes. Instead, symptoms build slowly over time, so they may feel “normal.” Common experiences include:

• Unexplained tiredness or short of breath
• Chest pain or palpitations (fast or irregular heartbeat)
• Dizziness or fainting
• Always feeling slower or less energetic than friends
• Not being able to keep up in sports or activities

These symptoms are important—don’t ignore them.

How Doctors Check for HCM?

The goal is simple: help you feel better, live fully, and reduce risks.

Depending on your condition, doctors may suggest:

Step 1: Initial Check

Your doctor may look for HCM if:
• Someone in your family has HCM
• You have symptoms such as a heart murmur
• Tests like an ECG or Echo show your heart isn’t working normally

Step 2: Your History

The doctor will ask about:
• Your family’s heart health
• Your own heart health

Step 3: Tests to Confirm HCM

To make a diagnosis, doctors need to see how your heart looks and works. They may do:
• Echocardiogram (Echo): An ultrasound that shows the heart’s walls and blood flow
• MRI: Gives a detailed picture if the echo is not clear enough
• Genetic testing or family history check: Helps when images are unclear but HCM is suspected

Who Can Get HCM?

• HCM is genetic (runs in families).
• It can affect anyone—men or women, young or old, any ethnicity.

How does HCM affect the heart?

HCM causes the heart muscle to become thick in some parts, develop scarring, and stiffen up. These changes can cause issues with blood flow and conduction of the electrical signals that make the heart beat in a regular rhythm. Not every HCM heart is impacted the same way; in fact, there is a great degree of variability in the HCM heart.

Think of your heart like a house.

  • Walls:
    A house has strong walls made of neatly stacked bricks. In a healthy heart, the walls are built in the same organized way with cells. But in HCM, the “bricks” (cells) are uneven, misaligned, and there’s too much “mortar,” making the walls thicker and irregular.
  • Plumbing:
    Just like pipes move water through a house, your heart has its own plumbing system that moves blood and oxygen through the muscle. In HCM, this flow can get blocked, so even though the muscle gets oxygen, blood doesn’t leave the heart properly, causing symptoms.
  • Doors and Hallways:
    Doors in a house open and close to move you from one room to another. In your heart, valves act like doors, letting blood move between chambers. With HCM, these doors don’t always work smoothly because of obstruction, making it harder for blood to flow.
  • Electric System:
    A house has wires and circuits that keep the lights and appliances running. The heart also has an electrical system that tells it when to beat. In HCM, these circuits can get confused, leading to irregular heartbeats (arrhythmias). Sometimes it’s mild, but in severe cases, it can cause a total breakdown—similar to a house’s electricity failing completely.

What is Obstruction?

What are two types of HCM?

  • Obstructive HCM—This is the most common type where the thickened heart muscle blocks or partially blocks blood flow from the heart to the aorta so it can’t get to the body.
  • Nonobstructive HCM—In this type, the thickened heart muscle does not block blood flow.

What Happens in HCM Obstruction

In hypertrophic cardiomyopathy (HCM), the wall of the heart (especially the septum, the wall between the left and right lower chambers) becomes thicker than normal. Because of this:

  • The path out of the left ventricle (the heart’s main pumping chamber) gets narrowed.
  • Sometimes the mitral valve (the “door” between two chambers) bumps against the septum, blocking the way even more.

This blockage (called obstruction) means blood has a harder time leaving the heart. Pressure builds up inside the heart, and the heart has to work extra hard to pump.

Two Main Reasons for Obstruction

1. Thickened Septum (Narrowed Pathway):

Imagine squeezing the end of a garden hose with your thumb. Less water comes out, but it comes out faster, and the pressure builds up inside. In HCM, the thickened wall makes the “exit” narrow, so less blood leaves the heart with each beat, and pressure builds inside.

2. Mitral Valve Problem (SAM – Systolic Anterior Motion):

In some people, the mitral valve doesn’t close properly and instead moves into the pathway, blocking blood flow. This can also cause blood to leak backward into the left atrium (mitral regurgitation), which may lead to irregular heart rhythms like atrial fibrillation.

How Doctors Measure Obstruction

Doctors measure the “pressure difference” (gradient) between the inside of your left ventricle and the aorta (the main artery).
• A gradient under 30 mmHg is usually not considered obstruction.
• Gradients can be fixed (always there) or provocable (showing up with exercise).
• Echocardiograms and stress echocardiograms help measure this.

Delayed or misdiagnosis

Hypertrophic cardiomyopathy (HCM) can be hard to detect. Its symptoms are different for each person, and many of them overlap with other, more common conditions. Sometimes the signs feel mild or temporary, so doctors may not suspect HCM right away unless detailed heart tests are done.

Conditions HCM Can Be Mistaken For
  • Asthma or exercise-induced asthma:
    Shortness of breath, especially during activity, is one of the most common HCM symptoms.
  • Panic or anxiety attacks:
    Irregular heartbeats (arrhythmias) can feel frightening. But if they settle before you reach the doctor, it may look like anxiety instead.
  • Depression:
    The constant tiredness of HCM can sound like depression when patients say things such as, “I can’t get myself to do things I used to enjoy.”
  • Mitral valve prolapse:
    This is another condition that can cause a heart murmur, just like HCM.
  • Innocent or functional heart murmur:
    Some murmurs are harmless. But in HCM, a murmur that seems harmless may actually point to a more serious problem.
  • Athlete’s Heart:
    Just like arm or leg muscles, the heart muscle of elite athletes can thicken from intense training. This looks similar to HCM on some tests, but it’s rare and usually happens only in top-level athletes.

Screening Your Family for HCM

If someone in your family is diagnosed with hypertrophic cardiomyopathy (HCM), or passes away because of it, close blood relatives need to be checked. Screening should include:

  • An ECG
  • An echocardiogram
  • A full check-up with a cardiologist
Who Needs to Be Screened?

Start with your first-degree relatives:

  • Up: Parents
  • Over: Brothers and sisters
  • Down: Children

Relatives like aunts, uncles, and cousins (second-degree) should also be told, so they can discuss screening with their doctor. HCM sometimes “skips a generation” because not everyone who carries the gene shows symptoms.

When Should Screening Happen?

If no genetic test is available (or if no mutation is found):

  • Every year during puberty (about age 12) until growth is complete (around age 20–25).
  • Every 3–5 years after age 25.

If a genetic test finds a mutation in the family:

  • All first-degree relatives should be offered genetic testing.
  • Those who test positive should follow the age-based screening schedule above.
  • Those who test negative may not need routine screening unless symptoms appear.

Treatment for HCM

Not everyone with hypertrophic cardiomyopathy (HCM) has the same problems. Some people have no symptoms, while others may need treatment. Your treatment depends on factors like your heart’s structure, scarring, family history, and whether you have rhythm problems (arrhythmias). Many people live normal lives with little or no treatment, but others may need medicines or procedures.

1. Medications

For most patients, medicines are the first step.
• Beta-blockers and calcium channel blockers: slow the heart, let it relax, and pump more oxygen-rich blood with each beat.
• Other medicines: sodium channel blockers, diuretics, blood thinners, or myosin inhibitors may be used depending on symptoms.

2. Myectomy Surgery

If symptoms continue despite medicines, or if obstruction is severe:
• Septal myectomy: an open-heart surgery that removes extra thickened muscle from the septum.
• Often called the “gold standard” treatment, it provides fast and lasting relief.
• If the mitral valve is part of the problem, it can also be repaired or replaced during the same surgery.

3. Alcohol Septal Ablation (ASA)

For some patients, a less invasive option is available:
• A catheter is inserted through the groin into a small artery of the heart.
• A tiny amount of alcohol is delivered to shrink part of the thickened septum.
• Symptoms improve gradually as the tissue shrinks.
• Recovery is usually quicker than open-heart surgery, though the risk of complications is slightly higher and success rates can be lower.
• ASA is often chosen when patients are too frail for surgery.

4. Arrhythmias and Rhythm Management

HCM can cause irregular heartbeats (arrhythmias). These may be harmless or serious.
• Tests: ECG, Holter monitor, event recorder, or an implantable loop recorder help diagnose arrhythmias.
• Treatment options depend on the type:

  • Medications to control heart rhythm.
  • Catheter ablation to treat certain rhythm problems.
  • Cardioversion (a safe electrical shock while sedated) to reset the heart.
  • Pacemaker for slow or irregular rhythms.
  • ICD (Implantable Cardioverter Defibrillator) for dangerous rhythms; it can deliver a life-saving shock.

Genetics and HCM

Hypertrophic cardiomyopathy (HCM) is often linked to changes (mutations) in certain genes. That’s why doctors recommend genetic testing if you are diagnosed.

  • What testing shows: Sometimes a mutation is found, sometimes it isn’t. In fact, about half of patients who get tested do not show a known mutation. This doesn’t mean they don’t have HCM—it just means science hasn’t yet discovered all the gene changes that cause it.
  • Why it matters today: If a mutation is found, it can guide screening for your family members to see who else may be at risk.
  • Why it matters in the future: As research advances, knowing your specific mutation may help doctors use gene-based therapies to treat HCM.

In short: genetic testing may not always give answers, but it is an important step for your family’s health now, and for future treatment options.

References:

  1. Gersh, B.J., Maron, B.J., Bonow, R.O., Dearani, J.A., Fifer, M.A., Link, M.S., et al. (2011). 2011 ACCF/AHA guidelines for the diagnosis and treatment of hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation/American Heart Association Task Force on practice guidelines. Journal of the American College of Cardiology and Circulation, 58, e212-260.
  2. 2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy. JACC Volume 76, Issue 25, 22 December 2020, Pages 3022-3055.
  3. Maron, B.J. and Salberg, L. Hypertrophic Cardiomyopathy: For patients, their families and interested physicians. Blackwell Futura: 1st edition 2001,81 pages; 2nd edition 2006, 113 pages; 3rd edition 2015
  4. HCMA, Up Beat, Volume 1
  5. Mended Hearts, HCM Discussion Guide
  6. Genetic Testing. (n.d.). Hypertrophic Cardiomyopathy Genetic Testing. Hypertrophic Cardiomyopathy Genetic Testing l Division of Cardiology. Retrieved October 30, 2020, from https://www.columbiacardiology.org/patient-care/hypertrophic-cardiomyopathy-center/about-hypertrophic-cardiomyopathy/genetic-testing

 

Why this matters

Living with HCM can feel overwhelming at first. But with the right knowledge, support, and treatment, life can still be rich, active, and meaningful.
Don’t walk this journey alone. Join our patient community, get the booklet, and let’s stay connected.

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This disease awareness initiative is brought to you by Heart Health India Foundation (HHIF)

Supported by Bristol Myers Squibb (BMS)

Disclaimer: This information is for awareness purposes only. It is not a substitute for medical advice, diagnosis, or treatment. If you have symptoms, concerns, or questions about hypertrophic cardiomyopathy (HCM), please consult a qualified cardiologist or healthcare professional for personalized medical guidance.

Would you like to join our HCM Patient Community WhatsApp?

  • Stay connected with other patients, caregivers, and experts. In this group you can:
  • Receive trusted information about HCM
  • Ask questions and share experiences
  • Get updates on events, webinars, and new treatments
  • Find encouragement from people who understand your journey

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