Connect with others who understand.

Sign up Log in
Resources
About MyHeartDiseaseTeam
Powered By
See answer

How Is Hypertrophic Cardiomyopathy Diagnosed? Blood Tests and 5 Other Methods

Updated on April 5, 2024

Cardiomyopathies are diseases that occur in the heart muscle. One of the most common types is hypertrophic cardiomyopathy (HCM), in which the heart muscle thickens and hardens, preventing proper heart function. HCM is usually passed down in families. Although HCM is a common type of cardiomyopathy, it’s underdiagnosed and often misdiagnosed.

Hypertrophic Cardiomyopathy Overview

HCM is a disease that causes the walls of the heart’s left ventricle to hypertrophy (thicken) and stiffen, so the inside of the left ventricle gets smaller. This makes it more difficult for the heart to pump oxygen-rich blood to the rest of the body. HCM is believed to affect about 1 in 500 people in the United States.

Hypertrophic cardiomyopathy is believed to affect about 1 in 500 people in the United States.

Enter Cell 2 Content Here...

Enter Cell 3 Content Here...

Enter Cell 4 Content Here...

Enter Cell 5 Content Here...

Enter Cell 6 Content Here...

HCM is caused by gene mutations (changes) passed down in families and is the most common inherited cardiomyopathy. HCM can cause serious complications, including heart failure, arrhythmia (irregular heartbeat, heart valve disease, stroke, and cardiac arrest.

Symptoms of HCM include:

  • Chest pain
  • Shortness of breath
  • Fatigue
  • Dizziness or lightheadedness
  • Syncope (fainting)
  • Palpitations, faster heartbeat, or a fluttering sensation in the chest
  • Irregular heartbeat

Symptoms typically arise during exercise or physical activity, but they can occur at rest in severe cases. Many people with HCM do not experience any symptoms. None of the symptoms of HCM are unique — many heart and lung conditions cause some or all of the same symptoms.

Diagnosing Hypertrophic Cardiomyopathy

HCM can be difficult to diagnose. Many of its features, including left ventricular hypertrophy, are also seen in a variety of medical conditions. This means that HCM might be missed and misdiagnosed as another condition.

Doctors must rule out many other conditions that can cause the same symptoms as HCM and produce similar test results. Diagnosing HCM involves a thorough medical history and physical exam followed by imaging and laboratory tests, including blood tests.

Diagnosing HCM involves a thorough medical history and physical exam, followed by imaging and laboratory tests.

Enter Cell 2 Content Here...

Enter Cell 3 Content Here...

Enter Cell 4 Content Here...

Enter Cell 5 Content Here...

Enter Cell 6 Content Here...

1. Medical History

Your doctor will take a thorough family history to see if other family members have HCM. Because the condition can go undiagnosed, it’s important to discuss other heart problems in family members that could be caused by HCM. These include stroke or heart attack at a young age, arrhythmia, and heart failure, as well as having a heart transplant or getting a pacemaker or implantable cardioverter defibrillator. Your doctor will gather a detailed personal medical history to note all the symptoms you’re experiencing, not just heart and lung symptoms.

2. Physical Exam

A thorough physical exam can reveal signs of HCM and rule out other possible diagnoses. Your doctor or cardiologist will use a stethoscope to listen for irregular heart rhythms and heart murmurs. Heart murmurs are sounds made by heart valves that aren’t functioning properly.

3. Electrocardiogram

An electrocardiogram (ECG or EKG) is a key part of diagnosing any heart problem. An ECG uses wires attached to the chest, arms, and legs to measure electrical activity of the heart. In addition, an ECG can detect arrhythmias and other abnormalities in the heart and even show signs of left ventricular hypertrophy.

Your doctor may want you to do cardiac monitoring from home using a Holter monitor or an event monitor. A Holter monitor takes continuous ECG recordings for one or two days. An event monitor takes ECG recordings when you’re having symptoms and activates the monitor. With both devices, you attach the ECG wires to yourself and carry the device with you wherever you go. Your doctor will tell you how long to carry the device.

4. Imaging

Although a standard chest X-ray can show an enlarged heart, it can’t show whether the heart muscle is thickened. Detailed imaging using echocardiography or MRI is needed to look for any physical abnormalities.

An echocardiogram is an ultrasound that measures the size and thickness of different parts of the heart, shows how the heart valves move, and looks for any abnormalities in blood flow. To see the heart more clearly, your cardiologist may do a transesophageal echocardiogram. This procedure involves placing an ultrasound probe down your throat while you’re under sedation.

Echocardiogram can also be used during a stress test. For a stress test, you might do some exercise, such as walking on a treadmill or riding a bicycle, or you might get an injection of a drug that simulates exercise’s effects on the heart.

One important measurement taken during an echocardiogram is the thickness of the left ventricular wall. HCM is suspected if the wall is at least 13 millimeters thick and is not caused by another condition, such as high blood pressure or aortic valve disease.

Cardiac MRI can also help diagnose HCM. MRI can show the structure of the soft tissue that makes up the heart in greater detail than ultrasound.-

5. Cardiac Catheterization

Cardiac catheterization with angiography can examine blood flow and pressure inside and outside the heart. While you’re under sedation, a long catheter is inserted through the groin or arm and into the heart. Using live X-ray imaging and an injection of contrast dye into the bloodstream, a cardiologist can see blood flowing through the heart and coronary arteries that supply blood to the heart muscle.

6. Blood Tests

Standard blood tests are needed to help diagnose HCM and rule out other diseases. Blood tests for cardiomyopathy are usually done to check iron levels, look for certain proteins that might indicate heart failure, and assess how the kidney, liver, and thyroid are functioning.

Occasionally, genetic testing may be done via a blood sample to identify possible gene mutations known to cause HCM. This can help to pinpoint which gene mutation is causing HCM. Family members may also be tested to determine their risk of developing HCM.

Hypertrophic Cardiomyopathy Misdiagnosis

HCM is easily misdiagnosed because it shares so many features with other diseases that affect the heart or breathing. In its early stages, HCM may not be obvious with imaging, but changes in the heart can still cause symptoms. Some common misdiagnoses include exercise-induced asthma, panic attacks, heart murmurs, and depression.

Hypertrophic cardiomyopathy is easily misdiagnosed because it shares so many features with other diseases that affect the heart or breathing.

Enter Cell 2 Content Here...

Enter Cell 3 Content Here...

Enter Cell 4 Content Here...

Enter Cell 5 Content Here...

Enter Cell 6 Content Here...

Many heart conditions can cause arrhythmias, such as atrial fibrillation (AFib). In addition, other conditions that can cause left ventricular hypertrophy may be difficult to tell apart from HCM on imaging scans. These include:

  • Hypertension (high blood pressure)
  • Genetic disorders, such as Fabry disease, Danon disease, and Pompe disease
  • Physiologic hypertrophy, also called athletic hypertrophy or athlete’s heart, a type of left ventricular hypertrophy that occurs as a healthy response to exercise in well-trained athletes
  • Aortic valvular stenosis

Proper Diagnosis

It’s important to correctly diagnose HCM to begin appropriate treatment and prevent dangerous complications. A wrong diagnosis can delay proper health care.

Communicating with your health care providers is important to make sure you receive the correct diagnosis and treatment. Be sure to discuss any family history of heart conditions or any symptoms you experience with your doctor.

Talk With Others Who Understand

MyHeartDiseaseTeam is the social network for people with heart disease and their loved ones. On MyHeartDiseaseTeam, more than 60,000 members come together to ask questions, give advice, and share their stories with others who understand life with heart disease.

Are you living with hypertrophic cardiomyopathy? What diagnostic tests did you have? Share your experience in the comments below, or start a conversation by posting on your Activities page.

Updated on April 5, 2024

A MyHeartDiseaseTeam Member

Very informative, Thank You

July 26
All updates must be accompanied by text or a picture.

We'd love to hear from you! Please share your name and email to post and read comments.

You'll also get the latest articles directly to your inbox.

This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service.
All updates must be accompanied by text or a picture.

Subscribe now to ask your question, get answers, and stay up to date on the latest articles.

Get updates directly to your inbox.

This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service.
Larry A. Weinrauch, MD, FACC, FACP, FAHA is an assistant professor of medicine at Harvard Medical School with a focus on cardiovascular disease and clinical outcomes research. Review provided by VeriMed Healthcare Network. Learn more about him here.
Kristopher Bunting, M.D. studied chemistry and life sciences at the U.S. Military Academy, West Point, and received his doctor of medicine degree from Tulane University. Learn more about him here.

Recent Articles

If you’re living with a heart disease, you know there are many treatment options to consider. Alo...

Which Animals’ Heart Valves Are Used in Valve Replacement Surgery?

If you’re living with a heart disease, you know there are many treatment options to consider. Alo...
After your heart surgery, your focus is on healing and keeping your heart healthy. However, if yo...

Neuropathy After Heart Surgery: Causes and Treatments for Nerve Damage

After your heart surgery, your focus is on healing and keeping your heart healthy. However, if yo...
Are GLP-1 Drugs Safe for People With Heart Disease? Fact #1: GLP-1s Can Contribute To Heart ...

Are GLP-1 Drugs Safe for People With Heart Disease? 3 Facts To Know (VIDEO)

Are GLP-1 Drugs Safe for People With Heart Disease? Fact #1: GLP-1s Can Contribute To Heart ...
The heart and lungs work closely together to keep your body healthy and functioning. If you have ...

Understanding How the Heart Affects the Respiratory System

The heart and lungs work closely together to keep your body healthy and functioning. If you have ...
Every time your heart beats, it pumps blood to the rest of your body. Structural heart disease is...

What Is Structural Heart Disease?

Every time your heart beats, it pumps blood to the rest of your body. Structural heart disease is...
Coconut oil is often promoted for its health benefits, but its effects heart disease are still de...

Is Coconut Oil Safe for People With Heart Disease?

Coconut oil is often promoted for its health benefits, but its effects heart disease are still de...

Thank you for subscribing!

Become a member to get even more: