Table of ContentsView AllTable of ContentsPhysical ExamElectrocardiogramEchocardiogramCardiac MRIGenetic TestingAdditional TestingDifferential DiagnosisNext in Hypertrophic Cardiomyopathy GuideHow Hypertrophic Cardiomyopathy Is Treated
Table of ContentsView All
View All
Table of Contents
Physical Exam
Electrocardiogram
Echocardiogram
Cardiac MRI
Genetic Testing
Additional Testing
Differential Diagnosis
Next in Hypertrophic Cardiomyopathy Guide
Cardiac imaging withechocardiogramorcardiac magnetic resonance imaging(MRI) is used to diagnosehypertrophic cardiomyopathy(HCM). These noninvasive tests measure heart wall thickness and evaluate any associated blood flow obstruction or valvular problems that often accompany HCM. These tests may be ordered after HCM is suspected, based on the identification of a heart murmur or other abnormalities on a physical exam. Genetic blood testing may also be used to diagnose HCM.
This article discusses the process and tests used for diagnosing HCM.
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Physical Examination
A healthcare provider may suspect hypertrophic cardiomyopathy if they hear a heart murmur during a physical examination. By using a stethoscope, healthcare providers can listen for heart valve closures, murmurs, or other abnormal sounds.
What Is a Heart Murmur?
A healthcare provider can perform certain maneuvers during the physical exam to differentiate between a harmless murmur and HCM murmur:
Other physical exam findings that are suggestive of HCM include arterial pulse andapical pulseabnormalities.
Whenever abnormalities that suggest HCM are detected upon a physical examination, your healthcare provider will ask about any related symptoms. These include:
If your healthcare provider suspects HCM, they will ask about family history, including history of:
You should provide details not just of first-degree relatives, like siblings or parents, but also about cousins, aunts, uncles, grandparents, and great-grandparents. Questions about the heart health of family members is especially important in HCM, since this condition is inherited.
Anelectrocardiogram(ECG) can provide clues about an HCM diagnosis. This test may be performed for another reason and be the first indication that HCM is present.
The ECG provides information about the heart rhythm as well as chamber size and heart wall thickness. In very thick-walled hearts, the ECG may be significantly abnormal, but the findings are not very specific. The findings may be due to many causes, including:
Transthoracic echocardiography(called “echo” for short) is a noninvasive test that uses an ultrasound to produce pictures of the heart.
During this procedure, an ultrasound technician will take pictures from the surface of your chest using a wand and gel. You may be asked to hold your breath for a few seconds or change position in order to get the best pictures.
In addition to providing pictures of the heart, echocardiography also includes information about blood flow and can show the following possible complications of HCM:
People who are found to have HCM will initially require repeat echocardiograms every year or two to monitor the heart’s function, wall thickness, and valves.
Like echocardiography,cardiac MRIalso provides pictures and information about blood flow in the heart and is used to diagnose HCM.
MRIis a painless, noninvasive test that uses a strong magnet to create images. Note that the cardiac MRI machine can be loud, and some people experience claustrophobia during this test.
Why Would an ICD Be Needed in HCM?One of the most devastating complications of HCM is sudden cardiac death. ICDs are a type of implantable device that monitor the heart’s rhythm and can provide a shock of electricity to stop any dangerous heart rhythms likeventricular tachycardiaorventricular fibrillation. Cardiologists take into account several factors when recommending whether or not someone with HCM should consider getting an ICD. These include symptoms like fainting, family history of sudden cardiac death, findings from echocardiography or MRI, and findings on heart rhythm testing.
Why Would an ICD Be Needed in HCM?
One of the most devastating complications of HCM is sudden cardiac death. ICDs are a type of implantable device that monitor the heart’s rhythm and can provide a shock of electricity to stop any dangerous heart rhythms likeventricular tachycardiaorventricular fibrillation. Cardiologists take into account several factors when recommending whether or not someone with HCM should consider getting an ICD. These include symptoms like fainting, family history of sudden cardiac death, findings from echocardiography or MRI, and findings on heart rhythm testing.
Even though the diagnosis of HCM doesn’t rely on genetic testing, this type of testing is very important for screening family members. If a mutation is identified in someone with HCM, screening relatives is simplified, since they only need a blood test to determine if they have HCM or not.
If no mutation is found in the affected person with HCM, family members will need to undergo periodic echocardiograms to see if they develop HCM.
Once HCM is diagnosed, more cardiac tests need to be done to optimize the treatment of HCM or determine if an implantable cardioverter defibrillator (ICD) is appropriate.
Exercise Stress Testing
Duringexercise stress testing, you will be asked to walk on a treadmill or ride a stationary bicycle while your heart rhythm is monitored with an ECG. After you have exercised as long as possible, you will be asked to lay on a table where images of the heart are taken with an echocardiogram.
This test is performed in people with HCM to look for obstruction to the blood flow out of the heart. People with HCM may have intermittent symptoms from obstruction.
An echocardiogram done while at rest may not show obstruction, but with exercise, the heart is contracting more vigorously, and an obstruction may be provoked.
Heart Rhythm Testing
Heart rhythm testing is performed to evaluate the heart’s rhythm over a period of days to weeks. A device, such as aHolter monitor, is worn for a specified period. Then, a cardiologist interprets the results.
Cardiologists are interested in whether or not any arrhythmias occurred. The presence ofventricular tachycardiais a marker of increased risk for sudden cardiac death and is one indication for placement of an ICD.
HCM is just one cause of a thickened heart muscle. The following can also cause thickened heart muscle.
Another possible cause is known as “athlete’s heart.” Just as exercise affects skeletal muscles, it can cause changes in the heart muscle. Athlete’s heart has specific findings, including that the thickened heart muscle goes away after stopping intense exercise.
Differentiating between these and HCM as causes of the thickened heart muscle is essential for proper treatment.
Summary
A Word From Verywell
Undergoing tests to diagnose heart conditions can be stressful, particularly when the potential diagnosis can be frightening. Thankfully, our understanding of HCM has come a long way. There are medical and surgical treatments to improve symptoms and quality of life and waysto prevent complications like sudden cardiac death. Always contact a healthcare provider for an examination if you experience any symptoms of a heart condition.
6 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.American Heart Association.Heart murmurs.American Heart Association.Hypertrophic cardiomyopathy.Gościniak P, Baron T, Milczarek S, Kostkiewicz M, Machaliński B.Updates for the diagnosis and management of cardiac amyloidosis.Adv Clin Exp Med. 2022;31(2):175-185. doi:10.17219/acem/142252Ommen SR, Mital S, Burke MA, et al.2020 AHA/ACC guideline for the diagnosis and treatment of patients with hypertrophic cardiomyopathy: a report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines.Circulation. 2020;142:e558–e631. doi:10.1161/CIR.0000000000000937Sivalokanathan S.The role of cardiovascular magnetic resonance imaging in the evaluation of hypertrophic cardiomyopathy.Diagnostics. 2022;12(2):314. doi:10.3390/diagnostics12020314Marian AJ, Braunwald E.Hypertrophic cardiomyopathy: genetics, pathogenesis, clinical manifestations, diagnosis, and therapy.Circ Res. 2017;121(7):749-770. doi:10.1161/CIRCRESAHA.117.311059
6 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.American Heart Association.Heart murmurs.American Heart Association.Hypertrophic cardiomyopathy.Gościniak P, Baron T, Milczarek S, Kostkiewicz M, Machaliński B.Updates for the diagnosis and management of cardiac amyloidosis.Adv Clin Exp Med. 2022;31(2):175-185. doi:10.17219/acem/142252Ommen SR, Mital S, Burke MA, et al.2020 AHA/ACC guideline for the diagnosis and treatment of patients with hypertrophic cardiomyopathy: a report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines.Circulation. 2020;142:e558–e631. doi:10.1161/CIR.0000000000000937Sivalokanathan S.The role of cardiovascular magnetic resonance imaging in the evaluation of hypertrophic cardiomyopathy.Diagnostics. 2022;12(2):314. doi:10.3390/diagnostics12020314Marian AJ, Braunwald E.Hypertrophic cardiomyopathy: genetics, pathogenesis, clinical manifestations, diagnosis, and therapy.Circ Res. 2017;121(7):749-770. doi:10.1161/CIRCRESAHA.117.311059
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
American Heart Association.Heart murmurs.American Heart Association.Hypertrophic cardiomyopathy.Gościniak P, Baron T, Milczarek S, Kostkiewicz M, Machaliński B.Updates for the diagnosis and management of cardiac amyloidosis.Adv Clin Exp Med. 2022;31(2):175-185. doi:10.17219/acem/142252Ommen SR, Mital S, Burke MA, et al.2020 AHA/ACC guideline for the diagnosis and treatment of patients with hypertrophic cardiomyopathy: a report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines.Circulation. 2020;142:e558–e631. doi:10.1161/CIR.0000000000000937Sivalokanathan S.The role of cardiovascular magnetic resonance imaging in the evaluation of hypertrophic cardiomyopathy.Diagnostics. 2022;12(2):314. doi:10.3390/diagnostics12020314Marian AJ, Braunwald E.Hypertrophic cardiomyopathy: genetics, pathogenesis, clinical manifestations, diagnosis, and therapy.Circ Res. 2017;121(7):749-770. doi:10.1161/CIRCRESAHA.117.311059
American Heart Association.Heart murmurs.
American Heart Association.Hypertrophic cardiomyopathy.
Gościniak P, Baron T, Milczarek S, Kostkiewicz M, Machaliński B.Updates for the diagnosis and management of cardiac amyloidosis.Adv Clin Exp Med. 2022;31(2):175-185. doi:10.17219/acem/142252
Ommen SR, Mital S, Burke MA, et al.2020 AHA/ACC guideline for the diagnosis and treatment of patients with hypertrophic cardiomyopathy: a report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines.Circulation. 2020;142:e558–e631. doi:10.1161/CIR.0000000000000937
Sivalokanathan S.The role of cardiovascular magnetic resonance imaging in the evaluation of hypertrophic cardiomyopathy.Diagnostics. 2022;12(2):314. doi:10.3390/diagnostics12020314
Marian AJ, Braunwald E.Hypertrophic cardiomyopathy: genetics, pathogenesis, clinical manifestations, diagnosis, and therapy.Circ Res. 2017;121(7):749-770. doi:10.1161/CIRCRESAHA.117.311059
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