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Hypertrophic cardiomyopathy can be difficult to diagnose because it may not always cause symptoms. The first step in diagnosing heart problems is a thorough medical history and physical exam.

Your doctor will ask you about any family history of hypertrophic cardiomyopathy or any heart disease. Your doctor will also want to know if any relatives died an early and sudden death. Sometimes when young people die of cardiac arrest from hypertrophic cardiomyopathy, the disorder is not discovered because autopsies are not always performed.

During the physical exam, your doctor will listen to your heart with a stethoscope. If any extra or unusual heart sounds (gallops or murmurs) are heard, it may mean the structure of the heart is abnormal.

You will usually have one or more of the following tests to help your doctor diagnose and treat your condition.

The health care provider will perform a physical exam and listen to the heart and lungs with a stethoscope. Listening with a stethoscope may reveal abnormal heart sounds or a murmur. These sounds may change with different body positions.

The pulse in your arms and neck will also be checked. The doctor may feel an abnormal heartbeat in the chest.

Tests used to diagnose heart muscle thickness, problems with blood flow, or leaky heart valves (mitral valve regurgitation) may include:

1.Transesophageal echocardiogram (TEE)
2.MRI of the heart
3.Echocardiography (the most common test) with Doppler ultrasound
4.ECG
5.Chest X-Rray
6.Cardiac catheterization
7.24-hour Holter monitor (heart monitor)

Blood tests may be done to rule out other possible diseases.

If you are diagnosed with hypertrophic cardiomyopathy, your health care provider may recommend that your close blood relatives (family members) be screened for the condition.

Hypertrophic Cardiomyopathy Tests and Diagnosis

1.Cardiac MRI:Cardiac magnetic resonance imaging (MRI) is an imaging technique that uses magnetic fields and radio waves to create images of your heart. Cardiac MRI is often used in addition to echocardiography, particularly if the echocardiographic images are not conclusive.

2.Cardiac catheterization:Sometimes your doctor may use this test to measure the pressure of blood flow inside your heart. A catheter is inserted into an artery, starting in your groin area. It’s then carefully threaded to your heart chambers under guidance of an X-ray machine that shows real-time images of your body. Dye is injected through the catheter, and the X-ray machine makes images (angiograms) of your heart and blood vessels.

3.Holter Monitor:This is a portable ECG that records a continuous electrocardiogram of your heart, usually over the course of one to two days. It’s used to detect abnormal heart rhythms.

4.Electrocardiogram (ECG):This test records the electrical activity of your heart. It’s done to detect abnormal electrical signals that may result from the thickened heart muscle.

5.Transesophageal echocardiogram:In this type of echocardiogram, a flexible tube containing a transducer is guided down your throat and into your esophagus, which connects your mouth to your stomach. From there, the transducer can get more-detailed images of your heart. Your doctor might order a transesophageal echocardiogram if it’s difficult to get a clear picture of your heart with a standard echocardiogram or if he or she wants to further examine your mitral valve.

6.Transthoracic echocardiogram:This is a standard echocardiogram. A technician (sonographer) spreads gel on your chest and then presses a device known as a transducer firmly against your skin, aiming an ultrasound beam through your chest to your heart. The transducer also detects sound wave echoes reflected by internal structures. A computer converts the echoes into moving images on a monitor. If your lungs or ribs obscure the view, a small amount of intravenous dye may be used to improve the images.

Testing approaches for first-degree relatives
Genetic tests are available that may be able to help your doctor diagnose hypertrophic cardiomyopathy. However, the genetic causes of hypertrophic cardiomyopathy aren’t fully understood. There are more than 10 genes identified so far that can make you more susceptible to hypertrophic cardiomyopathy.

Because of the complex nature of how your genes interact, genetic tests often don’t give a definitive answer. In addition, insurance companies may not cover the testing. Talk with your doctor about whether genetic testing could be an option for you.

A diagnosis of hypertrophic cardiomyopathy is based upon a number of features of the disease process. While there is use of echocardiography, cardiac catheterization, or cardiac MRI in the diagnosis of the disease, other important factors include ECG and genetic test findings and if there is any family history of HCM or unexplained sudden death in otherwise healthy individuals.

Cardiac catheterization
Upon cardiac catheterization, catheters can be placed in the left ventricle and the ascending aorta, to measure the pressure difference between these structures. In normal individuals, during ventricular systole, the pressure in the ascending aorta and the left ventricle will equalize, and the aortic valve is open. In individuals with aortic stenosis or with HCM with an outflow tract gradient, there will be a pressure gradient (difference) between the left ventricle and the aorta, with the left ventricular pressure higher than the aortic pressure. This gradient represents the degree of obstruction that has to be overcome in order to eject blood from the left ventricle.

The Brockenbrough–Braunwald–Morrow sign is observed in individuals with HCM with outflow tract gradient. This sign can be used to differentiate HCM from aortic stenosis. In individuals with aortic stenosis, after a premature ventricular contraction (PVC), the following ventricular contraction will be more forceful, and the pressure generated in the left ventricle will be higher. Because of the fixed obstruction that the stenotic aortic valve represents, the post-PVC ascending aortic pressure will increase as well. In individuals with HCM, however, the degree of obstruction will increase more than the force of contraction will increase in the post-PVC beat. The result of this is that the left ventricular pressure increases and the ascending aortic pressure decreases, with an increase in the LVOT gradient.

While the Brockenbrough–Braunwald–Morrow sign is most dramatically demonstrated using simultaneous intra-cardiac and intra-aortic catheters, it can be seen on routine physical examination as a decrease in the pulse pressure in the post-PVC beat in individuals with HCM.