Tests and diagnosis

By Mayo Clinic Staff

Your doctor is likely to recommend echocardiography. This imaging test allows your doctor to see whether your heart muscle is abnormally thick, your blood flow is obstructed and your heart valves are moving normally.

Types of echocardiography include:

  • Transthoracic echocardiogram (ECG). Gel is spread on your chest, and a device (transducer) is pressed firmly against your skin. The transducer aims an ultrasound beam through your chest to your heart, producing moving images of the working of the heart.
  • Transesophageal echocardiogram. A flexible tube containing a transducer is guided down your throat and into the tube connecting your mouth and stomach (esophagus). From there, the transducer can obtain more-detailed images of your heart. Although rarely done, this test may be recommended if it's difficult to get a clear picture of your heart with a standard echocardiogram or if the doctor wants to further examine your mitral valve.

Additional tests might be done to look for other effects of hypertrophic cardiomyopathy and help determine appropriate treatment. These additional tests include:

  • Treadmill stress test. Your heart rhythm, blood pressure and breathing are monitored with echocardiography while you walk on a treadmill. Your doctor may recommend an exercise stress test if you have symptoms but standard echocardiogram doesn't show obstructed blood flow.
  • Holter monitor, a portable ECG that records your heart's activity continuously over one to two days.
  • Cardiac catheterization, which measures the pressure of blood flow inside your heart. A catheter is inserted into an artery, usually in your groin area. The catheter is then carefully threaded to your heart chambers under guidance of an X-ray machine. Dye is injected through the catheter, and the X-ray machine makes images (angiograms) of your heart and blood vessels.
  • Cardiac MRI, which uses magnetic fields and radio waves to create images of your heart. Cardiac MRI is often used in addition to echocardiography if the echocardiogram is inconclusive.

Family screening

If you have a first-degree relative — parent, sibling or child — with hypertrophic cardiomyopathy, doctors may recommend that you be screened for the condition. There are two types of screening:

  • Genetic testing. Genetic tests may not provide a definitive answer because the genetic causes of hypertrophic cardiomyopathy aren't fully understood. Only 50 to 60 percent of families with HCM have a currently detectable mutation. Insurance companies may not cover genetic testing. Talk with your doctor about whether genetic testing could be an option for you.
  • Echocardiography. If genetic testing is not done, or if the results are not helpful, then your doctor may recommend regular echocardiography. Adolescents and competitive athletes should be screened once a year. Adults who don't compete in athletics should be screened every five years.
Sep. 05, 2014

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