Cardiomyopathy

Diagnosis

Because there are different types of cardiomyopathy, various diagnostic methods may be used. Initially, your doctor will perform a physical exam and blood tests and ask about any symptoms and family history. Your doctor may then recommend specific heart tests, including the following:

• Electrocardiogram (ECG or EKG) – This test records the electrical activity in your heart. It can detect abnormalities in your heart's rhythm and certain patterns that suggest portions of the heart may not get enough blood flow. It can also detect abnormal enlargement or thickening of the pumping chambers, which occur with cardiomyopathy.
• Echocardiogram (echo, Doppler, or heart ultrasound) – This noninvasive test uses sound waves to create a moving picture of your heart and provides more specific information regarding the kind of cardiomyopathy.
• Event monitor (recorder) – This wearable device records the electrical activity of your heart periodically for up to one month.
• Computerized tomography (CT) scan/cardiac magnetic resonance imaging (MRI) – These 3D tests can provide a detailed assessment of the heart muscle and the functioning of the pumping chambers and heart valves. They can also be used to look for scars or abnormalities in the heart muscle and to evaluate the sac surrounding the heart (called the pericardium).
• Myocardial biopsy – This procedure involves the removal of a tiny piece of the heart muscle, which is examined under a microscope to detect any changes to the structure of the muscle itself.
• Cardiac catheterization/angiogram ­– This test involves inserting catheters into the blood vessels and directing them to the various heart chambers and lung arteries to determine the pressures in each area. This can help diagnose the specific type of cardiomyopathy.
• Chest X-ray – A chest X-ray produces an image of the inside of the chest showing the bones, heart, and blood vessels and can show if your heart muscle is enlarged or fluid buildup in the lungs.
• Stress test – This test can identify problems that may be more visible when your heart muscle is working harder and usually involves you walking or running on a treadmill or pedaling a stationary bicycle, followed by an imaging test to evaluate how much blood flow is getting to your heart and how effectively your heart is pumping.

A note on genetic testing

Many people with cardiomyopathy ask about genetic testing because it tends to run in families, and some genetic tests can suggest whether an individual is predisposed to develop the condition. Genetic tests do not predict that you will develop a condition, only that you have markers that suggest you might.

Genetic tests can help to confirm the type of cardiomyopathy. Some people with cardiomyopathy undergo genetic tests to help them understand what health risks any children they have may face.

Genetic tests currently cannot diagnose all types of cardiomyopathy, but our understanding of cardiomyopathies continues to grow as more genes are discovered.