Symptoms and Diagnosis of Cardiomyopathy

Updated:Sep 2,2016

Senior Doctor Talking to Senior Patient Some people with cardiomyopathy never have signs or symptoms, so it's important to identify those who may be at high risk. Others don't have signs or symptoms in the early stages of the disease. Signs and symptoms of heart failure usually occur later as the heart weakens.

These signs and symptoms include:

  • Shortness of breath or trouble breathing, especially with physical exertion
  • Fatigue
  • Swelling in the ankles, feet, legs, abdomen and veins in the neck
Additional signs and symptoms may include dizziness; light-headedness; fainting during physical activity; arrhythmias (irregular heartbeats); chest pain, especially after physical exertion or heavy meals; and heart murmurs. Heart murmurs are extra or unusual sounds heard during a heartbeat.

How Is Cardiomyopathy Diagnosed?
Your doctor will diagnose cardiomyopathy based on your medical and family histories, a physical exam and test results.

Specialists Involved
Often, a cardiologist or pediatric cardiologist diagnoses and treats cardiomyopathy. These doctors specialize in heart diseases.

Medical and Family Histories
Your doctor will want to learn about your medical history and will want to know what signs and symptoms you have. Your doctor also will want to know whether anyone in your family has had cardiomyopathy, heart failure, or sudden cardiac arrest.

Physical Exam
Using a stethoscope, your doctor will listen to your heart and lungs for sounds that may suggest cardiomyopathy and may even suggest a certain type of the disease. For example, the loudness, timing and location of a heart murmur may suggest obstructive hypertrophic cardiomyopathy. A "crackling" sound in the lungs may be a sign of heart failure

Certain physical signs also help your doctor diagnose cardiomyopathy. Swelling of the ankles, feet, legs, abdomen or veins in your neck suggests fluid buildup, a sign of heart failure.

Diagnostic Tests
Your doctor may recommend one or more of the following tests to diagnose cardiomyopathy.
  • Blood Tests - A small amount of blood is taken usually drawn from a vein in your arm using a needle. The procedure typically quick and easy, though it may cause temporary discomfort. 
  • Chest X Ray - A chest x ray takes pictures of the organs and structures inside your chest, such as your heart, lungs, and blood vessels, and can show whether your heart is enlarged. It can also show whether fluid is building up in your lungs.
  • EKG (Electrocardiogram) - An EKG records the heart's electrical activity, showing how fast the heart is beating and whether its rhythm  is steady or irregular. The test records the strength and timing of electrical signals passing through each part of the heart. An EKG is used to detect and study many heart problems, including heart attacks, arrhythmias (irregular heartbeats) and heart failure. EKG results can suggest other disorders. A standard EKG only records the heartbeat for a few seconds and will only detect problems that happen during the test. To diagnose heart problems that come and go, your doctor may have you wear a portable EKG monitor. 
  • Holter and Event Monitors - Holter and event monitors are small, portable devices that record your heart's electrical activity during your normal daily activities. A Holter monitor records the heart's electrical activity for a full 24- or 48-hour period. An event monitor records your heart's electrical activity only at certain times while you're wearing it. For many event monitors, you push a button to start the monitor when you feel symptoms. Others start automatically when they sense abnormal heart rhythms.
  • Echocardiography - Echocardiography (echo) is a test that uses sound waves to create a moving picture of your heart. It shows how well your heart is working and its size and shape. There are several types of echo, including stress echo, which is done as part of a stress test. Stress echo can show whether you have decreased blood flow to your heart, a sign of coronary heart disease.

    Another type of echo is transesophageal echo, or TEE. TEE provides a view of the back of the heart. A sound wave wand is put on the end of a special tube that is gently passed down your throat and into your esophagus. Because this passage is right behind the heart, TEE can create detailed pictures of the heart's structures. Before TEE, you're given medicine to help you relax, and your throat is sprayed with numbing medicine. Learn more about echocardiography.
  • Stress Test -  During stress testing, you exercise or are given medicine if you're unable to exercise. The aim is to make your heart work hard and beat fast while heart tests are done.

    These tests may include nuclear heart scanning, echo, and positron emission tomography (PET) scanning of the heart.
Diagnostic Procedures
Confirming a diagnosis may involve one or more medical procedures, or a procedure may be used to prepare for surgery, if surgery is planned. These procedures may include cardiac catheterization, coronary angiography, or myocardial biopsy.
  • Cardiac Catheterization - This procedure checks the pressure and blood flow in your heart's chambers. It also allows your doctor to collect blood samples and look at your heart's arteries using X-ray imaging. During cardiac catheterization, a long, thin, flexible tube called a catheter is put into a blood vessel in your arm, groin, or neck and threaded to your heart, allowing your doctor to study the inside of your arteries for blockages. 
  • Coronary Angiography - This procedure often is done with cardiac catheterization. Dye that can be seen on an X-ray is injected into your coronary arteries. The dye lets your doctor study blood flow through your heart and blood vessels. Dye also may be injected into your heart chambers allowing your doctor to study the pumping function of your heart. 
  • Myocardial Biopsy - In this procedure, your doctor removes a piece of your heart muscle, which can be done during cardiac catheterization. The muscle is studied under a microscope to see whether changes in cells have occurred, which may suggest cardiomyopathy. 
  • Genetic Testing - Your doctor may suggest genetic testing to look for the disease in your parents, brothers and sisters or other family members. Genetic testing can show how the disease runs in families and can find out the chances of parents passing the genes for the disease on to their children. Genetic testing also may be useful if your doctor thinks you have cardiomyopathy, but you don't yet have signs or symptoms. If the disease is detected, your doctor can start treatment early, when it may work best.
This content was last reviewed March 2016.

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Source: National Heart, Lung, and Blood Institute, National Institutes of Health, U.S. Department of Health and Human Services

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