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How is heart muscle disease, or cardiomyopathy, diagnosed?

Heart muscle diseases can affect anyone, and can be very dangerous if not discovered on time. For this reason, it is very important to check your heart health regularly. That way, you can reduce the odds of having this condition or prevent the possibility of complications if the heart muscle is already affected.

What is cardiomyopathy?

Cardiomyopathy is a general term for a group of diseases that affect the heart muscle, causing it to change in size and shape. As a consequence it reduces your heart's ability to pump blood around the body as it normally would. Most patients don’t have any signs or symptoms, and need no treatment, at least in the early stages. 

Over time, as the condition worsens, the heart muscle gradually becomes weaker, leading to problems with the normal way your heart beats, as well as an inability to transport blood to distant tissues. This is why it is important to recognize patients who belong to the “high risk” category, as cardiomyopathy can lead to heart failure.

There are four main types of cardiomyopathy:

  • Dilated cardiomyopathy (also known as an “enlarged heart”) is the most common form, in which the chambers of your heart become stretched, making the heart muscle thin, loose, and unable to pump blood efficiently.
  • Hypertrophic cardiomyopathy, in which the heart muscle becomes thick and stiff, preventing it from pumping blood out of your heart.
  • Restrictive cardiomyopathy, where the heart muscle becomes stiff but doesn’t thicken, thereby preventing the chambers from relaxing enough to allow the entrance of blood to the heart.
  • Arrhythmogenic right ventricular dysplasia (ARVD) is a rare form of cardiomyopathy in which the muscle tissue is replaced by fatty tissue, affecting normal heart rhythm. 

Should I see a doctor?

No matter what type of cardiomyopathy you may have, all the symptoms are pretty similar. They are mostly caused by the heart’s inability to pump enough blood to the rest of the body.

The main symptoms include:

  • Overall weakness and tiredness
  • Shortness of breath (especially during physical activity) 
  • Chest pain
  • Palpitations (fast, pounding heartbeats)
  • Dizziness
  • Swelling of your feet, ankles, legs, belly, and neck veins
Keep in mind that symptoms do not have to be present in all patients.

How is cardiomyopathy diagnosed?

Cardiologists specialize in the diagnosis and treatment of heart diseases. Their first step will be to take your personal history, so they can familiarize themselves with how and when the symptoms appear. Your family history is also significant, because some cardiomyopathies can be inherited.

Next, they will listen to your heart and lungs using a stethoscope, as they try to find signs of cardiomyopathy, such as abnormal heart sounds, or crackling in the lungs, suggesting water on the lung, which can be a sign of heart failure. Swelling of your legs and belly can also imply fluid buildup.

These signs alone are not specific enough for doctors to confirm their diagnosis, so they may suggest that you undergo some of the following tests.

1. Blood tests

A blood test involves taking a small blood sample from your arm. A lab analysis will show specific proteins produced in the heart, which indicates how severe the damage is. Besides a complete blood count, your medical team may check your liver, kidney, and hormone status. Also, genetic tests can be useful to discover hereditary heart diseases.

2. EKG (electrocardiography)

EKG is a quick and simple test that measures your heart’s electrical activity using small electrodes attached to your body. It is routinely used to check heart rhythm and strength. EKG results are used to detect any disorder affecting normal heart function. The drawback of this method is that it won’t detect any problems unless they happen during the examination.

3. Holter and event monitors

Unlike EKG, these monitors record your heart’s activity for longer periods of time. Your doctor will recommend the best type of monitor and explain how to wear it and what you can and cannot do. Usually, you’ll need to avoid metal detectors and electronic appliances while wearing it. Also, you will be asked to write down your daily activities so the doctor will have all the information needed to evaluate your heart's condition.

4. Exercise stress test

Some heart issues are better diagnosed during physical activity, when your heart works at full capacity. In a standard stress test, EKG is used to monitor your heart's condition as you walk on the treadmill, first slowly, then increasing the pace. In some cases, doctors might want to visualize your blood flow, the movements of your heart muscles and valves, so they will order an imaging stress test, which is more precise, but not as convenient.

5. Echo (echocardiography, or heart ultrasound)

Using a machine that transforms sound waves into visual images, doctors can gain insight into the size and shape of your heart, as well as its function in real time. TEE (transesophageal echo) is a similar, although more unpleasant, method in which the probe is passed through your esophagus, which is located just behind your heart. Because of its location, doctors can visualize the heart in more detail.

6. Chest X-ray

Radiologists can see if your heart is enlarged, as well if fluid is building up in your lungs. Although it uses ionizing radiation, the dose you receive is very low. You shouldn’t worry about the consequences, as the risks are minimal compared to the benefits.

7. Cardiac CT

Another imaging method done with the help of X-rays, used to show your heart in bigger resolution and better quality, with the ability to reconstruct the image in 3D. It lasts somewhat longer than an X-ray, but due to relatively high doses of radiation, it’s not recommended to all patients, at least until your cardiologist analyzes the risk-benefit ratio.

8. Heart MRI

A similar imaging method to cardiac CT, although it uses powerful magnetic fields instead of X-rays, so it's comparably safer. Because the MRI captures soft tissues better than a CT, it can show images of the heart with better precision. The downside is that the examination can last up to an hour, and you aren’t supposed to move during it. This can be hard because of loud banging noises the machine makes. Also, the small space you are in can be a bit uncomfortable.

9. Cardiac catheterization

Cardiac catheterization is an invasive procedure during which a long, thin tube (a catheter) is inserted in your blood vessels in the neck, arm, or most commonly groin, and it is pushed up all the way to the heart with the navigational help of X-rays. This way doctors can precisely measure blood flow and evaluate heart function. If a special kind of dye called a contrast agent is injected through the catheter, we’re talking about a procedure called coronary angiography. In emergencies, such as a heart attack, surgeons may implant a stent, which is a small wire or plastic mesh that keeps the now unclogged blood vessels from closing, saving the patient's life.

10. Heart biopsy

During catheterization, surgeons, using special tools, may remove a small piece of your heart muscle, which is later examined under the microscope. This procedure, done relatively rarely, can help in evaluating weak heart muscle cells, thus helping in diagnosing the disease if the results of previous procedures are not certain enough.

  • Photo courtesy of SteadyHealth

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