What is Cardiomyopathy?

Overview

About Cardiomyopathy

Different types of cardiomyopathies interfere in different ways with the heart’s ability to pump blood.
They may change the way your heart functions (squeezes or relaxes), the way your heart is shaped
(enlargement of the chambers, thickening of the chamber walls), or the structure of the heart muscle
itself (differences such as scarring or a spongy appearance).

If the disease worsens, it can become more difficult for the heart to pump blood, sometimes leading to a
condition known as “heart failure,” which means that the weakening or stiffness has started to cause
other symptoms such as water retention.

Additionally, a heart with cardiomyopathy can have a harder time beating normally, which can result in
abnormal heart rhythms called arrhythmias. Arrhythmias may not necessarily lead to noticeable
symptoms but can still increase the risk for sudden cardiac death, stroke, and other complications. Other
complications of cardiomyopathy may include heart valve problems and pulmonary hypertension.

Catching cardiomyopathy early and getting proper treatment from experts gives you the best chance to
live a healthy life. Some people never experience serious problems related to their inherited
cardiomyopathy and may just need regular checkups. Some may need medications and possibly an
implanted device or procedure to protect against arrhythmia. A small number of people with severe
cardiomyopathy may need an implantable pump for mechanical support of the heart or a heart
transplant.

Generally, cardiomyopathy treatment tries to:

Reduce symptoms so they do not interfere with your day-to-day life

Target the cause of the disease, when possible

Slow or prevent damage to the heart muscle and the electrical system

Help the heart function better

Protect against dangerous complications such as arrhythmia, heart failure, sudden cardiac arrest, or
stroke

Symptoms

Cardiomyopathy Symptoms
Signs and symptoms of cardiomyopathy depend on the type of disease you have. Some people may not
experience symptoms at all but are still at risk for complications.

Other conditions can cause similar symptoms, so our experienced cardiology teams design a proper
evaluation to rule out other possible causes for your symptoms and make sure that you have an
accurate diagnosis.

Signs and symptoms of cardiomyopathy include:

Dizziness and lightheadedness

Fainting

Chest pain or pressure

Difference in how your heart sounds (murmur)

Difference in how your heart beats (arrhythmia)

Shortness of breath

Difficulty breathing, particularly during routine physical activity

Fatigue

Difficulty sleeping because of symptoms

Swelling in the ankles, feet, legs, abdomen (belly), or neck veins

Causes

Causes of Cardiomyopathy

Occasionally, doctors and medical teams cannot determine the exact cause of a particular
cardiomyopathy. Most of the time, however, they can place a case into one of two categories:

Acquired cardiomyopathy: Other cardiomyopathies are not inherited, but develop over time. Examples
of factors that can increase risk for cardiomyopathy include high blood pressure, heart valve disease,
toxic exposures, and side effects of chemotherapy or radiation therapy. Damage from a heart attack
brought on by coronary artery disease is also a major cause of acquired cardiomyopathy. This condition
is called ischemic dilated cardiomyopathy. We see people with acquired cardiomyopathy at our Heart
Failure and Cardiomyopathy Clinic.

History of heart attack

Inherited cardiomyopathy: The disease results from a genetic difference, which is typically passed down
from a parent. Other family members may also have the same genetic risk for cardiomyopathy and
should consult a specialized program such as the Stanford Center for Inherited Cardiovascular Disease.

Types

Types of Inherited Cardiomyopathy

We treat all types of inherited cardiomyopathy, which differ in their specific genetic causes, appearance
on heart tests, symptoms, complications, and treatments.

Arrhythmogenic cardiomyopathy (ACM): This type of cardiomyopathy causes heart muscle disease and
serious electrical changes that lead to life-threatening heart rhythms.

Arrhythmogenic right ventricular cardiomyopathy (ARVC): ARVC is a rare, inherited disease that affects
the heart muscle and has a more serious effect on the heart’s electrical system. It is associated with the
replacement of heart muscle by fibrous or fatty tissue. Treatments may include medications,
procedures, and implantable devices to protect you from life-threatening arrhythmia. Learn more about
arrhythmogenic cardiomyopathy (ACM) and arrhythmogenic right ventricular cardiomyopathy (ARVC).

Dilated cardiomyopathy (DCM): In some cases, the heart muscle weakens and the main pumping
chamber of the heart enlarges, causing the heart to pump less effectively. Dilated cardiomyopathy has
both acquired and inherited causes. Up to half of people with unexplained (sometimes called idiopathic
or non-ischemic) dilated cardiomyopathy actually have an inherited genetic cause. If needed, treatments
may include medication, lifestyle adjustments, implantable devices, or cardiac surgery. Read more about
dilated cardiomyopathy.

Hypertrophic cardiomyopathy (HCM): Typically inherited, this cardiomyopathy causes thickening of the
heart muscle. This thickening can interfere with the flow of blood as it leaves the heart. HCM can cause
other changes to the heart, including abnormal heart valve function and harmful heart rhythms.
Treatments may include medications, implantable devices, surgery, lifestyle adjustments, and
individualized exercise recommendations to keep you safe. Find out more about hypertrophic
cardiomyopathy.

Restrictive cardiomyopathy (RCM): With restrictive cardiomyopathy, the chambers of the heart become
stiff and cannot fill normally with blood, which leads to less oxygenated blood available for the body.
The cause is often genetic, and treatments vary depending on the cause of the stiffness. One genetic
cause is familial ATTR amyloidosis.

Left ventricular non-compaction (LVNC): LVNC occurs when the heart muscle wall in the main pumping
chamber (left ventricle) looks spongy. Some people whose heart appears this way do not have any
problems. But if the heart muscle appears or functions abnormally in other ways, it indicates a condition
called non-compaction cardiomyopathy, which can cause heart failure, arrhythmia, and stroke. Learn
more about left ventricular non-compaction cardiomyopathy.

Stress cardiomyopathy: This condition is sometimes called Takotsubo cardiomyopathy. It is a weakening

of the heart that comes on rapidly, typically triggered by severe emotional or physical stress. In many
cases, people recover completely from this type of cardiomyopathy.

Viral cardiomyopathy: This condition is sometimes called myocarditis and is a rapid-onset weakening of
the heart caused by an infection or the immune system’s response to infection. When someone
presents with an unexplained cardiomyopathy, a virus is sometimes suspected as the cause. In many
cases, these unexplained cardiomyopathies actually have a genetic cause. Our team can help work out
this likelihood.

Peripartum cardiomyopathy: Sometimes, dilated cardiomyopathy appears for the first time during
pregnancy or soon after delivery. In this case, we usually describe the condition as peripartum
cardiomyopathy. A significant portion of peripartum cardiomyopathy has been shown to result from an
underlying genetic risk that was triggered by the physical and hormonal changes that occur in
pregnancy, delivery, and while breastfeeding. Our team provides a careful evaluation, keeping inherited
causes in mind.

Diagnosis

Diagnostic Tests for Cardiomyopathy

If a genetic cause is suspected, we offer a comprehensive genetic evaluation, which includes a family
history risk assessment, genetic counseling, and genetic testing. Learn more about genetic testing,
counseling, and evaluation for heart disease.

The process of diagnosing a cardiomyopathy usually involves blood tests, rhythm monitoring
assessment, and various types of imaging to accurately assess your heart’s size and function. Our
specialists use the latest technologies and provide expert interpretation of the results:
Cardiac catheterization: After placing a needle in a wrist, neck, or groin, specialists thread a narrow tube
called a catheter through vessels toward your heart. During cardiac catheterization, we may take X-rays
after injecting contrast dye, a test called a coronary angiogram. During this type of test, we can also
more precisely measure the pressure in different parts of your heart and lungs to develop a more
individualized plan.

Computed tomography (CT) coronary angiogram: This innovative test provides another option for
examining coronary arteries. Instead of immediately performing a conventional angiogram to look for
blockages or narrowing, we create a 3-D image of your arteries. If the arteries are clear, you may not
need a cardiac catheterization. We use the latest scanners for CT coronary angiograms, with accurate
results and low radiation exposure.

Cardiac magnetic resonance imaging (MRI): Magnets, radio waves, and a computer produce high-
resolution still and moving images of the heart and its blood vessels. We can see heart valve
abnormalities and heart muscle damage with cardiac MRI.

Echocardiogram (echo): Ultrasound (sound waves) creates a moving picture of your heart. We use
echocardiograms to gauge the size, shape, and function of your heart. We can assess how blood moves
through the chambers and valves of your heart. An echo is usually performed by gliding the ultrasound
probe over your chest. This type of echo is called a transthoracic echocardiogram (TTE).

Electrocardiogram (ECG): We use electrocardiograms to record the heart’s electrical impulses, to look
for irregular heart rhythms or subtle changes to the electrical conduction.

Rhythm monitors: Wearable devices sometimes known as Holter monitors record the electrical signals
of your heart for a set period of time (usually for 14 to 30 days). Event monitors allow you to trigger
recording when you experience an abnormal heart sensation but also monitor your heart rhythm for
abnormalities that you may not feel.

Stress electrocardiogram (ECG) test: A stress ECG test checks your heart rhythm with an
electrocardiogram while you exercise on a treadmill or stationary bicycle. It can assess for coronary
artery disease or abnormal rhythms of the heart.

Stress echocardiogram (echo) test: A stress echo is similar to a stress ECG test but also includes a heart
ultrasound to take images of your heart before and after you exercise on the treadmill or stationary
bicycle.

Cardiopulmonary stress test (CPX): This highly specialized stress test uses a breathing mask to measure
the amount of oxygen you breath in and the amount of carbon dioxide you breath out. You will also
have an ECG and an echogardiogram. This breathing mask gives us a very accurate assessment of your
heart capacity and fitness. We use this information to tailor your medical recommendations and create a
personalized exercise program for you. Cardiopulmonary exercise testing is a specialized test that is
available only at certain centers.
Treatment

The goals of cardiomyopathy treatment are to:

Manage symptoms.

Keep the condition from getting worse.

Lower the risk of complications.

The type of treatment depends on the type of cardiomyopathy and how serious it is.

Medications

Many types of medicines are used to treat cardiomyopathy. Medicines for cardiomyopathy can help:

Improve the heart's ability to pump blood.

Improve blood flow.

Lower blood pressure.

Slow heart rate.

Remove extra fluid and sodium from the body.

Prevent blood clots.

Therapies

Ways to treat cardiomyopathy or an irregular heartbeat without surgery include:

Septal ablation. This shrinks a small part of the thickened heart muscle. It's a treatment option for
hypertrophic cardiomyopathy. A doctor threads a thin tube called a catheter to the affected area. Then,
alcohol flows through the tube into the artery that sends blood to that area. Septal ablation lets blood
flow through the area.

Other types of ablation. A doctor places one or more catheters into blood vessels to the heart. Sensors
at the catheter tips use heat or cold energy to create tiny scars in the heart. The scars block irregular
heart signals and restore the heartbeat.

Surgery or other procedures

Somes types of devices can be placed in the heart with surgery. They can help the heart work better and
relieve symptoms. Some help prevent complications. Types of cardiac devices include:

Ventricular assist device (VAD). A VAD helps pump blood from the lower chambers of the heart to the
rest of the body. It's also called a mechanical circulatory support device. Most often, a VAD is considered
after less invasive treatments don't help. It can be used as a long-term treatment or as a short-term
treatment while waiting for a heart transplant.

Pacemaker. A pacemaker is a small device that's placed in the chest to help control the heartbeat.

Cardiac resynchronization therapy (CRT) device. This device can help the chambers of the heart squeeze
in a way that's more organized and efficient. It's a treatment option for some people with dilated
cardiomyopathy. It can help those with ongoing symptoms, along with signs of a condition called left
bundle branch block. The condition causes a delay or blockage along the pathway that electrical signals
travel to make the heart beat.

Implantable cardioverter-defibrillator (ICD). This device may be recommended to prevent sudden

cardiac arrest, which is a dangerous complication of cardiomyopathy. An ICD tracks heart rhythm and
gives electric shocks when needed to control irregular heart rhythms. An ICD doesn't treat
cardiomyopathy. Rather, it watches for and controls irregular rhythms.

Types of surgery used to treat cardiomyopathy include:

Septal myectomy. This is a type of open-heart surgery that can treat hypertrophic cardiomyopathy. A
surgeon removes part of the thickened heart muscle wall, called a septum, that separates the two
bottom heart chambers, called ventricles. Removing part of the heart muscle improves blood flow
through the heart. It also improves a type of heart valve disease called mitral valve regurgitation.

Heart transplant. This is surgery to replace a diseased heart with a donor's healthy heart. It can be a
treatment option for end-stage heart failure, when medicines and other treatments no longer work.

Conclusion:

Cardiomyopathy is a complex condition that affects the heart muscle, leading to impaired heart
function. It can manifest in various forms, including dilated, hypertrophic, and restrictive
cardiomyopathy, each with its unique characteristics and underlying causes. While some cases of
cardiomyopathy may be genetic, others can result from conditions such as hypertension, myocarditis, or
exposure to toxins. Diagnosis often involves a combination of medical history, physical examination,
imaging tests, and cardiac catheterization. Treatment strategies aim to manage symptoms, improve
heart function, and address underlying causes. These may include medications, lifestyle changes,
implantable devices, or, in severe cases, heart transplantation. Ongoing research into the mechanisms
and treatment options for cardiomyopathy continues to advance our understanding of this challenging
condition.

Bibliography:

Maron, B. J., Maron, M. S., & Semsarian, C. (2012). Genetics of hypertrophic cardiomyopathy after 20
years: clinical perspectives. Journal of the American College of Cardiology, 60(8), 705-715.

Elliott, P., Andersson, B., Arbustini, E., Bilinska, Z., Cecchi, F., Charron, P., ... & Watkins, H. (2008).
Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology
Working Group on Myocardial and Pericardial Diseases. European heart journal, 29(2), 270-276.