Nora Eccles Harrison Cardiovascular Research & Training Institute

Breaking Down the Treatment Options for Cardiomyopathy

Breaking Down the Treatment Options for Cardiomyopathy

3d rendered medical illustration of male anatomy - cardiovascular system. plain black background. professional studio lighting.

Cardiomyopathy is a condition that is a significant and potentially life-threatening ailment. This problem occurs when the heart muscle gets weaker and cannot pump blood effectively. Dilated cardiomyopathy, hypertrophic cardiomyopathy, and restricted cardiomyopathy are some of the forms that it can take.

The treatment of cardiomyopathy calls for an all-encompassing strategy that incorporates alterations to one’s way of life, the use of drugs, and, in certain instances, the implementation of modern medical treatments. In this article, we will investigate the many treatment choices that are accessible to those diagnosed with cardiomyopathy, as well as the signs and causes.

What Causes Cardiomyopathy?

Heart muscle conditions, also known as cardiomyopathy, make the heart muscle weaker, reducing its ability to perform. Genetics often plays a big part, with inherited DNA mutations increasing the risk of being diagnosed with the condition. Also, some viruses, like viral infections, may cause cardiomyopathy.

Long-term exposure to high blood pressure, drinking too much alcohol, and some autoimmune diseases are also possible reasons. The fact that it can be caused by genetic, environmental, and lifestyle factors shows how multifactorial cardiomyopathy is, which is why it is important to get a full medical exam and find a treatment plan that works for each person.

Treatment Options for Cardiomyopathy

Treatment options for this condition will vary from person to person, but some of the most common are detailed below:

Modifications to Lifestyle: Managing cardiomyopathy begins with the adoption of a healthy lifestyle. It is common practice to recommend to patients that they make substantial adjustments to their routines to effectively manage the condition. These alterations include changes in their diet, creating and maintaining a regular exercise plan, and making healthy choices like reducing the use of tobacco and alcohol, to name a few.

Pharmacological Therapies: Medication is often an essential component in the management of cardiomyopathy. Commonly prescribed medications include Angiotensin-Converting Enzyme (ACE) Inhibitors, beta-blockers, and the use of diuretics.

Finally, anticoagulants may be administered in certain circumstances, particularly in cases where cardiomyopathy is linked with atrial fibrillation, to avoid blood clots and lower the risk of stroke.

Additional Treatment Options: Beyond the treatment options listed above, there are a few others that might be considered. These include ICDs, implantable cardioverter-defibrillators, or Cardiac Resynchronization Therapy (CRT). CRT involves the implantation of a device that is responsible for coordinating the contractions of the ventricles of the heart. When it comes to some instances of heart failure that are related to cardiomyopathy, this can be useful.

A third option, Ventricular aid Devices (VADs), involves the use of mechanical pumps that insert themselves into the chest to aid the heart in pumping blood. In extreme situations of heart failure, they are frequently utilized as a transitional step on the path to heart transplantation.

What Are the Signs of Cardiomyopathy?

Since cardiomyopathy comes in several different forms, each type may have its own set of symptoms. Still, there are some typical signs, such as the four listed below, that could mean you have cardiomyopathy.

Shortness of Breath (Dyspnea): People who have cardiomyopathy may have shortness of breath or trouble breathing, especially when they are moving around or lying down.

Fatigue: Feeling tired and weak all the time can be a sign of cardiomyopathy. This could be because the heart isn’t able to pump blood as well as it should to meet the body’s needs.

Swelling: When cardiomyopathy is the culprit, the heart pumps less efficiently, which makes fluid buildup in the body’s organs. The result of this is swelling in the legs, ankles, feet, and belly.

Pain or Chest Discomfort: Some people with cardiomyopathy may feel pain or discomfort in the chest, but this isn’t always the case, which is why it’s essential to know the other three symptoms and consult with a medical professional when concerns arise.

It’s important to remember that these symptoms can also be signs of other heart or lung problems. If you have any symptoms that don’t go away or are worrying you, it’s essential to see a doctor.

Conclusion

The therapeutic landscape for cardiomyopathy is diverse and multimodal, which is reflective of the complexity of this disorder. It is often the case that the key to properly controlling cardiomyopathy and enhancing the quality of life for those who are affected by it is to adopt a comprehensive strategy that incorporates lifestyle modifications and modern treatment methods.

There is hope that, as research and medical developments continue, more targeted and individualized medications will emerge, which will further improve the prognosis for those who are struggling with this tough cardiac issue.

Genetics and Cardiomyopathy: Unraveling the Role of Inherited Heart Conditions

Is Cardiomyopathy Hereditary? Unraveling the Role of Familial/Inherited Heart Conditions

hands holding beeping heart

Is cardiomyopathy genetically inherited? Cardiomyopathy is a problem that makes it harder for your heart to pump blood as it should. This condition has many causes and can affect people of all ages. Depending on the type of cardiomyopathy a person has, the heart muscle may become thicker, larger, or stiffer than it should be.

These issues lead to weaker hearts, irregular heartbeat, heart failure, or even cardiac arrest. But is this something you inherit through your genes? This guide will help explain the role of your genes in familial hypertrophic cardiomyopathy.

Is There a Genetic Cause of Dilated and Hypertrophic Cardiomyopathy?

Cardiomyopathy can be inherited through genes or acquired through another condition. Depending on the type of cardiomyopathy a patient has, there may be a genetic mutation or variants to blame for the condition.

For example, familial hypertrophic cardiomyopathy has been linked to variants in the following genes:

  • MYH7
  • MYBPC3
  • TNNT2
  • TNNI3

In contrast, familial dilated cardiomyopathy has been linked to mutations in more than 30 different genes, with TTN accounting for about 20 percent of all cases. The genes affected by the mutations in both inherited cardiomyopathies provide instructions for making the proteins found in cardiac muscle cells. Mutations in the genes of a patient can lead to proteins not doing what they should.

How Does Genetics Play a Role in Heart Disease?

Your genes affect everything about you, from your appearance to your blood type. Genes have also shown the ability to play a role in your chances of developing heart disease. If you have a family history of heart disease, such as in your parents or siblings, you have an increased risk of developing the same disease.

For example, research has shown that 50 percent of a person’s risk of developing coronary artery disease (CAD) is determined at birth by their genetic makeup. Lifestyle factors determine the other 50 percent as the person ages. If there’s a family history of early-onset heart disease (especially when the people affected live healthy lives), it’s worth considering you may have a genetic disposition to heart disease.

Forms of Familial Hypertrophic Cardiomyopathy

Concerning familial hypertrophic cardiomyopathy, four forms of this condition have higher chances of being genetic. If you or an immediate family member have any of these conditions, it’s worth undergoing genetic testing to see if the issue is inherited:

  • Hypertrophic cardiomyopathy (thickening of the heart walls)
  • Dilated cardiomyopathy (enlargement and weakening of the heart)
  • Arrhythmogenic right ventricular cardiomyopathy (fatty tissue in the heart that causes irregular heart rhythms)
  • Restrictive cardiomyopathy (stiffened heart muscle)

What Is the Genetic Inheritance of Restrictive Cardiomyopathy (Cardiovascular Disease)?

Individuals with restrictive cardiomyopathy have stiff heart muscles that cannot fully relax after each contraction, causing blood back up in the atria and lungs while reducing the blood that makes it to the ventricles. In most cases of restrictive cardiomyopathy, genetic inheritance is to blame. A parent with the genetic mutation has a 50 percent chance of passing the same mutation on to their child.

Several genes have been connected to familial restrictive cardiomyopathy, with mutations in the TNNI3 gene being the most common cause. This gene provides instructions for making the cardiac troponin I protein, which is found in the heart and helps regulate the contraction and relaxation of the heart muscle.

Restrictive cardiomyopathy is inherited in an autosomal dominant pattern. This means that just one copy of the mutated gene in each cell is enough to cause the disorder. Restrictive cardiomyopathy is the least common type of cardiomyopathy, accounting for about five percent of all cases of familial hypertrophic cardiomyopathy.

However, many people can have the condition without showing any symptoms, so it’s vital to undergo genetic testing if anyone in your family has been diagnosed with this form of familial cardiomyopathy. Even without symptoms present, those with this inherited cardiovascular disease are at risk of severe complications such as heart failure and sudden cardiac arrest.

Final Thoughts

Lifestyle choices can cause cardiomyopathy, but many cases are also connected to a person’s genetic makeup. If your family has a history of cardiomyopathy, you must visit your doctor and undergo hereditary cardiomyopathy genetic testing to see if you have gene mutations that can cause the same condition. Many people can have familial hypertrophic cardiomyopathy and not realize it until severe complications arise, which is why the testing is so important, so you know when to seek immediate care and treatment.

If you are at risk for genetic cardiomyopathy, it’s crucial to do all you can to lead a healthy lifestyle to help prevent the onset of conditions. A healthy diet and regular cardiovascular exercise may sometimes help offset the risk factor. Early testing and diagnosis can be the key to living a healthy life with genetic cardiomyopathy.

What is Arrhythmogenic Cardiomyopathy?

What is Arrhythmogenic Cardiomyopathy and What are its Symptoms?

3D illustration of Heart, medical concept.

Arrhythmogenic cardiomyopathy (ACM) is a genetic condition that causes damage to the heart muscle and one or both ventricles. The damage replaces the heart muscle tissue with fibrosis scar tissue and fat. It is the second most common cause of death in young athletes.

Arrhythmogenic cardiomyopathy impacts the heart’s normal transmission of electrical signals, which classifies it as a heart rhythm disorder. This condition can lead to heart failure or sudden cardiac death. The risk of sudden death increases with both exercise and age.

There are three types of arrhythmogenic cardiomyopathy based on the location of the damage:

  • Arrhythmogenic right ventricular cardiomyopathy: affects the right ventricle
  • Left dominant arrhythmogenic cardiomyopathy affects the left ventricle
  • Biventricular arrhythmogenic cardiomyopathy: affects both ventricles

It is seen in families and is a genetic disorder. However, some families have a stronger history of arrhythmogenic cardiomyopathy. There is no link between this disorder and environmental conditions. Arrhythmogenic cardiomyopathy doesn’t discriminate; patients of all ethnic backgrounds and nationalities can have this condition. Typically, this heart disease is common in adults in their 20s or 30s. Sometimes this disease presents in children and other times in later adulthood.

Symptoms

Common Symptoms of Arrhythmogenic Cardiomyopathy Include:

  • Rapid palpitations
  • Sudden loss of consciousness
  • Lightheadedness
  • Heart failure
  • Cardiac arrest
  • Inflammation of the heart muscles
  • Swelling in the lower limbs

Some patients may have cracks in the skin of their palms and feet, brittle and/or kinky hair, and changes in their teeth.

Arrhythmogenic Cardiomyopathy Diagnosis & Treatment

Arrhythmogenic cardiomyopathy resembles other heart disorders. Because of the similarities, misdiagnosing this condition is, unfortunately, common. For an accurate diagnosis, a physician will complete a physical exam and perform imaging tests of the heart. If possible, they will also perform genetic testing. Physicians may choose to skip the genetic test if patients have a documented history of family members with the condition. If a patient’s genetic testing comes back as positive, the physician may need to encourage relatives to get tested for the disorder as well.

The only cure for arrhythmogenic cardiomyopathy is heart transplantation, but physicians can offer symptom management options. Physicians will focus on restoring heart rhythm and management of Heart Disease and Heart Failure symptoms. After the initial diagnosis, patients may not need treatment management if the symptoms do not worsen with time. Patients can go on beta-blocker medications or receive an implantable cardioverter-defibrillator to regulate heart rhythm, and, most importantly reduce or eliminate their endurance exercise activity.

Cardiovascular Research & Training Institute

At the Cardiovascular Research and Training Institute (CVRTI) researchers are interested in understanding the fundamental mechanisms underlying the risk of sudden death in arrhythmogenic cardiomyopathy . Using gene therapy techniques, researchers at CVRTI are developing strategies to rescue the disease in model systems. Investigators use state of the art electrocardiography  and echocardiography to characterize the disease progression and response to treatment. In order to translate the findings to patients, Investigators have access to donated heart tissues  to study and compare their results in model systems to patient’s heart with the disease. Researchers at CVRTI are rapidly developing new solutions and treatment options for patients with arrhythmogenic cardiomyopathy. Ongoing research at the CVRTI aims to improve outcomes for patients with this disease.