Inova Reinsch Pierce Cardiomyopathy Program

Cardiomyopathies are progressive heart muscle conditions that make it harder for the heart to pump, caused by viral infections in the heart, genetic defects, coronary artery disease, arrhythmias, and chemotherapy. They can lead to abnormal heart rhythms, heart failure, and backup of blood into the lungs or other parts of the body.

Though the exact prevalence of cardiomyopathies is unknown because they frequently go undiagnosed, as many as one in 500 adults may suffer from some form of cardiomyopathy, with rising numbers as the population ages. Types of cardiomyopathies include:

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

ARVC, also known as arrhythmogenic right ventricular dysplasia (ARVD), is an inherited or genetic disorder of the bottom right chamber of the heart (called the right ventricle) that causes the heart’s muscular wall, or myocardium, to become enlarged and develop problems contracting. ARVC can increase a patient’s risk for arrhythmia (abnormal heart rhythm), subsequently increasing the risk of sudden cardiac arrest or death.

Dilated Cardiomyopathy

The most frequent form of cardiomyopathy, dilated cardiomyopathy, occurs when the left ventricle, the heart's main pumping chamber, is enlarged (dilated). As the chamber gets bigger, its thick muscular wall stretches, becoming thinner and weaker, affecting the heart's ability to pump enough oxygen-rich blood to the rest of the body.

Hypertrophic Cardiomyopathy (HCM)

Hypertrophic cardiomyopathy is the most common inherited or genetic heart disease, characterized by a thickening of the left ventricle muscle that blocks blood flow to the rest of the body and can sometimes affect the mitral valve, causing blood to leak backward through the valve. It can occur at many ages but often presents in childhood or early adulthood and can cause sudden death in adolescents and young adult athletes. Because there are frequently no symptoms, we screen patients with a family history to help with early diagnosis and prevent advanced disease or sudden death.

Restrictive Cardiomyopathy (RCM)

Restrictive cardiomyopathy is a rare condition in which the heart's chambers stiffen, making it difficult for the heart to fill with blood properly. Though the heart has normal pumping function, it has difficulty relaxing between beats causing the upper chambers of the heart (atria) to enlarge while the lower chambers (ventricles) maintain their normal size. Eventually, the heart chambers can't properly fill with blood, which, in turn, backs up in the circulatory system. Other health conditions commonly cause RCM, but the cause can also be unknown (idiopathic). 

RCMs are classified as primary (e.g., endomyocardial fibrosis, Löffler's endocarditis, idiopathic restrictive cardiomyopathy) or secondary, caused by infiltrative diseases such as amyloidosis (most common), sarcoidosis, radiation carditis, and storage diseases, such as hemochromatosis, glycogen storage disorders, and Fabry's disease.

Many people with cardiomyopathy may not experience symptoms at first. However, as the condition progresses, symptoms can develop and worsen. Common symptoms of cardiomyopathy include:

• Shortness of breath or difficulty breathing, which can occur during physical activity or even at rest
• Chest pain following physical exertion or after eating a large meal
• Heart palpitations that may feel rapid, pounding or fluttering
• Swelling in the legs, ankles, feet, abdomen and around the neck veins
• Abdominal bloating (due to fluid accumulation)
• Coughing when lying down
• Difficulty lying flat without discomfort
• Persistent fatigue, even with adequate rest
• Dizziness and episodes of fainting

The severity and progression of symptoms can vary. Some individuals may see a rapid decline in their condition, while others might not experience significant worsening for an extended period. Without treatment, symptoms typically continue to get worse.

To diagnose cardiomyopathy, your healthcare provider will examine you and ask about your personal and family medical history, particularly about what triggers your symptoms.

Several tests can be used to diagnose cardiomyopathy:

• Blood tests: These check iron levels and the function of your kidneys, thyroid and liver. A specific blood test measures B-type natriuretic peptide (BNP), which can indicate heart failure, a complication of cardiomyopathy.
• Chest X-ray: An imaging test that reveals the size of your heart and the condition of your lungs. It can show whether the heart is enlarged.
• Echocardiogram: An imaging test that uses sound waves to produce images of your heart in action, helping your doctor to observe blood flow and heart valve function.
• Electrocardiogram: Sometimes called an ECG or EKG, this quick, painless test records the heart's electrical activity through electrodes placed on your body, showing your heart’s rhythm and pace.
• Exercise stress tests: This test evaluates your heart function during physical exertion, using a treadmill or stationary bike. For those who are unable to exercise, medication may be used to simulate the effects of physical activity.
• Cardiac catheterization: This minimally invasive test involves inserting a catheter into the groin to reach the heart, measuring pressure in the heart chambers and checking for blockages with a dye visible on X-rays.
• Cardiac MRI: An imaging test that uses magnetic fields and radio waves to create detailed heart images. It is especially useful if echocardiogram results are inconclusive.
• Cardiac CT scan: This test provides detailed images of the heart and chest using X-rays. It shows the heart's size, valves, and any calcium deposits or blockages.
• Genetic testing: Since cardiomyopathy can be hereditary, genetic testing may be advised, possibly including immediate family members.

These tests help determine the presence and severity of cardiomyopathy, guiding treatment options.

The primary goals of cardiomyopathy treatment are to manage symptoms, prevent the condition from getting worse and reduce the risk of complications. The treatment approach varies depending on the type and severity of cardiomyopathy. 

Medications

Medications play a crucial role in treating cardiomyopathy and may help to:

• Enhance the heart's pumping ability
• Improve blood circulation
• Reduce blood pressure
• Decrease heart rate
• Eliminate excess fluid and sodium
• Prevent blood clots from forming

Nonsurgical therapies

• Septal ablation: This procedure is used to treat hypertrophic cardiomyopathy. It involves shrinking part of the thickened heart muscle by delivering alcohol through a catheter to the affected artery, improving blood flow.
• Ablation therapy: This minimally invasive procedure uses catheters with sensors that deliver heat or cold energy to create scars in the heart. These scars help to block irregular heart signals and stabilize the heartbeat.

Surgery and devices

• Ventricular assist device (VAD): This mechanical device aids in pumping blood from the heart’s lower chambers to the body and is used primarily when other treatments have failed.
• Pacemaker: This device is implanted in the chest to regulate the heartbeat.
• Cardiac resynchronization therapy (CRT): This is particularly beneficial for those with dilated cardiomyopathy and issues like left bundle branch block. It helps synchronize heart chamber contractions.
• Implantable cardioverter-defibrillator (ICD): This device is implanted in the chest. There, it monitors heart rhythm and delivers shocks to correct irregular rhythms, preventing sudden cardiac arrest.

Surgical options

• Septal myectomy: This is an open-heart surgery for hypertrophic cardiomyopathy that removes part of the thickened heart muscle wall, improving blood flow and heart function.
• Heart transplant: Considered for end-stage heart failure when other treatments are ineffective, this surgery replaces the diseased heart with a healthy one from a donor.

Each treatment is tailored to individual needs, based on the specific cardiomyopathy diagnosis, the patient’s overall health and other factors.

Inova produces and follows the latest scientific findings to develop and implement innovative approaches and care pathways to best help patients. We review and adapt risk stratification, prevention, detection, monitoring, and treatment protocols based on risk assessment algorithms, imaging and treatment guidance documents, and scientific statements from the American Heart Association, the American College of Cardiology, the Heart Rhythm Society, and the American Society for Echocardiography.

We establish and track measures of success, including the need for hospitalization, reduction in length of hospital stay, reduction in mortality, improved quality of life, and other relevant metrics, and document their outcomes.